Variant report for huEAA391
- Data source: huEAA391: var-GS000034723-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?b9e23de67539a0360585040c02dae85ec921b387
- Person ID: huEAA391
- public profile: my.pgp-hms.org/profile/huEAA391
- Download: source data, dbSNP and nsSNP report (128 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | DCAF8-R317C | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | Reported to cause axonal hereditary motor and sensory neuropathy in a dominant manner, with mild cardiomyopathy. Evidence for this may be weak: this report comes from a 2014 paper, Klein et al: http://www.ncbi.nlm.nih.gov/pubmed/24500646 and is recorded in ClinVar by OMIM: http://www.ncbi.nlm.nih.gov/clinvar/variation/133348/ | 1 | |
| 2 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 3 | MATN3-T303M | Moderate | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.0106698 | An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis. | 1 |
| 4 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 5 | LMNB2-R215Q | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.0109223 | Carriers of this variant have increased susceptibility to acquired partial lipodystrophy ("Barraquer-Simons syndrome", loss of fat in the upper body) -- this syndrome is quite rare, however, so even for carriers the chances of developing the syndrome is very low (less than 1%). | 1 |
| 6 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 7 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 8 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 9 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 10 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 11 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 12 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 13 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 14 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 15 | IL7R-T244I | Low | Likely | Likely protective Unknown, Homozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 16 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 17 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 18 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
| 19 | PKD1-A4059V | Low | Likely | Likely benign Unknown, Heterozygous | 0.0570413 | Probably benign. | 1 |
| 20 | FLT4-N149D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
| 21 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Homozygous | 0.27282 | Common polymorphism | 1 |
| 22 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 23 | DMD-R2155W | Low | Likely | Likely benign Unknown, Homozygous | 0.0269529 | Probably benign. | 1 |
| 24 | FBN2-S2580L | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0779885 | Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism. | 1 |
| 25 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 26 | MAPT-Q230R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0420019 | Common polymorphism. | 1 |
| 27 | ERCC6-R1230P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0695297 | Probably benign. | 1 |
| 28 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 29 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 30 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 31 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 32 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 33 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 34 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 35 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 36 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 37 | WFS1-R456H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0454545 | Reported benign in ClinVar | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32620096 / 33282720 = 98.01%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.9059954382535 | 577 | 6138 | 955553-955698, 955742-955753, 957604-957607, 957610-957625, 957631, 957634-957638, 976045, 976208-976260, 976564, 976595, 976607, 976617-976618, 976624-976625, 976674-976682, 976688-976692, 976719, 976722-976723, 976730, 976761-976777, 977504, 978646-978649, 978749, 978752-978756, 978767-978770, 978773, 979377-979379, 979383, 979385-979387, 981241, 981840, 981849-981854, 981873-981876, 981886-981934, 981943-981993, 982026, 983410-983422, 983444, 983451, 983472-983474, 983478-983479, 983486, 983568, 983602, 983607, 983613-983618, 983628-983652, 983661-983745, 984426, 984685, 984709, 985382-985385, 985633, 985690-985693, 986680-986682, 986700, 986833-986834, 986849, 987129, 989905 |
| 2 | GABRD | 1 | 0.94996320824135 | 68 | 1359 | 1950863-1950930 |
| 3 | PEX10 | 1 | 0.99490316004077 | 5 | 981 | 2337963, 2340019-2340022 |
| 4 | NPHP4 | 1 | 0.99766409717356 | 10 | 4281 | 5935147-5935156 |
| 5 | ESPN | 1 | 0.85536062378168 | 371 | 2565 | 6485020, 6485023, 6485043-6485044, 6485105-6485107, 6485191, 6485207-6485210, 6488319-6488336, 6488378-6488384, 6488426-6488432, 6500368, 6500419, 6500427, 6500452, 6500476, 6500694-6500703, 6500709-6500718, 6500736, 6500741-6500748, 6500757, 6500759-6500764, 6500783-6500785, 6500789-6500791, 6500830-6500868, 6504657-6504679, 6505726-6505738, 6505776-6505820, 6505848-6505868, 6505874-6505876, 6505888-6505920, 6508882-6508908, 6508922-6508946, 6509045-6509087, 6512127-6512133, 6520074 |
| 6 | PLEKHG5 | 1 | 0.93508936970837 | 207 | 3189 | 6528092, 6529183-6529185, 6530863, 6530869, 6530913, 6530937, 6532654, 6532659, 6533413, 6534096, 6534106-6534154, 6534220-6534224, 6534511-6534647, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.99510634293243 | 26 | 5313 | 10357000, 10425181-10425188, 10425584-10425600 |
| 8 | PEX14 | 1 | 0.99294532627866 | 8 | 1134 | 10659365-10659371, 10690004 |
| 9 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 10 | MASP2 | 1 | 0.9946627850558 | 11 | 2061 | 11103539-11103549 |
| 11 | PLOD1 | 1 | 0.99771062271062 | 5 | 2184 | 11994840, 12009860-12009863 |
| 12 | MFN2 | 1 | 0.99692172383465 | 7 | 2274 | 12052634-12052640 |
| 13 | CLCNKA | 1 | 0.98837209302326 | 24 | 2064 | 16353248-16353256, 16354391-16354397, 16355707, 16356985-16356991 |
| 14 | CLCNKB | 1 | 0.99079457364341 | 19 | 2064 | 16371029, 16373044-16373050, 16378725, 16378832, 16382979, 16383399-16383406 |
| 15 | ATP13A2 | 1 | 0.98814563928874 | 42 | 3543 | 17313004, 17313316-17313324, 17313343, 17313604-17313605, 17313608-17313610, 17313618-17313641, 17313654, 17322619 |
| 16 | SDHB | 1 | 0.99051008303677 | 8 | 843 | 17350491-17350498 |
| 17 | ALDH4A1 | 1 | 0.99054373522459 | 16 | 1692 | 19202926, 19208254-19208268 |
| 18 | PINK1 | 1 | 0.98167239404353 | 32 | 1746 | 20960122, 20960146-20960148, 20960270-20960276, 20960286, 20960291, 20960329, 20960380-20960390, 20960398-20960404 |
| 19 | ALPL | 1 | 0.99936507936508 | 1 | 1575 | 21904072 |
| 20 | HSPG2 | 1 | 0.99172738312083 | 109 | 13176 | 22149879, 22160020, 22176624-22176630, 22181193-22181203, 22181445, 22182049, 22192221-22192232, 22199122-22199129, 22199141-22199143, 22207254, 22263648-22263710 |
| 21 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 22 | RPL11 | 1 | 0.99813780260708 | 1 | 537 | 24020336 |
| 23 | GALE | 1 | 0.99904489016237 | 1 | 1047 | 24123551 |
| 24 | FUCA1 | 1 | 0.99143468950749 | 12 | 1401 | 24186321-24186331, 24194728 |
| 25 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 26 | HPCA | 1 | 0.99828178694158 | 1 | 582 | 33359456 |
| 27 | ZMPSTE24 | 1 | 0.99649859943978 | 5 | 1428 | 40747015-40747019 |
| 28 | COL9A2 | 1 | 0.99710144927536 | 6 | 2070 | 40769479-40769480, 40770037, 40781309, 40782866-40782867 |
| 29 | KCNQ4 | 1 | 0.91858237547893 | 170 | 2088 | 41249766-41249793, 41249814-41249816, 41249827, 41249878, 41249925, 41249930, 41249954-41249964, 41249980-41250006, 41284212-41284256, 41284264-41284267, 41284281, 41284291, 41284303-41284304, 41284315, 41284318-41284319, 41296769-41296806, 41304013-41304015 |
| 30 | CLDN19 | 1 | 0.97481481481481 | 17 | 675 | 43201559-43201561, 43201574-43201578, 43201617, 43203962-43203969 |
| 31 | LEPRE1 | 1 | 0.98009950248756 | 44 | 2211 | 43213022-43213029, 43232408, 43232438-43232460, 43232547-43232558 |
| 32 | MPL | 1 | 0.99213836477987 | 15 | 1908 | 43818343-43818344, 43818352-43818356, 43818430-43818437 |
| 33 | EIF2B3 | 1 | 0.99632082413539 | 5 | 1359 | 45446836-45446840 |
| 34 | MUTYH | 1 | 0.99235181644359 | 12 | 1569 | 45798284-45798295 |
| 35 | POMGNT1 | 1 | 0.99949571356531 | 1 | 1983 | 46654983 |
| 36 | STIL | 1 | 0.99663822084303 | 13 | 3867 | 47728639-47728651 |
| 37 | ORC1 | 1 | 0.99806651198763 | 5 | 2586 | 52847364, 52850330-52850333 |
| 38 | CPT2 | 1 | 0.99949418310572 | 1 | 1977 | 53662629 |
| 39 | DHCR24 | 1 | 0.99032882011605 | 15 | 1551 | 55352585-55352591, 55352602-55352608, 55352611 |
| 40 | BSND | 1 | 0.99896157840083 | 1 | 963 | 55474129 |
| 41 | PCSK9 | 1 | 0.98364598364598 | 34 | 2079 | 55505549-55505555, 55505558-55505567, 55509606-55509607, 55523091-55523103, 55524256, 55529215 |
| 42 | ALG6 | 1 | 0.98692810457516 | 20 | 1530 | 63867925, 63881549-63881555, 63894656-63894657, 63894664-63894672, 63894700 |
| 43 | LEPR | 1 | 0.99628359062321 | 13 | 3498 | 66036469, 66058532-66058543 |
| 44 | CTH | 1 | 0.99835796387521 | 2 | 1218 | 70883620-70883621 |
| 45 | ACADM | 1 | 0.99921752738654 | 1 | 1278 | 76228378 |
| 46 | RPL5 | 1 | 0.99328859060403 | 6 | 894 | 93307383-93307388 |
| 47 | ABCA4 | 1 | 0.99941366168279 | 4 | 6822 | 94473845-94473846, 94497417, 94497572 |
| 48 | DPYD | 1 | 0.99675113710201 | 10 | 3078 | 97848012-97848017, 98144654-98144655, 98144703, 98348885 |
| 49 | AGL | 1 | 0.99499891280713 | 23 | 4599 | 100327854, 100327858, 100343297-100343310, 100379191-100379197 |
| 50 | DBT | 1 | 0.99033816425121 | 14 | 1449 | 100684230-100684243 |
| 51 | COL11A1 | 1 | 0.95931830676196 | 222 | 5457 | 103345256-103345262, 103364222-103364249, 103364272-103364300, 103364325-103364329, 103364535-103364550, 103380312-103380352, 103412441-103412449, 103412460-103412461, 103435793, 103435796, 103444632, 103455097-103455127, 103471677, 103471844, 103488302, 103488488-103488535 |
| 52 | GSTM1 | 1 | 0.9482496194825 | 34 | 657 | 110230525, 110235885-110235917 |
| 53 | AMPD1 | 1 | 0.99688057040998 | 7 | 2244 | 115223022-115223028 |
| 54 | NGF | 1 | 0.98898071625344 | 8 | 726 | 115828718-115828725 |
| 55 | VANGL1 | 1 | 0.99936507936508 | 1 | 1575 | 116226612 |
| 56 | HSD3B2 | 1 | 0.9982126899017 | 2 | 1119 | 119964706-119964707 |
| 57 | NOTCH2 | 1 | 0.9804476806904 | 145 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120612000-120612009 |
| 58 | FLG | 1 | 0.9255703266043 | 907 | 12186 | 152276219-152276225, 152276365-152276389, 152276456-152276475, 152276580-152276631, 152276668-152276702, 152276757-152276785, 152277011-152277058, 152277081-152277088, 152277118-152277171, 152277396, 152277713-152277720, 152277868-152277887, 152278018-152278052, 152278202-152278209, 152278409-152278445, 152278685-152278693, 152278840-152278859, 152278873-152278879, 152278991-152279022, 152279403-152279410, 152279524-152279530, 152279642, 152280107-152280113, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281225-152281231, 152281578-152281592, 152281621-152281649, 152281948, 152281981-152282019, 152282054-152282060, 152282089-152282120, 152283565-152283571, 152284149-152284181, 152284205-152284247, 152284374-152284380, 152284421-152284453, 152284546-152284552, 152284811-152284817, 152285134-152285140, 152285450-152285483, 152286911-152286924, 152286974-152286980 |
| 59 | CHRNB2 | 1 | 0.99933730947647 | 1 | 1509 | 154544378 |
| 60 | GBA | 1 | 0.99415204678363 | 7 | 1197 | 155186254-155186260 |
| 61 | LMNA | 1 | 0.99118165784832 | 5 | 567 | 156105079-156105083 |
| 62 | LMNA | 1 | 0.99699248120301 | 6 | 1995 | 156084727, 156105079-156105083 |
| 63 | SEMA4A | 1 | 0.99693788276465 | 7 | 2286 | 156130820, 156131218, 156131224-156131228 |
| 64 | NTRK1 | 1 | 0.97030531158511 | 71 | 2391 | 156830727-156830760, 156830766, 156830777-156830781, 156830783-156830799, 156830804-156830807, 156830814, 156830817-156830823, 156830834, 156830837 |
| 65 | PPOX | 1 | 0.99163179916318 | 12 | 1434 | 161136665-161136669, 161137241-161137247 |
| 66 | NDUFS2 | 1 | 0.99497126436782 | 7 | 1392 | 161182206-161182212 |
| 67 | MPZ | 1 | 0.98841698841699 | 9 | 777 | 161279644-161279652 |
| 68 | TBX19 | 1 | 0.98292501855976 | 23 | 1347 | 168274313-168274335 |
| 69 | SLC19A2 | 1 | 0.99799196787149 | 3 | 1494 | 169454958-169454960 |
| 70 | F5 | 1 | 0.99475655430712 | 35 | 6675 | 169510337-169510370, 169510475 |
| 71 | FASLG | 1 | 0.96926713947991 | 26 | 846 | 172628465-172628478, 172628545-172628556 |
| 72 | DARS2 | 1 | 0.99896800825593 | 2 | 1938 | 173794406, 173795825 |
| 73 | NPHS2 | 1 | 0.99392361111111 | 7 | 1152 | 179544890-179544895, 179544898 |
| 74 | RNASEL | 1 | 0.99550763701707 | 10 | 2226 | 182545391-182545399, 182555110 |
| 75 | LAMC2 | 1 | 0.99776661083194 | 8 | 3582 | 183194777-183194780, 183212402-183212405 |
| 76 | HMCN1 | 1 | 0.99852140998344 | 25 | 16908 | 185891614-185891615, 185902815, 185932935, 185932938-185932941, 185976348-185976349, 186007137-186007140, 186017941, 186034370, 186037122-186037129, 186052074 |
| 77 | CFH | 1 | 0.98863636363636 | 42 | 3696 | 196648753-196648758, 196658688-196658691, 196658696-196658698, 196658719-196658744, 196695687-196695689 |
| 78 | CFHR1 | 1 | 0.99295065458207 | 7 | 993 | 196794758, 196797211, 196799715-196799718, 196799808 |
| 79 | CFHR5 | 1 | 0.98011695906433 | 34 | 1710 | 196952031-196952033, 196953121-196953138, 196953146-196953149, 196963279-196963286, 196967283 |
| 80 | ASPM | 1 | 0.99204523672609 | 83 | 10434 | 197069705-197069709, 197069712-197069714, 197071231-197071237, 197073638, 197073641, 197073650, 197074017-197074056, 197102718-197102721, 197104269-197104272, 197104275, 197104278-197104281, 197104286, 197104289, 197104305-197104306, 197108986-197108993 |
| 81 | CACNA1S | 1 | 0.99964425471363 | 2 | 5622 | 201022715, 201039408 |
| 82 | CD46 | 1 | 0.9975 | 3 | 1200 | 207943666-207943668 |
| 83 | RD3 | 1 | 0.99489795918367 | 3 | 588 | 211654729-211654731 |
| 84 | USH2A | 1 | 0.99846242552374 | 24 | 15609 | 215916610-215916616, 215916619, 215940049-215940054, 215940073-215940078, 216497691-216497694 |
| 85 | PSEN2 | 1 | 0.9992576095026 | 1 | 1347 | 227069734 |
| 86 | GJC2 | 1 | 0.75606060606061 | 322 | 1320 | 228345531, 228345566, 228345574-228345588, 228345599, 228345609, 228345612, 228345617, 228345668-228345676, 228345683-228345689, 228345747-228345755, 228345762-228345773, 228345778-228345790, 228345795, 228345801-228345803, 228345806-228345815, 228345836, 228345839, 228345899-228345902, 228345905-228345920, 228345936-228345937, 228346020-228346021, 228346025-228346026, 228346033-228346038, 228346058-228346164, 228346179, 228346332-228346333, 228346340-228346363, 228346374-228346378, 228346399, 228346402-228346418, 228346422-228346430, 228346442-228346447, 228346454-228346460, 228346473-228346479, 228346484, 228346496-228346497, 228346524-228346526, 228346537, 228346580-228346583, 228346605-228346610 |
| 87 | ACTA1 | 1 | 0.99029982363316 | 11 | 1134 | 229567810-229567813, 229567852-229567854, 229567926, 229568072-229568073, 229568126 |
| 88 | GNPAT | 1 | 0.99804209495839 | 4 | 2043 | 231401147-231401150 |
| 89 | LYST | 1 | 0.99535332281255 | 53 | 11406 | 235897877-235897884, 235937240-235937253, 235938316-235938318, 235950526-235950532, 235950584, 235969183, 235973782-235973800 |
| 90 | ACTN2 | 1 | 0.99478584729981 | 14 | 2685 | 236917274-236917277, 236917291-236917300 |
| 91 | MTR | 1 | 0.99894681411269 | 4 | 3798 | 237060343, 237060942-237060944 |
| 92 | RYR2 | 1 | 0.99584004294149 | 62 | 14904 | 237433871, 237713908-237713910, 237798189-237798194, 237821244-237821256, 237821273, 237821300-237821302, 237838082-237838085, 237881762-237881767, 237881770, 237881778-237881780, 237947081, 237947827, 237947852, 237947865-237947866, 237949323-237949335, 237972261-237972262, 237972269 |
| 93 | FH | 1 | 0.97912589693412 | 32 | 1533 | 241661138, 241661171-241661175, 241661179, 241661186, 241661195-241661196, 241669379, 241669382, 241669388-241669403, 241671978, 241672050, 241676911-241676912 |
| 94 | NLRP3 | 1 | 0.9958212793314 | 13 | 3111 | 247582361-247582364, 247587989, 247587992, 247588023, 247588028, 247588044, 247588053-247588056 |
| 95 | NET1 | 10 | 0.99944165270798 | 1 | 1791 | 5454715 |
| 96 | GATA3 | 10 | 0.99775280898876 | 3 | 1335 | 8100728, 8100738, 8100743 |
| 97 | OPTN | 10 | 0.99307958477509 | 12 | 1734 | 13174083-13174094 |
| 98 | PHYH | 10 | 0.99901671583088 | 1 | 1017 | 13330442 |
| 99 | DCLRE1C | 10 | 0.99374699374699 | 13 | 2079 | 14970027-14970039 |
| 100 | CUBN | 10 | 0.99558498896247 | 48 | 10872 | 16945965, 16957085-16957088, 16960633-16960640, 16970179-16970185, 17085914-17085918, 17085922, 17085925-17085930, 17171150, 17171153-17171167 |
| 101 | PTF1A | 10 | 0.88449848024316 | 114 | 987 | 23481578-23481580, 23481676-23481677, 23481700, 23481703-23481704, 23481714, 23481727, 23481760, 23481764, 23481777, 23481830-23481878, 23481887-23481924, 23481935-23481937, 23481944-23481945, 23482151-23482154, 23482162-23482165, 23482704 |
| 102 | MYO3A | 10 | 0.99484642341785 | 25 | 4851 | 26243855-26243858, 26385310-26385329, 26500868 |
| 103 | PDSS1 | 10 | 0.97355769230769 | 33 | 1248 | 26994215-26994247 |
| 104 | MASTL | 10 | 0.99469093667046 | 14 | 2637 | 27459083-27459089, 27459976-27459982 |
| 105 | RET | 10 | 0.9626307922272 | 125 | 3345 | 43572707-43572779, 43598039-43598050, 43600575-43600585, 43619138-43619166 |
| 106 | ERCC6 | 10 | 0.9946452476573 | 24 | 4482 | 50708703, 50740794-50740816 |
| 107 | CHAT | 10 | 0.9305740987984 | 156 | 2247 | 50822263-50822269, 50822275-50822280, 50822288-50822430 |
| 108 | PCDH15 | 10 | 0.99303786721005 | 41 | 5889 | 55587208, 55626415-55626436, 55782857-55782859, 55945000-55945002, 55955519-55955529, 56128902 |
| 109 | EGR2 | 10 | 0.9811320754717 | 27 | 1431 | 64573467-64573492, 64573654 |
| 110 | KIAA1279 | 10 | 0.9957127545552 | 8 | 1866 | 70770731-70770738 |
| 111 | CDH23 | 10 | 0.99761336515513 | 24 | 10056 | 73206121-73206127, 73326543, 73464773, 73490337-73490340, 73567092-73567099, 73574847, 73574909-73574910 |
| 112 | VCL | 10 | 0.99706314243759 | 10 | 3405 | 75854065-75854066, 75854127-75854128, 75873961, 75874612, 75874621-75874624 |
| 113 | LDB3 | 10 | 0.98397435897436 | 35 | 2184 | 88451655-88451659, 88476152-88476153, 88476165-88476187, 88476199, 88476241-88476243, 88476249 |
| 114 | BMPR1A | 10 | 0.99499687304565 | 8 | 1599 | 88659646, 88683143-88683149 |
| 115 | GLUD1 | 10 | 0.99761478831246 | 4 | 1677 | 88854370, 88854411, 88854421-88854422 |
| 116 | LIPA | 10 | 0.99 | 12 | 1200 | 90975703-90975714 |
| 117 | PDE6C | 10 | 0.99961195188203 | 1 | 2577 | 95422803 |
| 118 | PLCE1 | 10 | 0.99927630626719 | 5 | 6909 | 96076367-96076371 |
| 119 | HPS1 | 10 | 0.98860398860399 | 24 | 2106 | 100177364-100177375, 100177379-100177389, 100177393 |
| 120 | COX15 | 10 | 0.98864557988646 | 14 | 1233 | 101478156-101478168, 101491752 |
| 121 | ABCC2 | 10 | 0.998921949116 | 5 | 4638 | 101542630-101542634 |
| 122 | PAX2 | 10 | 0.99384141647421 | 8 | 1299 | 102587327-102587334 |
| 123 | C10orf2 | 10 | 0.99951338199513 | 1 | 2055 | 102748596 |
| 124 | FBXW4 | 10 | 0.99838579499596 | 2 | 1239 | 103372201, 103372204 |
| 125 | HPS6 | 10 | 0.98324742268041 | 39 | 2328 | 103825263-103825264, 103825445-103825456, 103825652-103825659, 103825770, 103825896-103825899, 103826048-103826059 |
| 126 | SUFU | 10 | 0.98350515463918 | 24 | 1455 | 104263927, 104263942, 104263949-104263951, 104263964-104263965, 104263976-104263980, 104263987-104263997, 104264082 |
| 127 | COL17A1 | 10 | 0.99621717846017 | 17 | 4494 | 105816803-105816808, 105816811-105816813, 105816817, 105816822-105816824, 105816831-105816832, 105816912, 105816916 |
| 128 | SHOC2 | 10 | 0.99942824471126 | 1 | 1749 | 112767354 |
| 129 | HABP2 | 10 | 0.99346405228758 | 11 | 1683 | 115327248-115327258 |
| 130 | EMX2 | 10 | 0.9604743083004 | 30 | 759 | 119302798-119302802, 119302806, 119302831, 119302834, 119302889-119302893, 119302912-119302920, 119302926-119302927, 119302949-119302954 |
| 131 | BAG3 | 10 | 0.99537037037037 | 8 | 1728 | 121431970-121431975, 121436165, 121436170 |
| 132 | FGFR2 | 10 | 0.9995939910678 | 1 | 2463 | 123274679 |
| 133 | HTRA1 | 10 | 0.84476784476784 | 224 | 1443 | 124221169-124221307, 124221349-124221352, 124221358-124221361, 124221367-124221370, 124221375-124221393, 124221416-124221417, 124221431-124221437, 124221440-124221441, 124221444-124221478, 124221504, 124221628-124221633, 124271564 |
| 134 | ACADSB | 10 | 0.99923017705928 | 1 | 1299 | 124768578 |
| 135 | OAT | 10 | 0.99166666666667 | 11 | 1320 | 126090402-126090405, 126097344-126097350 |
| 136 | UROS | 10 | 0.99874686716792 | 1 | 798 | 127484677 |
| 137 | TALDO1 | 11 | 0.99802761341223 | 2 | 1014 | 747564, 747570 |
| 138 | SLC25A22 | 11 | 0.91152263374486 | 86 | 972 | 791944, 792617-792623, 792632-792694, 792875-792880, 792890-792896, 792901, 792903 |
| 139 | PNPLA2 | 11 | 0.92805280528053 | 109 | 1515 | 819719-819739, 819760-819769, 819785, 819788-819792, 819797, 819802-819806, 819808-819863, 819871-819874, 824006-824007, 824013-824015, 824533 |
| 140 | CTSD | 11 | 0.96529459241324 | 43 | 1239 | 1775246-1775247, 1775279, 1780249-1780255, 1785023-1785034, 1785053-1785054, 1785058-1785069, 1785078-1785084 |
| 141 | TNNI2 | 11 | 0.98542805100182 | 8 | 549 | 1861635-1861641, 1861646 |
| 142 | TNNT3 | 11 | 0.97812097812098 | 17 | 777 | 1958193-1958209 |
| 143 | H19 | 11 | 0.96638655462185 | 36 | 1071 | 2017844-2017867, 2018256-2018267 |
| 144 | IGF2 | 11 | 0.9915611814346 | 6 | 711 | 2154398, 2161485-2161488, 2161502 |
| 145 | TH | 11 | 0.98984126984127 | 16 | 1575 | 2187998, 2191021, 2191024, 2191032, 2191036, 2191057, 2191953-2191956, 2191963-2191964, 2191967, 2191978, 2191981, 2191984 |
| 146 | KCNQ1 | 11 | 0.92909896602659 | 144 | 2031 | 2466329-2466340, 2466345, 2466404-2466436, 2466453-2466460, 2466468-2466556, 2466633 |
| 147 | CDKN1C | 11 | 0.62039957939012 | 361 | 951 | 2905944-2905955, 2905963, 2905971-2905985, 2906001-2906258, 2906284, 2906322, 2906326, 2906355, 2906378-2906382, 2906392-2906452, 2906458-2906461, 2906493 |
| 148 | SMPD1 | 11 | 0.99050632911392 | 18 | 1896 | 6411931-6411942, 6411951, 6411960, 6412743, 6412868, 6412875, 6413016 |
| 149 | SBF2 | 11 | 0.99837837837838 | 9 | 5550 | 9829595, 9867175-9867176, 9867181-9867184, 9871726, 10315602 |
| 150 | ABCC8 | 11 | 0.99388959123472 | 29 | 4746 | 17438485-17438491, 17449902, 17491724-17491733, 17496564-17496574 |
| 151 | USH1C | 11 | 0.95444444444444 | 123 | 2700 | 17531137-17531160, 17531173-17531225, 17531251, 17531293-17531309, 17531311-17531330, 17531332-17531337, 17531357, 17548818 |
| 152 | HPS5 | 11 | 0.99705014749263 | 10 | 3390 | 18320427-18320436 |
| 153 | LDHA | 11 | 0.99099099099099 | 9 | 999 | 18422433-18422441 |
| 154 | SLC6A5 | 11 | 0.99122807017544 | 21 | 2394 | 20622721-20622741 |
| 155 | ANO5 | 11 | 0.98322392414296 | 46 | 2742 | 22249059-22249060, 22276972, 22276997-22276999, 22277001-22277038, 22277064, 22277068 |
| 156 | FANCF | 11 | 0.99733333333333 | 3 | 1125 | 22646843-22646844, 22646854 |
| 157 | PAX6 | 11 | 0.99605988967691 | 5 | 1269 | 31824291, 31824326-31824327, 31824332, 31824346 |
| 158 | WT1 | 11 | 0.94208494208494 | 90 | 1554 | 32413583-32413594, 32456513, 32456522, 32456554-32456556, 32456620, 32456640-32456651, 32456669-32456694, 32456707-32456709, 32456713-32456717, 32456726, 32456743-32456747, 32456750, 32456757-32456763, 32456842-32456848, 32456855, 32456859, 32456875-32456877 |
| 159 | PDHX | 11 | 0.96082337317397 | 59 | 1506 | 34938294-34938295, 34969138-34969153, 35016580-35016620 |
| 160 | RAG1 | 11 | 0.9977650063857 | 7 | 3132 | 36594869-36594875 |
| 161 | ALX4 | 11 | 0.97653721682848 | 29 | 1236 | 44331147-44331148, 44331153-44331163, 44331173-44331176, 44331263, 44331266, 44331269, 44331273-44331278, 44331294-44331296 |
| 162 | SLC35C1 | 11 | 0.9905303030303 | 10 | 1056 | 45827822, 45832518-45832526 |
| 163 | PEX16 | 11 | 0.99903938520653 | 1 | 1041 | 45939296 |
| 164 | F2 | 11 | 0.99518459069021 | 9 | 1869 | 46745011-46745019 |
| 165 | DDB2 | 11 | 0.99143302180685 | 11 | 1284 | 47238421-47238431 |
| 166 | MADD | 11 | 0.99979773462783 | 1 | 4944 | 47307013 |
| 167 | SLC39A13 | 11 | 0.99014336917563 | 11 | 1116 | 47433921, 47434015, 47434018, 47434971-47434978 |
| 168 | RAPSN | 11 | 0.99919289749798 | 1 | 1239 | 47460382 |
| 169 | SERPING1 | 11 | 0.98336660013307 | 25 | 1503 | 57365744-57365768 |
| 170 | TMEM216 | 11 | 0.99621212121212 | 1 | 264 | 61165280 |
| 171 | ROM1 | 11 | 0.98958333333333 | 11 | 1056 | 62381200-62381210 |
| 172 | SLC22A12 | 11 | 0.99578820697954 | 7 | 1662 | 64367174, 64367254, 64367260, 64367270, 64367274, 64367281, 64367290 |
| 173 | PYGM | 11 | 0.9996045867932 | 1 | 2529 | 64527364 |
| 174 | MEN1 | 11 | 0.99404761904762 | 11 | 1848 | 64577388-64577398 |
| 175 | CST6 | 11 | 0.94 | 27 | 450 | 65780380-65780406 |
| 176 | BBS1 | 11 | 0.99719416386083 | 5 | 1782 | 66281953, 66299433-66299436 |
| 177 | SPTBN2 | 11 | 0.9993029415865 | 5 | 7173 | 66457626, 66457658, 66466134, 66472847, 66476485 |
| 178 | PC | 11 | 0.99547639242296 | 16 | 3537 | 66618708-66618714, 66620085-66620087, 66620099-66620100, 66633737-66633740 |
| 179 | CABP4 | 11 | 0.9975845410628 | 2 | 828 | 67225858, 67225915 |
| 180 | AIP | 11 | 0.9718026183283 | 28 | 993 | 67256813, 67257559-67257578, 67257869-67257875 |
| 181 | NDUFV1 | 11 | 0.99498207885305 | 7 | 1395 | 67377030-67377036 |
| 182 | NDUFS8 | 11 | 0.96998420221169 | 19 | 633 | 67799781-67799784, 67799794-67799799, 67800740-67800748 |
| 183 | TCIRG1 | 11 | 0.9923786602487 | 19 | 2493 | 67810272-67810273, 67810282, 67811339-67811349, 67811355-67811356, 67811772, 67816576-67816577 |
| 184 | LRP5 | 11 | 0.97318481848185 | 130 | 4848 | 68080183-68080273, 68131215-68131225, 68153793, 68181425-68181439, 68193555-68193562, 68207363, 68207366-68207367, 68207373 |
| 185 | CPT1A | 11 | 0.99956933677864 | 1 | 2322 | 68527752 |
| 186 | IGHMBP2 | 11 | 0.99195171026157 | 24 | 2982 | 68671467, 68701340-68701362 |
| 187 | DHCR7 | 11 | 0.99789915966387 | 3 | 1428 | 71146575-71146577 |
| 188 | MYO7A | 11 | 0.99924789410349 | 5 | 6648 | 76890832-76890836 |
| 189 | FZD4 | 11 | 0.99256505576208 | 12 | 1614 | 86662787-86662798 |
| 190 | MTMR2 | 11 | 0.99948240165631 | 1 | 1932 | 95657111 |
| 191 | TRPC6 | 11 | 0.99606580829757 | 11 | 2796 | 101362287-101362297 |
| 192 | DYNC2H1 | 11 | 0.98733101583623 | 164 | 12945 | 102991510-102991531, 103006606-103006616, 103019278-103019284, 103026201, 103029417-103029423, 103040890-103040897, 103043811, 103043823-103043864, 103043895-103043898, 103043927, 103043953, 103043983-103044031, 103052520, 103062269, 103062346-103062348, 103090728, 103090731-103090734 |
| 193 | ACAT1 | 11 | 0.99844236760125 | 2 | 1284 | 107992346, 107992379 |
| 194 | ATM | 11 | 0.99760113400938 | 22 | 9171 | 108098365, 108098376, 108098379, 108151821, 108178652-108178665, 108188122-108188123, 108188140, 108204619 |
| 195 | DLAT | 11 | 0.99125514403292 | 17 | 1944 | 111896973-111896988, 111909981 |
| 196 | APOA1 | 11 | 0.98134328358209 | 15 | 804 | 116706778, 116706798-116706799, 116706802-116706806, 116706851-116706857 |
| 197 | FXYD2 | 11 | 0.99543378995434 | 2 | 438 | 117693376, 117693383 |
| 198 | SLC37A4 | 11 | 0.99906367041199 | 1 | 1068 | 118897378 |
| 199 | DPAGT1 | 11 | 0.98940505297474 | 13 | 1227 | 118967863, 118971370-118971381 |
| 200 | ROBO3 | 11 | 0.99206921413122 | 33 | 4161 | 124738730-124738731, 124738940, 124742418-124742426, 124743615, 124745194-124745195, 124745934, 124746271, 124746275, 124750437-124750445, 124750448-124750453 |
| 201 | WNK1 | 12 | 0.98908938313051 | 78 | 7149 | 863191-863196, 970408-970417, 994425-994461, 995056-995058, 1005436-1005444, 1006720-1006732 |
| 202 | CACNA2D4 | 12 | 0.99384885764499 | 21 | 3414 | 1902904-1902913, 2019073-2019083 |
| 203 | CACNA1C | 12 | 0.9961896052431 | 25 | 6561 | 2794934-2794940, 2797717-2797721, 2797726-2797729, 2797840-2797844, 2797846-2797848, 2797866 |
| 204 | KCNA1 | 12 | 0.99126344086022 | 13 | 1488 | 5021531-5021543 |
| 205 | VWF | 12 | 0.98661454631604 | 113 | 8442 | 6094228-6094231, 6103054, 6122736, 6125926-6125937, 6131112-6131118, 6131926-6131934, 6131943-6131982, 6132003-6132033, 6166052, 6166161-6166167 |
| 206 | TNFRSF1A | 12 | 0.99269005847953 | 10 | 1368 | 6438598, 6438601, 6438608-6438614, 6438655 |
| 207 | SCNN1A | 12 | 0.99954275262917 | 1 | 2187 | 6472614 |
| 208 | TPI1 | 12 | 0.98266666666667 | 13 | 750 | 6976731-6976741, 6976823, 6976827 |
| 209 | ATN1 | 12 | 0.97649034424853 | 84 | 3573 | 7045892-7045928, 7046368-7046369, 7046378-7046384, 7046393-7046399, 7046580, 7047137, 7047142, 7047145-7047148, 7047162-7047177, 7047180-7047181, 7050631-7050636 |
| 210 | PEX5 | 12 | 0.99947257383966 | 1 | 1896 | 7354416 |
| 211 | AICDA | 12 | 0.98659966499162 | 8 | 597 | 8757506-8757509, 8757515-8757518 |
| 212 | GYS2 | 12 | 0.97301136363636 | 57 | 2112 | 21712028-21712076, 21757409-21757416 |
| 213 | ABCC9 | 12 | 0.99139784946237 | 40 | 4650 | 21998556-21998573, 22025569-22025573, 22063896-22063903, 22068664, 22068760-22068767 |
| 214 | DNM1L | 12 | 0.98959746720941 | 23 | 2211 | 32884049, 32890855-32890876 |
| 215 | PKP2 | 12 | 0.99522673031026 | 12 | 2514 | 32955377, 33049578, 33049605, 33049657-33049665 |
| 216 | KIF21A | 12 | 0.99659045326915 | 17 | 4986 | 39745579, 39745587-39745588, 39752174-39752175, 39756991, 39760214, 39760289-39760298 |
| 217 | LRRK2 | 12 | 0.99498945147679 | 38 | 7584 | 40657649-40657655, 40681237-40681249, 40687370, 40687375, 40717004-40717010, 40740619-40740625, 40749917-40749918 |
| 218 | IRAK4 | 12 | 0.99132321041215 | 12 | 1383 | 44180202-44180205, 44180227-44180234 |
| 219 | VDR | 12 | 0.98753894080997 | 16 | 1284 | 48251303-48251308, 48251370-48251379 |
| 220 | COL2A1 | 12 | 0.99663978494624 | 15 | 4464 | 48374750, 48379743-48379748, 48393724-48393731 |
| 221 | MLL2 | 12 | 0.98429035752979 | 261 | 16614 | 49420600, 49420777-49420778, 49424114, 49424454, 49425796, 49425829, 49426153, 49426647-49426686, 49426711-49426755, 49426768-49426794, 49426830, 49426906-49426908, 49426915-49426923, 49426957, 49427052, 49427056, 49427070, 49427096, 49427255-49427260, 49427266-49427270, 49427273, 49427283-49427294, 49427320, 49427612, 49427615-49427618, 49427627, 49431293-49431312, 49431334-49431337, 49431386-49431392, 49431452-49431460, 49431552, 49431601, 49431639-49431654, 49431834, 49431839-49431840, 49433293-49433302, 49434074, 49434080-49434085, 49434352-49434353, 49435226-49435229, 49435235-49435237, 49435242-49435244, 49435248, 49435258 |
| 222 | DHH | 12 | 0.9983207388749 | 2 | 1191 | 49483718, 49483736 |
| 223 | TUBA1A | 12 | 0.99561403508772 | 2 | 456 | 49522578, 49522605 |
| 224 | AQP2 | 12 | 0.99877450980392 | 1 | 816 | 50344887 |
| 225 | ACVRL1 | 12 | 0.99867724867725 | 2 | 1512 | 52308235, 52308280 |
| 226 | KRT81 | 12 | 0.98682476943347 | 20 | 1518 | 52682999-52683005, 52685086-52685090, 52685096, 52685186-52685192 |
| 227 | KRT86 | 12 | 0.99520876112252 | 7 | 1461 | 52697949-52697955 |
| 228 | KRT83 | 12 | 0.99527665317139 | 7 | 1482 | 52714762-52714768 |
| 229 | KRT6B | 12 | 0.95044247787611 | 84 | 1695 | 52841338-52841344, 52843632-52843637, 52844243, 52844246, 52844265, 52844362, 52845365-52845371, 52845432-52845438, 52845527-52845534, 52845596-52845606, 52845662-52845687, 52845797-52845804 |
| 230 | KRT6C | 12 | 0.91386430678466 | 146 | 1695 | 52863210-52863216, 52863564, 52865295-52865300, 52865900-52865928, 52866022, 52867024-52867069, 52867091-52867109, 52867187-52867193, 52867255-52867265, 52867324, 52867339-52867342, 52867372-52867378, 52867457-52867463 |
| 231 | KRT6A | 12 | 0.94572271386431 | 92 | 1695 | 52881527-52881550, 52881868-52881874, 52882264-52882270, 52884735, 52886478, 52886542-52886559, 52886637-52886644, 52886708-52886714, 52886907-52886925 |
| 232 | KRT5 | 12 | 0.99210377890581 | 14 | 1773 | 52908850-52908852, 52912902-52912909, 52913601-52913603 |
| 233 | KRT2 | 12 | 0.99947916666667 | 1 | 1920 | 53045626 |
| 234 | KRT1 | 12 | 0.99948320413437 | 1 | 1935 | 53069130 |
| 235 | KRT4 | 12 | 0.99775910364146 | 4 | 1785 | 53201453-53201456 |
| 236 | AAAS | 12 | 0.9890310786106 | 18 | 1641 | 53701649-53701666 |
| 237 | ITGA7 | 12 | 0.99095154699358 | 31 | 3426 | 56086688, 56086721, 56091519-56091547 |
| 238 | RPS26 | 12 | 0.99712643678161 | 1 | 348 | 56436357 |
| 239 | KIF5A | 12 | 0.99870926105195 | 4 | 3099 | 57968960-57968963 |
| 240 | CYP27B1 | 12 | 0.99672560576293 | 5 | 1527 | 58158192, 58159821, 58159836-58159838 |
| 241 | TSFM | 12 | 0.99897750511247 | 1 | 978 | 58176597 |
| 242 | GNS | 12 | 0.9957805907173 | 7 | 1659 | 65152931-65152937 |
| 243 | LEMD3 | 12 | 0.99342105263158 | 18 | 2736 | 65563548, 65563656, 65563755, 65563758, 65563761, 65609758, 65612398, 65632543-65632549, 65640043-65640046 |
| 244 | TPH2 | 12 | 0.99456890699253 | 8 | 1473 | 72335457, 72338089-72338095 |
| 245 | BBS10 | 12 | 0.99953959484346 | 1 | 2172 | 76742029 |
| 246 | CEP290 | 12 | 0.99475806451613 | 39 | 7440 | 88462325, 88472952-88472953, 88472956-88472957, 88505070-88505071, 88505081, 88512271-88512283, 88519060, 88519065, 88519105-88519112, 88523546-88523553 |
| 247 | TMPO | 12 | 0.99952038369305 | 1 | 2085 | 98909805 |
| 248 | SLC17A8 | 12 | 0.99717514124294 | 5 | 1770 | 100774552, 100797880-100797883 |
| 249 | SYCP3 | 12 | 0.985935302391 | 10 | 711 | 102125381-102125387, 102127422-102127424 |
| 250 | GNPTAB | 12 | 0.99840891010342 | 6 | 3771 | 102142964-102142969 |
| 251 | IGF1 | 12 | 0.98639455782313 | 8 | 588 | 102813437, 102874144-102874150 |
| 252 | UNG | 12 | 0.98195329087049 | 17 | 942 | 109535532-109535543, 109535571, 109535576-109535578, 109535582 |
| 253 | MVK | 12 | 0.99244332493703 | 9 | 1191 | 110019228-110019236 |
| 254 | TRPV4 | 12 | 0.99808868501529 | 5 | 2616 | 110232228-110232231, 110236497 |
| 255 | ATXN2 | 12 | 0.87950279046169 | 475 | 3942 | 112036596, 112036599-112036636, 112036667, 112036688-112036698, 112036716, 112036719-112036720, 112036728-112036729, 112036740-112037003, 112037017-112037142, 112037208-112037234, 112037261-112037262 |
| 256 | PTPN11 | 12 | 0.99887766554433 | 2 | 1782 | 112888122-112888123 |
| 257 | SDS | 12 | 0.99088145896657 | 9 | 987 | 113831764-113831772 |
| 258 | TBX5 | 12 | 0.99357739242132 | 10 | 1557 | 114793623-114793632 |
| 259 | TBX3 | 12 | 0.98969534050179 | 23 | 2232 | 115109903-115109920, 115118792-115118796 |
| 260 | HNF1A | 12 | 0.99630801687764 | 7 | 1896 | 121434361, 121435318, 121438900-121438904 |
| 261 | ATP6V0A2 | 12 | 0.98599766627771 | 36 | 2571 | 124209269-124209272, 124209276-124209307 |
| 262 | PUS1 | 12 | 0.96806853582555 | 41 | 1284 | 132425837-132425863, 132425984, 132426214-132426226 |
| 263 | GJB6 | 13 | 0.98600508905852 | 11 | 786 | 20797158-20797168 |
| 264 | SACS | 13 | 0.99803493449782 | 27 | 13740 | 23906155-23906165, 23908354-23908360, 23908678-23908680, 23912982-23912986, 23949281 |
| 265 | PDX1 | 13 | 0.99882629107981 | 1 | 852 | 28498399 |
| 266 | B3GALTL | 13 | 0.99265197060788 | 11 | 1497 | 31774259-31774269 |
| 267 | BRCA2 | 13 | 0.99161548210978 | 86 | 10257 | 32893300-32893348, 32910658-32910671, 32911254, 32913419-32913431, 32937591, 32968904-32968910, 32972413 |
| 268 | FREM2 | 13 | 0.9931650893796 | 65 | 9510 | 39261565-39261578, 39261583-39261586, 39261909-39261945, 39450210-39450218, 39450284 |
| 269 | SUCLA2 | 13 | 0.98850574712644 | 16 | 1392 | 48528337-48528342, 48547467, 48562763-48562770, 48575363 |
| 270 | RB1 | 13 | 0.98708288482239 | 36 | 2787 | 48878050-48878061, 48939043, 48939049, 48941645, 48947580, 48955385, 48955437-48955444, 48955521-48955525, 49039191-49039193, 49039346-49039347, 49051518 |
| 271 | ATP7B | 13 | 0.9974988631196 | 11 | 4398 | 52523872-52523882 |
| 272 | CLN5 | 13 | 0.99918300653595 | 1 | 1224 | 77566380 |
| 273 | EDNRB | 13 | 0.99398043641836 | 8 | 1329 | 78474717, 78474734, 78475211, 78475336-78475339, 78492547 |
| 274 | SLITRK1 | 13 | 0.99426111908178 | 12 | 2091 | 84453835, 84453838-84453840, 84454911, 84454915-84454921 |
| 275 | ZIC2 | 13 | 0.89368355222014 | 170 | 1599 | 100634389-100634409, 100634593, 100634601-100634607, 100634610-100634617, 100634690, 100634693, 100635017-100635022, 100635035, 100635040, 100637643-100637644, 100637664, 100637671, 100637678, 100637706-100637708, 100637711-100637768, 100637791-100637796, 100637799, 100637812-100637814, 100637817-100637856, 100637860-100637861, 100637875, 100637878, 100637903, 100637910, 100637918 |
| 276 | PCCA | 13 | 0.99771376314586 | 5 | 2187 | 100764100, 100962159-100962162 |
| 277 | ERCC5 | 13 | 0.99882047652748 | 5 | 4239 | 103514413-103514416, 103514867 |
| 278 | COL4A1 | 13 | 0.99560878243513 | 22 | 5010 | 110830541-110830547, 110853802, 110859226-110859238, 110959369 |
| 279 | F7 | 13 | 0.99475655430712 | 7 | 1335 | 113773036-113773042 |
| 280 | GRK1 | 13 | 0.99704491725768 | 5 | 1692 | 114321793, 114325956-114325959 |
| 281 | RPGRIP1 | 14 | 0.999222999223 | 3 | 3861 | 21785860-21785861, 21798509 |
| 282 | SLC7A7 | 14 | 0.99739583333333 | 4 | 1536 | 23282121-23282124 |
| 283 | PABPN1 | 14 | 0.68729641693811 | 288 | 921 | 23790681-23790706, 23790709, 23790715-23790720, 23790739-23790763, 23790776-23790846, 23790857-23790863, 23790878-23791029 |
| 284 | MYH6 | 14 | 0.99862542955326 | 8 | 5820 | 23852528-23852529, 23857396, 23858204, 23858210, 23858215-23858217 |
| 285 | MYH7 | 14 | 0.9939738292011 | 35 | 5808 | 23886362-23886367, 23886879, 23887516-23887517, 23887526-23887528, 23887532, 23887537, 23887563-23887566, 23891404-23891420 |
| 286 | NRL | 14 | 0.95238095238095 | 34 | 714 | 24550563-24550566, 24550593-24550597, 24550600, 24550604, 24550608-24550610, 24550615-24550623, 24550682-24550685, 24550695-24550701 |
| 287 | PCK2 | 14 | 0.99427977119085 | 11 | 1923 | 24567802-24567809, 24568258-24568260 |
| 288 | TGM1 | 14 | 0.99837000814996 | 4 | 2454 | 24724297-24724300 |
| 289 | FOXG1 | 14 | 0.73401360544218 | 391 | 1470 | 29236563-29236565, 29236574-29236960, 29237739 |
| 290 | COCH | 14 | 0.98124621899577 | 31 | 1653 | 31344266-31344293, 31344307-31344309 |
| 291 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
| 292 | NKX2-1 | 14 | 0.95107794361526 | 59 | 1206 | 36986583, 36986764-36986774, 36986837, 36986843-36986845, 36986906, 36987015, 36987092-36987093, 36987123, 36988393, 36988433-36988436, 36989299-36989331 |
| 293 | FANCM | 14 | 0.98698552139255 | 80 | 6147 | 45623916, 45623953, 45623956, 45623966-45623990, 45623995, 45623998, 45624001, 45636220, 45644457-45644476, 45644694-45644714, 45667909, 45669199-45669202, 45669210-45669211 |
| 294 | MGAT2 | 14 | 0.99925595238095 | 1 | 1344 | 50088141 |
| 295 | C14orf104 | 14 | 0.95624502784407 | 110 | 2514 | 50092559-50092568, 50100693-50100697, 50100774-50100775, 50100779-50100786, 50100861, 50100939-50100941, 50100946, 50100973-50100982, 50100990, 50101062-50101097, 50101259-50101261, 50101368-50101371, 50101412, 50101460-50101483, 50101544 |
| 296 | L2HGDH | 14 | 0.9992816091954 | 1 | 1392 | 50713969 |
| 297 | ATL1 | 14 | 0.99157641395909 | 14 | 1662 | 51089937-51089950 |
| 298 | PYGL | 14 | 0.99724842767296 | 7 | 2544 | 51372155-51372161 |
| 299 | GCH1 | 14 | 0.99734395750332 | 2 | 753 | 55369280-55369281 |
| 300 | SYNE2 | 14 | 0.99720131248794 | 58 | 20724 | 64447431, 64450557-64450562, 64450567-64450572, 64450576, 64469737-64469738, 64556312-64556313, 64556396-64556399, 64580261, 64580269, 64587753, 64587762-64587765, 64655328-64655335, 64682004, 64692112-64692129, 64692132-64692133 |
| 301 | ZFYVE26 | 14 | 0.99317585301837 | 52 | 7620 | 68242688, 68257299, 68274192-68274231, 68274602-68274608, 68280759-68280761 |
| 302 | PSEN1 | 14 | 0.99501424501425 | 7 | 1404 | 73678483-73678489 |
| 303 | VSX2 | 14 | 0.97974217311234 | 22 | 1086 | 74706418, 74706607, 74707909-74707921, 74711914, 74727329-74727333, 74727339 |
| 304 | EIF2B2 | 14 | 0.99526515151515 | 5 | 1056 | 75471574-75471577, 75471584 |
| 305 | MLH3 | 14 | 0.99977074736359 | 1 | 4362 | 75483808 |
| 306 | TGFB3 | 14 | 0.98789346246973 | 15 | 1239 | 76447022-76447029, 76447122-76447124, 76447127-76447130 |
| 307 | ESRRB | 14 | 0.98362802881467 | 25 | 1527 | 76964558, 76964699-76964722 |
| 308 | POMT2 | 14 | 0.99644917887261 | 8 | 2253 | 77745135-77745138, 77745193, 77786935, 77786982, 77786987 |
| 309 | VIPAR | 14 | 0.99460188933873 | 8 | 1482 | 77900633-77900640 |
| 310 | TSHR | 14 | 0.99825708061002 | 4 | 2295 | 81610149-81610152 |
| 311 | GALC | 14 | 0.99854227405248 | 3 | 2058 | 88459326-88459328 |
| 312 | TTC8 | 14 | 0.96899224806202 | 48 | 1548 | 89305824-89305859, 89307792-89307795, 89327656-89327662, 89337898 |
| 313 | ATXN3 | 14 | 0.97974217311234 | 22 | 1086 | 92537357-92537377, 92559639 |
| 314 | SERPINA1 | 14 | 0.99443118536197 | 7 | 1257 | 94847279-94847285 |
| 315 | VRK1 | 14 | 0.97649034424853 | 28 | 1191 | 97304107, 97304136-97304154, 97342383-97342390 |
| 316 | AMN | 14 | 0.94640234948605 | 73 | 1362 | 103394774-103394785, 103395511-103395514, 103395522, 103395525-103395528, 103396570, 103396587-103396598, 103396604, 103396611-103396614, 103396625, 103396629, 103396635, 103396638-103396652, 103396655, 103396660-103396664, 103396760, 103396774, 103396918-103396922, 103396927, 103397016-103397017 |
| 317 | INF2 | 14 | 0.9104 | 336 | 3750 | 105169650, 105170270, 105173617-105173621, 105173643-105173646, 105173747-105173786, 105173794-105173801, 105173856-105174124, 105174168-105174173, 105174186, 105174336 |
| 318 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 319 | SNRPN | 15 | 0.99861687413555 | 1 | 723 | 25223443 |
| 320 | UBE3A | 15 | 0.99315068493151 | 18 | 2628 | 25616251-25616257, 25616620-25616626, 25616750, 25616753, 25616758-25616759 |
| 321 | OCA2 | 15 | 0.99364322606277 | 16 | 2517 | 28096589-28096596, 28263665-28263671, 28326941 |
| 322 | TRPM1 | 15 | 0.99667497921862 | 16 | 4812 | 31320608-31320609, 31320620, 31320640, 31340122-31340133 |
| 323 | SLC12A6 | 15 | 0.99971039675644 | 1 | 3453 | 34530584 |
| 324 | CHST14 | 15 | 0.93280282935455 | 76 | 1131 | 40763441-40763462, 40763486-40763492, 40763501-40763542, 40763569, 40763616, 40763663, 40763755, 40764216 |
| 325 | CDAN1 | 15 | 0.99782844733985 | 8 | 3684 | 43017737, 43017742, 43028667, 43028678, 43028781, 43029281, 43029297-43029298 |
| 326 | TTBK2 | 15 | 0.99705488621151 | 11 | 3735 | 43037995-43038002, 43067903, 43069313, 43109282 |
| 327 | STRC | 15 | 0.98066816816817 | 103 | 5328 | 43895485-43895495, 43896248-43896254, 43896303-43896312, 43896579-43896582, 43900150-43900156, 43905051-43905062, 43905067, 43905072, 43907745-43907753, 43910155-43910166, 43910436-43910444, 43910867-43910878, 43910881, 43910888-43910894 |
| 328 | STRC | 15 | 0.99333333333333 | 13 | 1950 | 44007207-44007215, 44009613-44009615, 44009620 |
| 329 | SPG11 | 15 | 0.99863611565739 | 10 | 7332 | 44941185-44941194 |
| 330 | DUOX2 | 15 | 0.9991392296105 | 4 | 4647 | 45392405-45392407, 45392413 |
| 331 | SLC12A1 | 15 | 0.98575757575758 | 47 | 3300 | 48527128-48527171, 48591413-48591415 |
| 332 | FBN1 | 15 | 0.99825905292479 | 15 | 8616 | 48719879, 48760187-48760193, 48780340, 48780347, 48787719-48787721, 48791190-48791191 |
| 333 | CEP152 | 15 | 0.99919436052367 | 4 | 4965 | 49030719, 49037107-49037109 |
| 334 | PPIB | 15 | 0.99539170506912 | 3 | 651 | 64455122-64455124 |
| 335 | SPG21 | 15 | 0.99892125134844 | 1 | 927 | 65275845 |
| 336 | CLN6 | 15 | 0.9775641025641 | 21 | 936 | 68521852-68521872 |
| 337 | NR2E3 | 15 | 0.99003623188406 | 11 | 1104 | 72103883, 72103914, 72104193, 72105811-72105814, 72105827-72105830 |
| 338 | BBS4 | 15 | 0.99230769230769 | 12 | 1560 | 73029293-73029304 |
| 339 | HCN4 | 15 | 0.95099667774086 | 177 | 3612 | 73614867, 73614889-73614893, 73615070-73615081, 73615131, 73615168-73615174, 73615414, 73615580-73615585, 73615589, 73616133, 73616151-73616152, 73616158-73616159, 73616164-73616184, 73616206, 73616209, 73616230-73616235, 73616592-73616594, 73624513-73624519, 73624633, 73660058-73660065, 73660096-73660112, 73660115, 73660118-73660161, 73660165-73660166, 73660172, 73660246, 73660259-73660271, 73660310-73660313, 73660329, 73660367-73660371, 73660556 |
| 340 | RLBP1 | 15 | 0.9979035639413 | 2 | 954 | 89760371-89760372 |
| 341 | FANCI | 15 | 0.99874592425382 | 5 | 3987 | 89835934-89835937, 89856203 |
| 342 | POLG | 15 | 0.99516129032258 | 18 | 3720 | 89876607-89876608, 89876831, 89876843-89876846, 89876855-89876865 |
| 343 | MESP2 | 15 | 0.97319932998325 | 32 | 1194 | 90319688-90319697, 90319824-90319830, 90320062, 90320066, 90320135-90320146, 90320161 |
| 344 | BLM | 15 | 0.99717912552891 | 12 | 4254 | 91312719, 91346780-91346790 |
| 345 | VPS33B | 15 | 0.99892125134844 | 2 | 1854 | 91545333, 91545341 |
| 346 | IGF1R | 15 | 0.98976608187135 | 42 | 4104 | 99459954-99459991, 99473476, 99473517-99473519 |
| 347 | HBZ | 16 | 0.68764568764569 | 134 | 429 | 203954-203975, 204007-204053, 204082, 204095, 204271-204333 |
| 348 | HBM | 16 | 0.94600938967136 | 23 | 426 | 216301, 216304, 216309-216311, 216314, 216317, 216327-216329, 216333-216338, 216432-216436, 216444, 216451 |
| 349 | HBA2 | 16 | 0.997668997669 | 1 | 429 | 223221 |
| 350 | CLCN7 | 16 | 0.97311827956989 | 65 | 2418 | 1500606, 1500662, 1502759-1502769, 1524845, 1524850, 1524879-1524913, 1524925-1524930, 1524933-1524941 |
| 351 | IGFALS | 16 | 0.98757763975155 | 24 | 1932 | 1840736, 1841117, 1841121-1841124, 1841131, 1841148-1841153, 1842085, 1842180-1842183, 1842190-1842195 |
| 352 | GFER | 16 | 0.85760517799353 | 88 | 618 | 2034227-2034229, 2034235-2034239, 2034243, 2034280, 2034283-2034284, 2034287, 2034310-2034370, 2034390, 2034412-2034414, 2034420-2034422, 2034426, 2034434-2034438, 2034457 |
| 353 | TSC2 | 16 | 0.99041297935103 | 52 | 5424 | 2103388-2103390, 2103408-2103409, 2120514-2120520, 2121555, 2121831-2121834, 2121854-2121861, 2121866-2121873, 2124366, 2129648-2129655, 2129669-2129670, 2136355, 2136362-2136368 |
| 354 | PKD1 | 16 | 0.88863073110285 | 1438 | 12912 | 2140106-2140153, 2140915, 2140932, 2140970-2140997, 2141007-2141105, 2141142, 2141153-2141161, 2141492-2141493, 2141503, 2141510-2141518, 2141528-2141538, 2142130-2142171, 2143987-2143999, 2147191-2147196, 2147200-2147224, 2147946, 2147949, 2147972, 2149873-2149879, 2149962-2149968, 2150019-2150025, 2150043-2150072, 2150212, 2150478-2150521, 2150561-2150567, 2152107-2152140, 2152168-2152185, 2152383-2152400, 2152838-2152844, 2152922-2152928, 2152965-2152971, 2153267-2153289, 2153542-2153548, 2153592-2153598, 2153660-2153693, 2153699-2153741, 2153754-2153782, 2154584, 2154594-2154643, 2155932-2155938, 2155981-2155987, 2156240-2156254, 2156285-2156291, 2156442-2156450, 2156494-2156526, 2156806-2156817, 2156847-2156853, 2158524, 2159153-2159159, 2159240-2159241, 2159244, 2159279-2159284, 2159287, 2159290, 2159475, 2159486, 2159636-2159642, 2159993-2159999, 2160134-2160140, 2160769-2160775, 2160812, 2161391-2161397, 2162431-2162437, 2163179-2163186, 2164208-2164214, 2164371-2164377, 2164534-2164569, 2164805-2164838, 2164911-2164917, 2165392-2165399, 2165993, 2165998-2166004, 2166564-2166595, 2166835-2166877, 2166915-2166921, 2166972-2166982, 2167545-2167568, 2167591-2167598, 2167870-2167878, 2167915-2167921, 2167965-2168000, 2168056-2168075, 2168103-2168110, 2168153-2168182, 2168209-2168215, 2168311, 2168331, 2168334, 2168340, 2168382, 2168385, 2168390, 2168396, 2168413, 2168766-2168772, 2169115-2169139, 2185483, 2185494-2185539, 2185546-2185690 |
| 355 | ABCA3 | 16 | 0.99530791788856 | 24 | 5115 | 2328989, 2338042-2338063, 2338081 |
| 356 | SLX4 | 16 | 0.99782016348774 | 12 | 5505 | 3632464-3632467, 3639449-3639453, 3642819-3642820, 3647902 |
| 357 | CREBBP | 16 | 0.98922090326102 | 79 | 7329 | 3777719-3777722, 3777726-3777737, 3777792, 3778412, 3778417-3778420, 3778428-3778430, 3778440-3778455, 3778788-3778791, 3778884, 3778957-3778959, 3779176, 3779211, 3779258, 3779264, 3779391-3779394, 3779405, 3779482-3779487, 3779571-3779574, 3808049, 3843539, 3929845-3929849, 3929862, 3929868-3929870 |
| 358 | GLIS2 | 16 | 0.9968253968254 | 5 | 1575 | 4387133, 4387159-4387162 |
| 359 | ALG1 | 16 | 0.93333333333333 | 93 | 1395 | 5121879, 5128860-5128867, 5128877-5128879, 5130952, 5130969-5131002, 5131008-5131052, 5134818 |
| 360 | MYH11 | 16 | 0.9986531986532 | 8 | 5940 | 15835682-15835689 |
| 361 | ABCC6 | 16 | 0.99268617021277 | 33 | 4512 | 16313412, 16313509-16313515, 16317267-16317291 |
| 362 | UMOD | 16 | 0.99271970878835 | 14 | 1923 | 20359854, 20359861, 20359984-20359991, 20360129-20360132 |
| 363 | OTOA | 16 | 0.99269005847953 | 25 | 3420 | 21742176-21742182, 21747694-21747711 |
| 364 | SCNN1B | 16 | 0.99739989599584 | 5 | 1923 | 23360062-23360065, 23360099 |
| 365 | COG7 | 16 | 0.99135322092521 | 20 | 2313 | 23436152-23436171 |
| 366 | PALB2 | 16 | 0.99747262005055 | 9 | 3561 | 23614909-23614917 |
| 367 | CLN3 | 16 | 0.98405466970387 | 21 | 1317 | 28497669-28497674, 28497678-28497692 |
| 368 | TUFM | 16 | 0.98830409356725 | 16 | 1368 | 28857556-28857557, 28857559-28857566, 28857570-28857572, 28857576, 28857580, 28857586 |
| 369 | ATP2A1 | 16 | 0.99866932801065 | 4 | 3006 | 28912144-28912147 |
| 370 | CD19 | 16 | 0.99940155595452 | 1 | 1671 | 28948366 |
| 371 | PHKG2 | 16 | 0.91318591318591 | 106 | 1221 | 30760142-30760236, 30764751-30764759, 30768328-30768329 |
| 372 | FUS | 16 | 0.99873497786211 | 2 | 1581 | 31195293, 31196437 |
| 373 | SLC5A2 | 16 | 0.99405646359584 | 12 | 2019 | 31499951, 31500052-31500056, 31500073-31500078 |
| 374 | PHKB | 16 | 0.99329677026204 | 22 | 3282 | 47628048-47628061, 47683026, 47732381-47732387 |
| 375 | NOD2 | 16 | 0.9891130323407 | 34 | 3123 | 50745016-50745039, 50745819, 50745965-50745973 |
| 376 | CYLD | 16 | 0.99475890985325 | 15 | 2862 | 50785570-50785571, 50785675, 50820802-50820813 |
| 377 | SALL1 | 16 | 0.98138364779874 | 74 | 3975 | 51175248, 51175418-51175448, 51175652-51175686, 51175694-51175700 |
| 378 | RPGRIP1L | 16 | 0.99366767983789 | 25 | 3948 | 53679598-53679605, 53708973-53708982, 53720368-53720371, 53720396-53720398 |
| 379 | MMP2 | 16 | 0.99747856782653 | 5 | 1983 | 55525799-55525802, 55525809 |
| 380 | BBS2 | 16 | 0.99953831948292 | 1 | 2166 | 56533815 |
| 381 | SLC12A3 | 16 | 0.99806013579049 | 6 | 3093 | 56911997, 56921920-56921924 |
| 382 | HSD11B2 | 16 | 0.85139573070608 | 181 | 1218 | 67465152-67465176, 67465191, 67465193, 67465196-67465209, 67465227, 67465230-67465240, 67465250-67465281, 67465293-67465295, 67465298-67465305, 67465328-67465336, 67465340, 67465343-67465349, 67469651, 67469983-67470005, 67470040-67470045, 67470183, 67470202-67470204, 67470224-67470253, 67470537-67470540 |
| 383 | LCAT | 16 | 0.99168556311413 | 11 | 1323 | 67976974, 67976995-67976997, 67977016-67977022 |
| 384 | CDH1 | 16 | 0.9920724801812 | 21 | 2649 | 68771345-68771365 |
| 385 | COG8 | 16 | 0.99184339314845 | 15 | 1839 | 69368784-69368787, 69373124-69373127, 69373231, 69373259-69373263, 69373279 |
| 386 | AARS | 16 | 0.99931200550396 | 2 | 2907 | 70287187-70287188 |
| 387 | HP | 16 | 0.96969696969697 | 37 | 1221 | 72090435-72090441, 72092159-72092165, 72093014-72093036 |
| 388 | GCSH | 16 | 0.94827586206897 | 27 | 522 | 81129802-81129818, 81129822, 81129825-81129832, 81129867 |
| 389 | GAN | 16 | 0.98717948717949 | 23 | 1794 | 81348757-81348779 |
| 390 | MLYCD | 16 | 0.7638326585695 | 350 | 1482 | 83932765-83932910, 83932928, 83932955-83933055, 83933063-83933114, 83933117-83933122, 83933135-83933169, 83933262-83933270 |
| 391 | LRRC50 | 16 | 0.99954086317723 | 1 | 2178 | 84199444 |
| 392 | FOXF1 | 16 | 0.95701754385965 | 49 | 1140 | 86544179, 86544182-86544223, 86544246, 86544283, 86544595, 86544607, 86544857, 86544922 |
| 393 | FOXC2 | 16 | 0.96879150066401 | 47 | 1506 | 86601089-86601090, 86601093-86601097, 86601117-86601133, 86601427-86601437, 86601665, 86601704-86601706, 86601781, 86601973-86601974, 86602189-86602192, 86602198 |
| 394 | JPH3 | 16 | 0.94837561192701 | 116 | 2247 | 87678142-87678145, 87678148, 87678151, 87723334-87723383, 87723543-87723546, 87723554-87723556, 87723606-87723611, 87723661-87723673, 87723683-87723716 |
| 395 | CYBA | 16 | 0.90986394557823 | 53 | 588 | 88709770, 88709816-88709818, 88709822, 88709833, 88709840, 88709851-88709891, 88709904, 88709970, 88717380-88717381, 88717386 |
| 396 | APRT | 16 | 0.99815837937385 | 1 | 543 | 88878042 |
| 397 | GALNS | 16 | 0.97068196303378 | 46 | 1569 | 88884466, 88884473-88884483, 88923166-88923167, 88923198, 88923206, 88923213, 88923228-88923230, 88923257-88923282 |
| 398 | SPG7 | 16 | 0.98659966499162 | 32 | 2388 | 89590549-89590555, 89595960-89595966, 89598997-89599014 |
| 399 | FANCA | 16 | 0.99175824175824 | 36 | 4368 | 89825051, 89833610-89833625, 89842166-89842168, 89842171-89842173, 89842190, 89857844-89857854, 89882973 |
| 400 | TUBB3 | 16 | 0.97782705099778 | 30 | 1353 | 90001422-90001432, 90001438, 90001731, 90001735-90001738, 90001941, 90001958, 90002126-90002136 |
| 401 | PRPF8 | 17 | 0.99928652968037 | 5 | 7008 | 1554221-1554225 |
| 402 | PAFAH1B1 | 17 | 0.99918896999189 | 1 | 1233 | 2568666 |
| 403 | ASPA | 17 | 0.98301486199575 | 16 | 942 | 3384950-3384960, 3402326-3402330 |
| 404 | CTNS | 17 | 0.96591853699086 | 41 | 1203 | 3543533-3543544, 3560026-3560054 |
| 405 | GP1BA | 17 | 0.97083333333333 | 56 | 1920 | 4835905-4835939, 4836049-4836055, 4836197-4836207, 4837228, 4837744, 4837750 |
| 406 | PITPNM3 | 17 | 0.97982905982906 | 59 | 2925 | 6358692, 6358699, 6358710, 6358724, 6358764-6358768, 6358782, 6358850-6358852, 6358864-6358873, 6358882-6358887, 6358895-6358902, 6358910-6358915, 6358927, 6387058, 6459713-6459726 |
| 407 | ACADVL | 17 | 0.9979674796748 | 4 | 1968 | 7128200-7128203 |
| 408 | CHRNB1 | 17 | 0.99933598937583 | 1 | 1506 | 7348470 |
| 409 | GUCY2D | 17 | 0.96799516908213 | 106 | 3312 | 7906373-7906384, 7906389-7906411, 7906416-7906417, 7906426, 7906442, 7906452, 7906465-7906472, 7906474, 7906477, 7906573-7906574, 7906605, 7906624, 7906702, 7906731, 7906736, 7906759-7906787, 7907178-7907179, 7907197, 7907206-7907208, 7915538-7915545, 7917202, 7919272-7919276 |
| 410 | ALOX12B | 17 | 0.99430199430199 | 12 | 2106 | 7984238, 7990631-7990641 |
| 411 | ALOXE3 | 17 | 0.98876404494382 | 24 | 2136 | 8013240-8013261, 8013270, 8013273 |
| 412 | HES7 | 17 | 0.82890855457227 | 116 | 678 | 8024941-8024947, 8024990, 8025003-8025007, 8025016-8025017, 8025020-8025021, 8025034, 8025085-8025087, 8025090, 8025094-8025099, 8025120-8025134, 8025261, 8025306-8025307, 8025661-8025682, 8025689-8025736 |
| 413 | MYH8 | 17 | 0.99896800825593 | 6 | 5814 | 10297693-10297697, 10302138 |
| 414 | MYH2 | 17 | 0.9991417782355 | 5 | 5826 | 10430063, 10440797-10440800 |
| 415 | ELAC2 | 17 | 0.99395405078597 | 15 | 2481 | 12899065, 12903528-12903533, 12921152-12921159 |
| 416 | COX10 | 17 | 0.98648648648649 | 18 | 1332 | 14005439, 14095309-14095311, 14095345-14095351, 14110415-14110421 |
| 417 | RAI1 | 17 | 0.99160985841636 | 48 | 5721 | 17696313, 17696619-17696622, 17696789, 17697095-17697100, 17697107-17697114, 17697118-17697125, 17697127-17697133, 17697614, 17698039, 17698202-17698204, 17699623, 17700142, 17701546-17701547, 17701570-17701573 |
| 418 | MYO15A | 17 | 0.95723591050694 | 453 | 10593 | 18023747-18023756, 18023970-18023973, 18023993-18024006, 18024009-18024011, 18024028-18024056, 18024061-18024065, 18024118, 18024127-18024187, 18024205-18024238, 18024250-18024257, 18024284, 18024308, 18024335-18024346, 18024356-18024369, 18024389-18024395, 18024402-18024457, 18024473, 18024535-18024566, 18024639, 18024728-18024744, 18024767, 18024777, 18024810-18024811, 18024815, 18029762-18029765, 18039940-18039942, 18039997-18040000, 18043975-18043979, 18049333-18049352, 18049356, 18054809, 18057090-18057092, 18057100-18057145, 18057167-18057169, 18057182, 18057209-18057210, 18061123, 18061139, 18065910, 18070941-18070980, 18077197 |
| 419 | UNC119 | 17 | 0.87828492392808 | 88 | 723 | 26879364-26879376, 26879395, 26879400-26879407, 26879415-26879423, 26879432, 26879441, 26879446-26879450, 26879456-26879465, 26879494-26879498, 26879508-26879539, 26879549-26879551 |
| 420 | SLC6A4 | 17 | 0.99788695192816 | 4 | 1893 | 28536235-28536238 |
| 421 | NF1 | 17 | 0.9900234741784 | 85 | 8520 | 29422328-29422387, 29554616-29554622, 29557394-29557400, 29559091, 29586068, 29586124, 29586127-29586129, 29664542-29664546 |
| 422 | HNF1B | 17 | 0.99522102747909 | 8 | 1674 | 36104815, 36104818-36104824 |
| 423 | TCAP | 17 | 0.97420634920635 | 13 | 504 | 37821720, 37821988-37821995, 37822049, 37822058, 37822121, 37822212 |
| 424 | KRT10 | 17 | 0.91908831908832 | 142 | 1755 | 38975129, 38975160-38975220, 38975227-38975249, 38975315-38975371 |
| 425 | KRT14 | 17 | 0.9661733615222 | 48 | 1419 | 39739553-39739556, 39739592-39739599, 39741304-39741309, 39742843-39742872 |
| 426 | KRT16 | 17 | 0.97819971870605 | 31 | 1422 | 39766588, 39766595-39766610, 39768490-39768496, 39768563-39768569 |
| 427 | KRT17 | 17 | 0.96227867590454 | 49 | 1299 | 39780378-39780384, 39780516-39780540, 39780555-39780571 |
| 428 | FKBP10 | 17 | 0.99942824471126 | 1 | 1749 | 39969290 |
| 429 | STAT5B | 17 | 0.97842639593909 | 51 | 2364 | 40369183-40369195, 40371359-40371365, 40371368-40371371, 40371430-40371453, 40371735, 40384064-40384065 |
| 430 | STAT3 | 17 | 0.98832684824903 | 27 | 2313 | 40476835-40476859, 40489806-40489807 |
| 431 | NAGLU | 17 | 0.97043010752688 | 66 | 2232 | 40688396-40688400, 40688403-40688405, 40688409, 40688413, 40688416-40688419, 40688423-40688429, 40688493, 40688509, 40688512-40688519, 40688544, 40688620-40688631, 40690423-40690435, 40695116-40695118, 40695122-40695123, 40695644-40695647 |
| 432 | WNK4 | 17 | 0.98365487674169 | 61 | 3732 | 40932769-40932772, 40932786-40932794, 40932805-40932849, 40947205-40947207 |
| 433 | BRCA1 | 17 | 0.99504862953139 | 28 | 5655 | 41244049-41244052, 41246028-41246039, 41246259-41246270 |
| 434 | SOST | 17 | 0.98909657320872 | 7 | 642 | 41832885-41832889, 41832931-41832932 |
| 435 | NAGS | 17 | 0.97133956386293 | 46 | 1605 | 42082149-42082179, 42082201-42082202, 42082227, 42083074, 42083420, 42083428, 42083588-42083596 |
| 436 | SLC4A1 | 17 | 0.99488304093567 | 14 | 2736 | 42331898-42331904, 42335142-42335148 |
| 437 | GRN | 17 | 0.97643097643098 | 42 | 1782 | 42429571, 42429576, 42429712, 42429715-42429717, 42429728-42429736, 42429778-42429779, 42429824, 42429897-42429898, 42430050-42430054, 42430058-42430074 |
| 438 | PLEKHM1 | 17 | 0.99779249448124 | 7 | 3171 | 43522965-43522971 |
| 439 | WNT3 | 17 | 0.97565543071161 | 26 | 1068 | 44851094, 44851147, 44851151, 44851225-44851229, 44851239-44851240, 44851243-44851258 |
| 440 | ITGB3 | 17 | 0.98901563160118 | 26 | 2367 | 45331245, 45331258, 45369777, 45369781-45369789, 45369796, 45369806-45369818 |
| 441 | COL1A1 | 17 | 0.97997724687144 | 88 | 4395 | 48264044-48264056, 48266322-48266325, 48266777-48266805, 48267931, 48267942, 48273694-48273728, 48276626, 48276680, 48276686-48276688 |
| 442 | NOG | 17 | 0.99856938483548 | 1 | 699 | 54671857 |
| 443 | RAD51C | 17 | 0.99557913351017 | 5 | 1131 | 56809896-56809900 |
| 444 | TRIM37 | 17 | 0.99758203799655 | 7 | 2895 | 57105926, 57138468-57138469, 57158511-57158514 |
| 445 | TBX4 | 17 | 0.99328449328449 | 11 | 1638 | 59534013-59534021, 59534025-59534026 |
| 446 | BRIP1 | 17 | 0.9888 | 42 | 3750 | 59763206-59763246, 59885834 |
| 447 | ACE | 17 | 0.96072430502423 | 154 | 3921 | 61554456-61554566, 61554577-61554584, 61560857, 61574262, 61574552-61574561, 61574565-61574573, 61574584-61574588, 61574631, 61574634-61574637, 61574644-61574645, 61574696, 61574708 |
| 448 | SCN4A | 17 | 0.9932861549628 | 37 | 5511 | 62018243, 62038712-62038747 |
| 449 | AXIN2 | 17 | 0.99526066350711 | 12 | 2532 | 63533733-63533735, 63553978-63553980, 63553988-63553993 |
| 450 | PRKAR1A | 17 | 0.99825479930192 | 2 | 1146 | 66523981-66523982 |
| 451 | SOX9 | 17 | 0.97516339869281 | 38 | 1530 | 70117829-70117835, 70119791-70119793, 70120031-70120041, 70120088-70120090, 70120104-70120105, 70120131-70120134, 70120233-70120240 |
| 452 | COG1 | 17 | 0.96500169894665 | 103 | 2943 | 71189224-71189238, 71189244-71189246, 71189258, 71189261-71189265, 71189275-71189299, 71189303-71189309, 71189321-71189328, 71189332, 71189338-71189350, 71189403-71189425, 71189487, 71189490 |
| 453 | DNAI2 | 17 | 0.99119911991199 | 16 | 1818 | 72306208-72306215, 72306223-72306230 |
| 454 | USH1G | 17 | 0.995670995671 | 6 | 1386 | 72915755, 72916207-72916211 |
| 455 | TSEN54 | 17 | 0.99367488931056 | 10 | 1581 | 73512653, 73512667, 73512679, 73512827, 73512832-73512834, 73512837, 73512847, 73512910 |
| 456 | ITGB4 | 17 | 0.98756628268422 | 68 | 5469 | 73726968-73726969, 73726972, 73726976-73726979, 73729662, 73733622-73733623, 73739876-73739883, 73749943-73749969, 73750018-73750024, 73751788-73751797, 73751802-73751803, 73751874-73751877 |
| 457 | GALK1 | 17 | 0.98982188295165 | 12 | 1179 | 73759190, 73760037, 73761154, 73761185-73761188, 73761213-73761217 |
| 458 | UNC13D | 17 | 0.98991750687443 | 33 | 3273 | 73825059-73825064, 73826659-73826669, 73827365, 73827377-73827385, 73827388, 73831542, 73832745, 73832762, 73832767, 73832776 |
| 459 | ACOX1 | 17 | 0.99394856278366 | 12 | 1983 | 73944371-73944382 |
| 460 | SEPT9 | 17 | 0.91425326519023 | 151 | 1761 | 75484929-75484935, 75486880-75486887, 75494605-75494740 |
| 461 | GAA | 17 | 0.99440363763554 | 16 | 2859 | 78078597-78078598, 78078663-78078670, 78082503-78082504, 78085790, 78086720, 78087053-78087054 |
| 462 | SGSH | 17 | 0.99602385685885 | 6 | 1509 | 78194025-78194028, 78194079, 78194082 |
| 463 | ACTG1 | 17 | 0.9991134751773 | 1 | 1128 | 79477724 |
| 464 | FSCN2 | 17 | 0.97430696416498 | 38 | 1479 | 79495929, 79503963-79503966, 79504021, 79504032-79504037, 79504041-79504044, 79504047-79504068 |
| 465 | NDUFV2 | 18 | 0.99733333333333 | 2 | 750 | 9102766-9102767 |
| 466 | AFG3L2 | 18 | 0.97744360902256 | 54 | 2394 | 12367048-12367059, 12377000, 12377019, 12377042-12377081 |
| 467 | NPC1 | 18 | 0.99843627834246 | 6 | 3837 | 21115539-21115542, 21166306-21166307 |
| 468 | LAMA3 | 18 | 0.99460107978404 | 54 | 10002 | 21269648-21269649, 21269651-21269654, 21269656-21269658, 21269662-21269665, 21269668, 21269680-21269681, 21269698, 21269712-21269714, 21269730-21269738, 21269746-21269749, 21269772, 21269777-21269778, 21269834, 21269907-21269910, 21269924, 21519288-21519299 |
| 469 | DSC3 | 18 | 0.98253437383872 | 47 | 2691 | 28576781-28576782, 28584298-28584310, 28622581, 28622588-28622609, 28622612-28622620 |
| 470 | DSC2 | 18 | 0.99963045084996 | 1 | 2706 | 28681869 |
| 471 | DSG2 | 18 | 0.99076556449211 | 31 | 3357 | 29078220-29078222, 29078231-29078238, 29102205-29102212, 29115235-29115246 |
| 472 | DTNA | 18 | 0.99910394265233 | 2 | 2232 | 32438249-32438250 |
| 473 | LOXHD1 | 18 | 0.9957805907173 | 28 | 6636 | 44098170-44098173, 44140077, 44140216, 44140276-44140297 |
| 474 | MYO5B | 18 | 0.99314945015324 | 38 | 5547 | 47352944-47352980, 47480729 |
| 475 | ATP8B1 | 18 | 0.99973375931842 | 1 | 3756 | 55328563 |
| 476 | RAX | 18 | 0.98943323727185 | 11 | 1041 | 56936395, 56936437-56936440, 56936507, 56936510, 56936558, 56936561-56936563 |
| 477 | TNFRSF11A | 18 | 0.96704484062669 | 61 | 1851 | 59992586-59992595, 59992603-59992607, 59992612-59992617, 59992620-59992650, 60021754, 60052230-60052237 |
| 478 | CTDP1 | 18 | 0.99410949410949 | 17 | 2886 | 77439952-77439956, 77440029, 77440032-77440035, 77440038, 77440043-77440046, 77457963, 77513721 |
| 479 | ELANE | 19 | 0.818407960199 | 146 | 804 | 852340, 853015-853017, 853262-853403 |
| 480 | KISS1R | 19 | 0.74185463659148 | 309 | 1197 | 917659-917668, 918562-918565, 918631-918633, 918645-918651, 918657-918668, 919527-919536, 919890-919893, 919912, 919917, 919920-919921, 919924-919931, 919970-919971, 920031, 920075-920098, 920299-920387, 920406-920450, 920461, 920498-920516, 920561-920601, 920633, 920642, 920657-920673, 920738-920743 |
| 481 | STK11 | 19 | 0.99923195084485 | 1 | 1302 | 1219403 |
| 482 | GAMT | 19 | 0.99382716049383 | 5 | 810 | 1401310-1401314 |
| 483 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 484 | TUBB4 | 19 | 0.99250936329588 | 10 | 1335 | 6495438, 6495648-6495649, 6495665-6495670, 6495680 |
| 485 | C3 | 19 | 0.98297275641026 | 85 | 4992 | 6694572-6694582, 6707087, 6707095-6707129, 6707151, 6707163-6707166, 6707229-6707234, 6707825-6707848, 6709769, 6714180, 6714195 |
| 486 | INSR | 19 | 0.99252832007713 | 31 | 4149 | 7142834-7142841, 7184499, 7184530-7184531, 7184563, 7184566, 7184642, 7267867, 7267870, 7293843, 7293847, 7293852-7293858, 7293863, 7293868-7293872 |
| 487 | MCOLN1 | 19 | 0.99311531841652 | 12 | 1743 | 7594504-7594505, 7595264-7595268, 7595276-7595279, 7598508 |
| 488 | PNPLA6 | 19 | 0.98393574297189 | 64 | 3984 | 7606917-7606919, 7615248, 7615899-7615905, 7615910-7615912, 7616284, 7616299, 7619506-7619521, 7620233-7620253, 7620553-7620563 |
| 489 | STXBP2 | 19 | 0.98989898989899 | 18 | 1782 | 7702038-7702052, 7706695, 7707107, 7708098 |
| 490 | ADAMTS10 | 19 | 0.9951690821256 | 16 | 3312 | 8650086, 8650101-8650107, 8650348, 8654218, 8654221-8654225, 8654228 |
| 491 | TYK2 | 19 | 0.98961840628507 | 37 | 3564 | 10463144, 10463147, 10463614-10463615, 10463618, 10463622-10463626, 10463708-10463730, 10464230-10464232, 10464242 |
| 492 | DNM2 | 19 | 0.99885189437428 | 3 | 2613 | 10941662, 10941665, 10941668 |
| 493 | PRKCSH | 19 | 0.98865784499055 | 18 | 1587 | 11558341-11558343, 11558348, 11558351-11558364 |
| 494 | MAN2B1 | 19 | 0.99538866930171 | 14 | 3036 | 12759029-12759031, 12759100, 12767849, 12767852-12767853, 12767859-12767865 |
| 495 | CACNA1A | 19 | 0.94827815450073 | 389 | 7521 | 13318267-13318278, 13318286-13318292, 13318376-13318383, 13318409-13318454, 13318491, 13318505-13318572, 13318583-13318628, 13318641-13318721, 13318763-13318764, 13318782-13318824, 13318835, 13318850-13318852, 13318861-13318865, 13319692-13319694, 13320190, 13397697-13397701, 13409498, 13409577-13409601, 13409604-13409606, 13409609, 13616958-13616960, 13616972-13616994, 13617003 |
| 496 | NOTCH3 | 19 | 0.97301177146138 | 188 | 6966 | 15271754-15271758, 15271763, 15271868, 15271991-15271999, 15281177-15281184, 15281310-15281332, 15281507, 15281516, 15281528-15281529, 15281535, 15288568-15288576, 15288620-15288627, 15288647-15288658, 15288745, 15303008-15303011, 15311615-15311716 |
| 497 | JAK3 | 19 | 0.97955555555556 | 69 | 3375 | 17940917-17940961, 17940977-17940991, 17941313-17941315, 17941322, 17941329, 17941335, 17945489, 17945499, 17945502 |
| 498 | SLC5A5 | 19 | 0.9787784679089 | 41 | 1932 | 17984959-17984990, 17985003, 17994541-17994547, 18001767 |
| 499 | COMP | 19 | 0.95294635004398 | 107 | 2274 | 18895130-18895133, 18896504, 18896529, 18896775-18896792, 18899229-18899238, 18900013, 18900751-18900756, 18900759-18900801, 18900809, 18900812-18900818, 18900872, 18900901-18900902, 18900912-18900921, 18901660, 18901668 |
| 500 | CEBPA | 19 | 0.6480965645311 | 379 | 1077 | 33792429, 33792547, 33792576-33792578, 33792583-33792620, 33792727-33792779, 33792853-33792863, 33792866-33792867, 33792884-33792891, 33792909-33792952, 33792970, 33792973, 33792989-33792990, 33792996-33793035, 33793038-33793040, 33793043, 33793046-33793049, 33793053-33793054, 33793147-33793305, 33793316-33793320 |
| 501 | SCN1B | 19 | 0.9368029739777 | 51 | 807 | 35521725-35521764, 35523506-35523513, 35524802-35524804 |
| 502 | MAG | 19 | 0.99415204678363 | 11 | 1881 | 35790477, 35791051, 35791076-35791077, 35791130-35791135, 35791255 |
| 503 | PRODH2 | 19 | 0.99503414028554 | 8 | 1611 | 36297715-36297718, 36297729-36297731, 36303319 |
| 504 | NPHS1 | 19 | 0.9922168545357 | 29 | 3726 | 36321991-36322001, 36336338-36336341, 36336610-36336614, 36336620, 36336624-36336625, 36336659, 36336662, 36336665, 36336690, 36339573-36339574 |
| 505 | SDHAF1 | 19 | 0.92816091954023 | 25 | 348 | 36486235, 36486310, 36486314, 36486370-36486377, 36486401-36486414 |
| 506 | RYR1 | 19 | 0.9829992723424 | 257 | 15117 | 38931404-38931409, 38931418, 38931421-38931423, 38931429-38931431, 38976336-38976338, 38976352-38976355, 38976363, 38976674, 38976779-38976780, 38987506-38987507, 38993172, 38993175, 38993178-38993182, 38993205-38993206, 38998404-38998408, 38998421-38998423, 38998432-38998436, 39013683, 39055716, 39055719-39055723, 39055764-39055810, 39055823-39055829, 39055836-39055845, 39055857, 39055860, 39055868-39055890, 39055896, 39055898, 39055913-39055914, 39055921, 39055932, 39055948-39056019, 39056031-39056045, 39056138-39056139, 39056221, 39056404-39056411, 39068563-39068566, 39068569-39068573 |
| 507 | ACTN4 | 19 | 0.98391812865497 | 44 | 2736 | 39138426-39138429, 39138491, 39138495-39138510, 39138523-39138525, 39138531-39138545, 39200950-39200952, 39214636-39214637 |
| 508 | DLL3 | 19 | 0.99084544964997 | 17 | 1857 | 39993508, 39993573-39993575, 39993582, 39993598-39993606, 39993628, 39997871, 39998137 |
| 509 | PRX | 19 | 0.95736434108527 | 187 | 4386 | 40900916, 40901308-40901317, 40901323-40901331, 40903092-40903098, 40903399-40903402, 40903405, 40903418-40903419, 40903424-40903431, 40903734-40903740, 40909613-40909614, 40909634-40909769 |
| 510 | TGFB1 | 19 | 0.97271952259165 | 32 | 1173 | 41837055-41837077, 41858921-41858929 |
| 511 | BCKDHA | 19 | 0.99402092675635 | 8 | 1338 | 41929049-41929056 |
| 512 | RPS19 | 19 | 0.99543378995434 | 2 | 438 | 42364902, 42364905 |
| 513 | ATP1A3 | 19 | 0.97770527460576 | 82 | 3678 | 42471026-42471033, 42471039, 42471043-42471050, 42471221, 42471324, 42471331-42471336, 42480568-42480600, 42480636, 42480639-42480644, 42480667-42480676, 42482090-42482096 |
| 514 | ETHE1 | 19 | 0.96862745098039 | 24 | 765 | 44012186, 44012212, 44031249-44031270 |
| 515 | BCAM | 19 | 0.95548489666137 | 84 | 1887 | 45312382, 45312388-45312402, 45312410, 45312415, 45312420-45312428, 45312441-45312444, 45312449, 45317461-45317463, 45322951-45322953, 45324034-45324079 |
| 516 | APOE | 19 | 0.9664570230608 | 32 | 954 | 45411951-45411958, 45412019-45412023, 45412026, 45412133, 45412136, 45412350-45412353, 45412464-45412475 |
| 517 | BLOC1S3 | 19 | 0.9688013136289 | 19 | 609 | 45683036-45683054 |
| 518 | ERCC2 | 19 | 0.99561979851073 | 10 | 2283 | 45867005, 45872353-45872361 |
| 519 | OPA3 | 19 | 0.99815837937385 | 1 | 543 | 46087950 |
| 520 | SIX5 | 19 | 0.93108108108108 | 153 | 2220 | 46269631-46269641, 46269824-46269854, 46269877-46269883, 46271469-46271470, 46271565, 46271568-46271573, 46271576, 46271579, 46271598-46271600, 46271603, 46271606, 46271718, 46271785-46271793, 46271802, 46271805-46271809, 46271813, 46271816-46271825, 46271835-46271859, 46271874-46271875, 46271878, 46271893, 46271915, 46271937, 46271981, 46272036-46272038, 46272062-46272076, 46272079-46272081, 46272083-46272090 |
| 521 | DMPK | 19 | 0.94603174603175 | 102 | 1890 | 46274245, 46274266, 46274301-46274307, 46285492, 46285495, 46285507-46285509, 46285523-46285610 |
| 522 | FKRP | 19 | 0.85752688172043 | 212 | 1488 | 47259015-47259024, 47259151, 47259155, 47259270, 47259355, 47259428-47259484, 47259490-47259529, 47259607-47259639, 47259649-47259687, 47259838-47259853, 47260064-47260068, 47260089, 47260092-47260098 |
| 523 | CRX | 19 | 0.99888888888889 | 1 | 900 | 48342641 |
| 524 | DBP | 19 | 0.90184049079755 | 96 | 978 | 49138838-49138865, 49138867-49138869, 49138888-49138892, 49138909-49138915, 49138950-49138956, 49138960-49138977, 49139088, 49139107-49139114, 49139124-49139125, 49139135, 49139139-49139144, 49140198-49140207 |
| 525 | BCAT2 | 19 | 0.9991518235793 | 1 | 1179 | 49303464 |
| 526 | MED25 | 19 | 0.99153297682709 | 19 | 2244 | 50321621, 50333115, 50333375, 50333769, 50334109, 50334127, 50334130, 50339499-50339505, 50339508-50339510, 50339516-50339517 |
| 527 | PNKP | 19 | 0.99489144316731 | 8 | 1566 | 50365029-50365033, 50365644, 50365652, 50365826 |
| 528 | MYH14 | 19 | 0.98445426280478 | 95 | 6111 | 50713673-50713682, 50713976-50713980, 50770211-50770241, 50771505-50771515, 50780056-50780058, 50780132-50780158, 50789916-50789923 |
| 529 | KCNC3 | 19 | 0.6301671064204 | 841 | 2274 | 50823503-50823571, 50823574-50823575, 50823578-50823583, 50823586-50823587, 50826268-50826295, 50826314-50826351, 50826381, 50826388-50826390, 50826402, 50826445-50826458, 50826468, 50826557, 50826624, 50831499-50831509, 50831517-50831525, 50831543-50831587, 50831606-50831643, 50831682, 50831690-50831795, 50831802-50831817, 50831820-50831823, 50831838-50832082, 50832092-50832098, 50832103, 50832106-50832109, 50832113-50832117, 50832122-50832125, 50832140, 50832144-50832145, 50832148-50832152, 50832170-50832339 |
| 530 | KLK4 | 19 | 0.97647058823529 | 18 | 765 | 51412528, 51412627, 51412631-51412641, 51412650-51412654 |
| 531 | NLRP12 | 19 | 0.98305084745763 | 54 | 3186 | 54313319, 54313594-54313600, 54313623-54313627, 54313637-54313668, 54313852-54313854, 54313864, 54313869, 54313883-54313885, 54314391 |
| 532 | PRKCG | 19 | 0.95654250238777 | 91 | 2094 | 54385817, 54385820, 54392938, 54392949-54392952, 54392954, 54392975-54392978, 54392987-54392997, 54393140-54393141, 54393144-54393146, 54393170-54393179, 54393190-54393192, 54393204-54393211, 54393216-54393217, 54393226-54393228, 54393238, 54393242-54393247, 54393256-54393271, 54403974-54403980, 54409620-54409626 |
| 533 | PRPF31 | 19 | 0.99733333333333 | 4 | 1500 | 54627128-54627130, 54627133 |
| 534 | TSEN34 | 19 | 0.9924973204716 | 7 | 933 | 54695321, 54695333, 54695356-54695359, 54695363 |
| 535 | NLRP7 | 19 | 0.98747591522158 | 39 | 3114 | 55445062-55445069, 55450414-55450436, 55450953, 55451167-55451173 |
| 536 | TNNT1 | 19 | 0.98479087452471 | 12 | 789 | 55652279, 55652324-55652328, 55657802-55657806, 55658056 |
| 537 | TNNI3 | 19 | 0.99178981937603 | 5 | 609 | 55667579, 55667692, 55667695-55667696, 55667700 |
| 538 | AURKC | 19 | 0.99139784946237 | 8 | 930 | 57746265-57746272 |
| 539 | TPO | 2 | 0.99892933618844 | 3 | 2802 | 1480976-1480977, 1481231 |
| 540 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 541 | LPIN1 | 2 | 0.99962588851478 | 1 | 2673 | 11964841 |
| 542 | MYCN | 2 | 0.96989247311828 | 42 | 1395 | 16082454, 16082457, 16082465, 16082570, 16082573-16082577, 16082597-16082615, 16082618-16082620, 16082640, 16082659, 16082785-16082791, 16085846-16085847 |
| 543 | MATN3 | 2 | 0.99726214921287 | 4 | 1461 | 20212209, 20212373, 20212376, 20212379 |
| 544 | APOB | 2 | 0.99664037394099 | 46 | 13692 | 21225017-21225020, 21225077, 21231938-21231954, 21266751, 21266761-21266765, 21266773-21266789, 21266799 |
| 545 | POMC | 2 | 0.89676616915423 | 83 | 804 | 25384033, 25384357, 25384378, 25384384-25384390, 25384409-25384480, 25387624 |
| 546 | HADHA | 2 | 0.99650959860384 | 8 | 2292 | 26416481-26416488 |
| 547 | OTOF | 2 | 0.96946946946947 | 183 | 5994 | 26697389, 26697403-26697414, 26699759-26699911, 26700115-26700119, 26700132-26700140, 26712594-26712596 |
| 548 | C2orf71 | 2 | 0.98732867856219 | 49 | 3867 | 29293888-29293889, 29294038, 29294103-29294129, 29295170-29295187, 29295372 |
| 549 | ALK | 2 | 0.99958873123586 | 2 | 4863 | 30143313, 30143441 |
| 550 | XDH | 2 | 0.99975012493753 | 1 | 4002 | 31560570 |
| 551 | SPAST | 2 | 0.86061588330632 | 258 | 1851 | 32288997-32289040, 32289058, 32289063-32289064, 32289075-32289276, 32289296-32289299, 32289311-32289315 |
| 552 | CYP1B1 | 2 | 0.98345588235294 | 27 | 1632 | 38301969, 38301972, 38301975, 38301978-38301985, 38301992-38302002, 38302199-38302200, 38302232, 38302424, 38302430 |
| 553 | SOS1 | 2 | 0.99400299850075 | 24 | 4002 | 39222395-39222401, 39224411-39224417, 39224511-39224520 |
| 554 | ABCG5 | 2 | 0.99079754601227 | 18 | 1956 | 44058954, 44058959-44058966, 44058988-44058996 |
| 555 | ABCG8 | 2 | 0.99901088031652 | 2 | 2022 | 44099364, 44104925 |
| 556 | LRPPRC | 2 | 0.99307048984468 | 29 | 4185 | 44139647-44139657, 44174870-44174871, 44175332-44175333, 44203343-44203345, 44204324-44204333, 44222955 |
| 557 | SLC3A1 | 2 | 0.99951409135083 | 1 | 2058 | 44502767 |
| 558 | SIX3 | 2 | 0.97597597597598 | 24 | 999 | 45169439, 45171740-45171762 |
| 559 | MSH2 | 2 | 0.98288770053476 | 48 | 2805 | 47639563-47639598, 47639680, 47641438-47641441, 47698145-47698148, 47703655-47703657 |
| 560 | MSH6 | 2 | 0.96889542003429 | 127 | 4083 | 48010423-48010425, 48010436, 48010438-48010445, 48010452-48010565, 48027825 |
| 561 | LHCGR | 2 | 0.96666666666667 | 70 | 2100 | 48915598-48915610, 48982692, 48982746-48982801 |
| 562 | NRXN1 | 2 | 0.99073446327684 | 41 | 4425 | 50149276-50149279, 50149282, 51254939-51254940, 51255121-51255128, 51255132, 51255145, 51255357-51255380 |
| 563 | EFEMP1 | 2 | 0.9608636977058 | 58 | 1482 | 56102151-56102158, 56108844, 56144951-56144999 |
| 564 | FANCL | 2 | 0.99290780141844 | 8 | 1128 | 58392934-58392941 |
| 565 | SPR | 2 | 0.94274809160305 | 45 | 786 | 73114605-73114611, 73114628, 73114636-73114638, 73114652, 73114782, 73114788-73114794, 73114801-73114814, 73115505-73115515 |
| 566 | ALMS1 | 2 | 0.99192258477287 | 101 | 12504 | 73613006-73613011, 73613015-73613022, 73613034-73613066, 73613161, 73676091-73676098, 73676403-73676439, 73827996-73828002, 73828342 |
| 567 | DCTN1 | 2 | 0.99400573364608 | 23 | 3837 | 74592660-74592665, 74597109-74597113, 74597748-74597750, 74598106-74598114 |
| 568 | MOGS | 2 | 0.99840891010342 | 4 | 2514 | 74689611, 74692349-74692351 |
| 569 | HTRA2 | 2 | 0.9760348583878 | 33 | 1377 | 74757141, 74757259-74757266, 74757306, 74757360-74757363, 74757386-74757392, 74757548-74757559 |
| 570 | SUCLG1 | 2 | 0.99327569644573 | 7 | 1041 | 84670459-84670465 |
| 571 | GGCX | 2 | 0.99560825647782 | 10 | 2277 | 85781399, 85786152-85786154, 85788521, 85788525, 85788530, 85788537-85788539 |
| 572 | SFTPB | 2 | 0.9956369982548 | 5 | 1146 | 85895270-85895274 |
| 573 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 574 | EIF2AK3 | 2 | 0.9859743360191 | 47 | 3351 | 88887500-88887503, 88926688-88926712, 88926730-88926732, 88926738-88926747, 88926754-88926758 |
| 575 | TMEM127 | 2 | 0.93165969316597 | 49 | 717 | 96930876-96930878, 96930889, 96930893, 96930923-96930930, 96931033, 96931061-96931095 |
| 576 | SNRNP200 | 2 | 0.9993760723756 | 4 | 6411 | 96947649-96947652 |
| 577 | RANBP2 | 2 | 0.96496124031008 | 339 | 9675 | 109352023-109352030, 109352640-109352641, 109357110-109357116, 109365505-109365512, 109367751-109367757, 109367868-109367874, 109368074-109368111, 109368327-109368342, 109369588-109369615, 109369982-109369994, 109371366-109371391, 109371656-109371662, 109382616-109382641, 109382787-109382793, 109382940-109382946, 109383268-109383274, 109383354-109383360, 109383768-109383774, 109383825, 109383932-109383938, 109384125-109384170, 109384466-109384472, 109384505-109384511, 109384628-109384634, 109384771-109384788, 109389456-109389457, 109389462-109389463, 109399224-109399237 |
| 578 | NPHP1 | 2 | 0.97590953785644 | 49 | 2034 | 110881599-110881600, 110881603, 110917745-110917754, 110917815-110917819, 110922629-110922659 |
| 579 | MERTK | 2 | 0.992 | 24 | 3000 | 112656328, 112656338-112656346, 112656354-112656359, 112722768-112722770, 112786383, 112786434-112786437 |
| 580 | PAX8 | 2 | 0.99852180339985 | 2 | 1353 | 113999671-113999672 |
| 581 | GLI2 | 2 | 0.95799201848351 | 200 | 4761 | 121712924, 121712928, 121729538, 121729601, 121729624, 121742115-121742126, 121746082-121746088, 121746098-121746101, 121746114-121746117, 121746139-121746140, 121746143-121746156, 121746180-121746187, 121746217-121746220, 121746224, 121746233-121746234, 121746243-121746262, 121746267-121746271, 121746295-121746315, 121746343-121746391, 121746397-121746404, 121746452, 121746477, 121746482-121746485, 121746488-121746503, 121746653-121746662, 121746804, 121747550 |
| 582 | BIN1 | 2 | 0.996632996633 | 6 | 1782 | 127808386-127808390, 127816637 |
| 583 | PROC | 2 | 0.95310245310245 | 65 | 1386 | 128178871-128178874, 128180612-128180614, 128180617-128180635, 128180644-128180654, 128180661, 128180674-128180678, 128180688, 128180704-128180711, 128180717-128180718, 128180727-128180730, 128180734-128180739, 128180743 |
| 584 | CFC1 | 2 | 0.88988095238095 | 74 | 672 | 131279610-131279631, 131280381-131280382, 131280389, 131280409, 131280430-131280457, 131280475-131280477, 131285306-131285322 |
| 585 | RAB3GAP1 | 2 | 0.98913781398506 | 32 | 2946 | 135815610, 135815618-135815626, 135888122-135888131, 135926220-135926231 |
| 586 | LCT | 2 | 0.99965421853389 | 2 | 5784 | 136570457, 136575380 |
| 587 | MCM6 | 2 | 0.98621248986212 | 34 | 2466 | 136602235-136602238, 136614421-136614432, 136616941-136616958 |
| 588 | ZEB2 | 2 | 0.99478737997257 | 19 | 3645 | 145161651-145161653, 145274864-145274871, 145274880-145274886, 145274889 |
| 589 | NEB | 2 | 0.99163913087013 | 167 | 19974 | 152370847, 152421558-152421605, 152423955-152423969, 152427047-152427050, 152432691, 152432707-152432708, 152432722-152432724, 152432727-152432728, 152432745-152432817, 152432868, 152482058-152482069, 152496975-152496978, 152497149 |
| 590 | CACNB4 | 2 | 0.99104286628279 | 14 | 1563 | 152955506-152955519 |
| 591 | SCN2A | 2 | 0.99684280491858 | 19 | 6018 | 166170176-166170177, 166170182, 166170442-166170453, 166171986, 166171996, 166221710, 166237672 |
| 592 | GALNT3 | 2 | 0.99737118822292 | 5 | 1902 | 166621504, 166621507-166621510 |
| 593 | SCN1A | 2 | 0.98949474737369 | 63 | 5997 | 166903295-166903308, 166908312-166908319, 166912981-166912984, 166915101-166915137 |
| 594 | SCN9A | 2 | 0.99528142905292 | 28 | 5934 | 167056347, 167094668-167094670, 167094768-167094777, 167129381-167129384, 167144974, 167168070, 167168078, 167168099-167168104, 167168173 |
| 595 | ABCB11 | 2 | 0.9952092788704 | 19 | 3966 | 169836376-169836394 |
| 596 | CHN1 | 2 | 0.99927536231884 | 1 | 1380 | 175869640 |
| 597 | HOXD13 | 2 | 0.89825581395349 | 105 | 1032 | 176957664-176957679, 176957683, 176957690-176957695, 176957711-176957717, 176957737, 176957740, 176957775-176957806, 176957812-176957834, 176957966-176957975, 176958336-176958343 |
| 598 | AGPS | 2 | 0.9711684370258 | 57 | 1977 | 178257607, 178285024-178285030, 178333160, 178346813-178346818, 178346827-178346832, 178346851, 178346855, 178346875, 178362457-178362480, 178372731-178372732, 178372735-178372741 |
| 599 | PRKRA | 2 | 0.99893842887473 | 1 | 942 | 179315708 |
| 600 | TTN | 2 | 0.99780544250259 | 220 | 100248 | 179392338, 179411046-179411049, 179414750, 179418367-179418370, 179425504, 179447818, 179453641-179453652, 179454095-179454106, 179456492-179456498, 179458372, 179460234-179460240, 179499148-179499164, 179500350-179500361, 179516885-179516891, 179523795-179523815, 179523900-179523915, 179527772-179527778, 179538414-179538424, 179542357, 179542520, 179544701-179544702, 179557252-179557255, 179571391-179571395, 179574445-179574451, 179580258-179580265, 179588611-179588617, 179589035-179589041, 179593718, 179598578-179598579, 179598606-179598611, 179634465-179634471, 179658242, 179659148-179659154, 179659943, 179665134-179665143, 179666986 |
| 601 | NEUROD1 | 2 | 0.99253034547152 | 8 | 1071 | 182543545-182543552 |
| 602 | COL3A1 | 2 | 0.98636673483299 | 60 | 4401 | 189850442, 189850449, 189850459-189850460, 189850465-189850466, 189854122-189854127, 189860418-189860420, 189860432-189860454, 189860862-189860868, 189861917-189861923, 189871682-189871685, 189872623-189872625, 189872664 |
| 603 | COL5A2 | 2 | 0.99688888888889 | 14 | 4500 | 189916910, 189916927-189916934, 189932778-189932781, 189951496 |
| 604 | PMS1 | 2 | 0.98713826366559 | 36 | 2799 | 190718726-190718741, 190719001, 190728705, 190728713-190728726, 190728733-190728736 |
| 605 | STAT1 | 2 | 0.98801597869507 | 27 | 2253 | 191859865-191859868, 191859888-191859891, 191859893-191859894, 191859899-191859902, 191859913-191859925 |
| 606 | CASP8 | 2 | 0.98948670377242 | 17 | 1617 | 202137414, 202137419, 202149629, 202149795-202149808 |
| 607 | ALS2 | 2 | 0.9929634097306 | 35 | 4974 | 202571570, 202572669-202572677, 202591397-202591407, 202609087-202609094, 202622267, 202626387-202626391 |
| 608 | BMPR2 | 2 | 0.99775425088226 | 7 | 3117 | 203378538-203378541, 203424600-203424602 |
| 609 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 207018361 |
| 610 | FASTKD2 | 2 | 0.9985935302391 | 3 | 2133 | 207636648, 207652783-207652784 |
| 611 | CPS1 | 2 | 0.99911170330891 | 4 | 4503 | 211455538-211455539, 211473171, 211473174 |
| 612 | ABCA12 | 2 | 0.99858757062147 | 11 | 7788 | 215797412, 215797424, 215847000-215847003, 215854138, 215854142-215854144, 215901724 |
| 613 | SMARCAL1 | 2 | 0.99965095986038 | 1 | 2865 | 217285111 |
| 614 | PNKD | 2 | 0.99654576856649 | 4 | 1158 | 219204578, 219204592-219204594 |
| 615 | BCS1L | 2 | 0.99444444444444 | 7 | 1260 | 219527354-219527360 |
| 616 | WNT10A | 2 | 0.9688995215311 | 39 | 1254 | 219745762-219745797, 219757605, 219757611, 219757697 |
| 617 | DES | 2 | 0.9794762915782 | 29 | 1413 | 220283228, 220283242-220283243, 220283246, 220283259, 220283280, 220283361, 220283620, 220283623-220283642, 220283703 |
| 618 | OBSL1 | 2 | 0.94060797750835 | 338 | 5691 | 220416283-220416292, 220416303-220416320, 220416465, 220416910, 220417269-220417309, 220417374, 220417386, 220417391, 220417397-220417400, 220422145-220422157, 220430200, 220435230, 220435236, 220435304-220435353, 220435375, 220435405-220435435, 220435623, 220435650-220435722, 220435729-220435745, 220435749-220435759, 220435770-220435775, 220435779-220435780, 220435900-220435923, 220435925-220435951, 220435954 |
| 619 | COL4A3 | 2 | 0.9870337123479 | 65 | 5013 | 228029511, 228102723, 228134632-228134663, 228142241-228142244, 228142248-228142257, 228163439-228163443, 228163448-228163459 |
| 620 | CHRND | 2 | 0.99227799227799 | 12 | 1554 | 233390930-233390941 |
| 621 | CHRNG | 2 | 0.99292149292149 | 11 | 1554 | 233404461-233404464, 233409564-233409570 |
| 622 | UGT1A1 | 2 | 0.99001248439451 | 16 | 1602 | 234668950-234668954, 234668958-234668959, 234668963-234668971 |
| 623 | COL6A3 | 2 | 0.9962240402769 | 36 | 9534 | 238270435, 238270442-238270445, 238274540-238274542, 238280453-238280455, 238283334, 238287694-238287695, 238296689-238296690, 238303521-238303540 |
| 624 | D2HGDH | 2 | 0.96807151979566 | 50 | 1566 | 242674691-242674697, 242674747-242674749, 242707140, 242707207, 242707212, 242707227, 242707319-242707335, 242707341-242707342, 242707350-242707361, 242707376-242707380 |
| 625 | C20orf54 | 20 | 0.99716312056738 | 4 | 1410 | 744354-744357 |
| 626 | AVP | 20 | 0.56363636363636 | 216 | 495 | 3063276-3063284, 3063295-3063370, 3063383-3063417, 3063623-3063641, 3063645, 3063648, 3063651-3063658, 3063662-3063684, 3063713-3063714, 3063726-3063732, 3063759-3063769, 3063775-3063781, 3063799-3063808, 3063813, 3063819-3063824 |
| 627 | PANK2 | 20 | 0.87273788674839 | 218 | 1713 | 3869832-3869860, 3869872-3869873, 3869877, 3869880, 3869911-3869952, 3869983-3869989, 3869994, 3869998-3870010, 3870102-3870108, 3870173-3870287 |
| 628 | FERMT1 | 20 | 0.99754178957719 | 5 | 2034 | 6088195-6088198, 6100101 |
| 629 | JAG1 | 20 | 0.99207000273448 | 29 | 3657 | 10653545-10653554, 10653621-10653629, 10654147, 10654150, 10654159-10654162, 10654175-10654178 |
| 630 | C20orf7 | 20 | 0.97591522157996 | 25 | 1038 | 13769235-13769236, 13782136-13782143, 13782266-13782280 |
| 631 | THBD | 20 | 0.97511574074074 | 43 | 1728 | 23029675, 23029682, 23029871-23029903, 23030085-23030088, 23030091-23030094 |
| 632 | SNTA1 | 20 | 0.92819499341238 | 109 | 1518 | 32000207-32000208, 32031152, 32031167-32031221, 32031231, 32031339-32031362, 32031371, 32031375-32031381, 32031384-32031390, 32031401-32031411 |
| 633 | GDF5 | 20 | 0.99468791500664 | 8 | 1506 | 34025123-34025130 |
| 634 | HNF4A | 20 | 0.99298245614035 | 10 | 1425 | 43052773-43052775, 43052781-43052787 |
| 635 | ADA | 20 | 0.99908424908425 | 1 | 1092 | 43280222 |
| 636 | CTSA | 20 | 0.99198396793587 | 12 | 1497 | 44520233-44520243, 44523633 |
| 637 | SLC2A10 | 20 | 0.99938499384994 | 1 | 1626 | 45354534 |
| 638 | DPM1 | 20 | 0.96679438058748 | 26 | 783 | 49551754-49551773, 49557449-49557452, 49557462-49557463 |
| 639 | SALL4 | 20 | 0.99620493358634 | 12 | 3162 | 50407179, 50408343, 50408351-50408353, 50418836, 50418840, 50418844, 50418848-50418851 |
| 640 | VAPB | 20 | 0.99863387978142 | 1 | 732 | 57014076 |
| 641 | GNAS | 20 | 0.99068721901092 | 29 | 3114 | 57430034, 57430043-57430059, 57430072-57430077, 57430105, 57430108, 57430112-57430114 |
| 642 | COL9A3 | 20 | 0.95231143552311 | 98 | 2055 | 61448424-61448434, 61448439-61448440, 61448443-61448446, 61448450-61448484, 61448490, 61456357-61456373, 61461915, 61467572-61467583, 61468556-61468566, 61468571-61468574 |
| 643 | CHRNA4 | 20 | 0.98885350318471 | 21 | 1884 | 61981328, 61981677, 61992477-61992495 |
| 644 | KCNQ2 | 20 | 0.9606720122184 | 103 | 2619 | 62038132-62038138, 62038406-62038446, 62038727-62038728, 62046342-62046348, 62073788-62073794, 62073798, 62076663, 62103637-62103638, 62103650-62103673, 62103679-62103681, 62103711, 62103721-62103727 |
| 645 | SOX18 | 20 | 0.55064935064935 | 519 | 1155 | 62679731, 62679773, 62679776-62679778, 62679834-62679860, 62679951-62679952, 62680032, 62680071-62680072, 62680078-62680098, 62680103-62680105, 62680112, 62680159-62680257, 62680512-62680869 |
| 646 | APP | 21 | 0.99913532209252 | 2 | 2313 | 27284107, 27348313 |
| 647 | BACH1 | 21 | 0.98959746720941 | 23 | 2211 | 30715032-30715054 |
| 648 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 649 | KCNE1 | 21 | 0.9974358974359 | 1 | 390 | 35821823 |
| 650 | RCAN1 | 21 | 0.92094861660079 | 60 | 759 | 35987170, 35987184-35987200, 35987209-35987218, 35987220-35987222, 35987226, 35987241-35987267, 35987270 |
| 651 | RUNX1 | 21 | 0.97920997920998 | 30 | 1443 | 36164432-36164443, 36164462, 36259321-36259322, 36259349-36259357, 36259372-36259377 |
| 652 | CBS | 21 | 0.9993961352657 | 1 | 1656 | 44478971 |
| 653 | CSTB | 21 | 0.99326599326599 | 2 | 297 | 45196133, 45196136 |
| 654 | AIRE | 21 | 0.92673992673993 | 120 | 1638 | 45705926-45705932, 45706965, 45712878-45712883, 45712908-45712914, 45712936-45712937, 45712960, 45712973-45713002, 45713011-45713016, 45713023-45713024, 45713040-45713057, 45714285-45714290, 45714293-45714295, 45714300-45714310, 45714345-45714349, 45716314-45716328 |
| 655 | ITGB2 | 21 | 0.97705627705628 | 53 | 2310 | 46308608-46308609, 46308615-46308625, 46308635-46308636, 46308641-46308643, 46308647-46308655, 46308662, 46308676-46308700 |
| 656 | COL18A1 | 21 | 0.97701804368471 | 121 | 5265 | 46876187-46876210, 46876525-46876559, 46876649-46876657, 46876673, 46876685, 46876723-46876745, 46888212-46888215, 46888226, 46888238-46888240, 46888657-46888659, 46911220, 46923925-46923928, 46923937-46923943, 46929484-46929486, 46930158, 46930163 |
| 657 | COL6A1 | 21 | 0.95853579527049 | 128 | 3087 | 47401765-47401827, 47409029-47409051, 47410172-47410198, 47419586, 47419591-47419597, 47419603-47419606, 47420673, 47423332, 47423442 |
| 658 | COL6A2 | 21 | 0.99313725490196 | 21 | 3060 | 47531459-47531461, 47545379-47545385, 47552025-47552026, 47552029-47552034, 47552038, 47552166, 47552192 |
| 659 | COL6A2 | 21 | 0.99707602339181 | 1 | 342 | 47552192 |
| 660 | FTCD | 21 | 0.97847478474785 | 35 | 1626 | 47565445, 47565486-47565492, 47565741-47565743, 47565746-47565754, 47565762-47565776 |
| 661 | PCNT | 21 | 0.98751373489162 | 125 | 10011 | 47744178, 47744181-47744191, 47786646-47786655, 47801710-47801755, 47805803-47805809, 47811095-47811102, 47817959, 47817997, 47818005, 47831408-47831414, 47831437-47831459, 47832898-47832906 |
| 662 | PEX26 | 22 | 0.99346405228758 | 6 | 918 | 18561229-18561234 |
| 663 | PRODH | 22 | 0.91902384914032 | 146 | 1803 | 18908899-18908906, 18923534-18923564, 18923576-18923638, 18923707-18923715, 18923726-18923733, 18923736, 18923741, 18923745, 18923755-18923766, 18923773, 18923777-18923782, 18923786-18923790 |
| 664 | GP1BB | 22 | 0.77616747181965 | 139 | 621 | 19711377-19711414, 19711449-19711451, 19711469, 19711472, 19711487, 19711491-19711492, 19711654-19711657, 19711667-19711671, 19711722-19711754, 19711778-19711782, 19711798-19711799, 19711802-19711809, 19711814-19711817, 19711822-19711828, 19711831, 19711860-19711861, 19711874-19711881, 19711887-19711889, 19711896-19711898, 19711914-19711921 |
| 665 | TBX1 | 22 | 0.70362903225806 | 441 | 1488 | 19748428-19748629, 19748645-19748682, 19748693-19748727, 19753430-19753500, 19753515-19753525, 19753913, 19753920, 19753925-19753934, 19753939, 19753944-19753983, 19754021-19754024, 19754030-19754033, 19754041-19754045, 19754091, 19754102-19754103, 19754111-19754112, 19754117-19754120, 19754263, 19754292, 19754353-19754359 |
| 666 | SMARCB1 | 22 | 0.99395509499136 | 7 | 1158 | 24134065-24134071 |
| 667 | UPB1 | 22 | 0.99047619047619 | 11 | 1155 | 24906753-24906756, 24906778-24906784 |
| 668 | HPS4 | 22 | 0.99431818181818 | 12 | 2112 | 26854520-26854526, 26859942, 26860674-26860677 |
| 669 | CHEK2 | 22 | 0.92504258943782 | 132 | 1761 | 29083906-29083926, 29083935-29083966, 29085160-29085194, 29090020-29090033, 29091778-29091791, 29091837-29091844, 29115390-29115397 |
| 670 | NF2 | 22 | 0.99664429530201 | 6 | 1788 | 29999998-30000003 |
| 671 | TCN2 | 22 | 0.99844236760125 | 2 | 1284 | 31011612, 31011618 |
| 672 | SLC5A1 | 22 | 0.99348370927318 | 13 | 1995 | 32463970, 32463975, 32487644-32487647, 32487717-32487718, 32495199-32495202, 32495237 |
| 673 | TIMP3 | 22 | 0.99685534591195 | 2 | 636 | 33198003, 33253280 |
| 674 | LARGE | 22 | 0.99691765741964 | 7 | 2271 | 33780221-33780227 |
| 675 | MYH9 | 22 | 0.99354071052184 | 38 | 5883 | 36685231-36685236, 36688100, 36688106-36688108, 36688111-36688115, 36691551, 36691558, 36696277-36696297 |
| 676 | TRIOBP | 22 | 0.97971259509721 | 144 | 7098 | 38111837, 38111851, 38111860-38111862, 38111865, 38119891-38119919, 38119976-38119999, 38120037-38120068, 38120193-38120199, 38120417-38120440, 38122448, 38122453-38122455, 38122462, 38130720-38130729, 38147807-38147810, 38153924, 38153935, 38165160 |
| 677 | SOX10 | 22 | 0.99928622412562 | 1 | 1401 | 38379685 |
| 678 | PLA2G6 | 22 | 0.99958694754234 | 1 | 2421 | 38516800 |
| 679 | EP300 | 22 | 0.99392684610076 | 44 | 7245 | 41513254-41513278, 41527458, 41527600, 41546138-41546146, 41546156-41546157, 41546161, 41574046, 41574176, 41574181-41574183 |
| 680 | TNFRSF13C | 22 | 0.84324324324324 | 87 | 555 | 42322124-42322147, 42322218-42322230, 42322233-42322251, 42322266-42322271, 42322284, 42322291-42322295, 42322319, 42322326, 42322668, 42322716, 42322730, 42322733-42322738, 42322754-42322761 |
| 681 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 682 | ATXN10 | 22 | 0.99439775910364 | 8 | 1428 | 46067958, 46068021, 46068025, 46136281-46136282, 46136398-46136400 |
| 683 | ALG12 | 22 | 0.99931833674165 | 1 | 1467 | 50307387 |
| 684 | MLC1 | 22 | 0.98148148148148 | 21 | 1134 | 50502485-50502494, 50502583-50502585, 50502603, 50502606-50502612 |
| 685 | TYMP | 22 | 0.87508626639061 | 181 | 1449 | 50964199-50964230, 50964255-50964274, 50964307-50964322, 50964331-50964333, 50964346, 50964433-50964440, 50964456-50964509, 50964540-50964542, 50964555, 50964559, 50964681, 50964693-50964695, 50964712-50964718, 50964722, 50964732, 50964739-50964741, 50964748-50964751, 50964765-50964773, 50964780, 50964808-50964810, 50964813, 50964818, 50965148-50965152, 50965161-50965162 |
| 686 | ARSA | 22 | 0.98950131233596 | 16 | 1524 | 51063678-51063681, 51063686, 51063704-51063707, 51063712-51063717, 51063861 |
| 687 | SHANK3 | 22 | 0.81216628527841 | 985 | 5244 | 51113070-51113132, 51113503-51113510, 51117542, 51135699-51135700, 51135951-51136143, 51150055-51150066, 51158681-51158684, 51158692-51158693, 51158719-51159043, 51159072-51159079, 51159085-51159117, 51159142-51159144, 51159174, 51159178-51159187, 51159198-51159203, 51159230, 51159262, 51159267-51159272, 51159282-51159288, 51159296-51159299, 51159312-51159315, 51159323, 51159369-51159375, 51159434, 51159463-51159465, 51160328-51160334, 51169157-51169165, 51169175-51169177, 51169180, 51169215-51169216, 51169258-51169269, 51169281, 51169288, 51169291-51169296, 51169333, 51169427-51169436, 51169442, 51169446-51169462, 51169465-51169467, 51169482-51169483, 51169486-51169623, 51169626-51169633, 51169642-51169661, 51169677-51169699, 51169708-51169720, 51169737 |
| 688 | SUMF1 | 3 | 0.99644444444444 | 4 | 1125 | 4458926, 4508828-4508830 |
| 689 | ITPR1 | 3 | 0.99704905938768 | 24 | 8133 | 4726753-4726761, 4774883, 4829663-4829676 |
| 690 | CAV3 | 3 | 0.99780701754386 | 1 | 456 | 8787528 |
| 691 | FANCD2 | 3 | 0.99547101449275 | 20 | 4416 | 10107165-10107171, 10114937-10114949 |
| 692 | VHL | 3 | 0.9595015576324 | 26 | 642 | 10183587-10183593, 10183714, 10183719-10183735, 10183743 |
| 693 | RAF1 | 3 | 0.99640472521828 | 7 | 1947 | 12632346-12632352 |
| 694 | TGFBR2 | 3 | 0.99887577290613 | 2 | 1779 | 30648468-30648469 |
| 695 | GLB1 | 3 | 0.99950835791544 | 1 | 2034 | 33055705 |
| 696 | CRTAP | 3 | 0.95854063018242 | 50 | 1206 | 33155576, 33155583, 33155597-33155601, 33155619-33155646, 33155831, 33155843, 33155846, 33155876, 33155907-33155917 |
| 697 | SCN5A | 3 | 0.99711326201392 | 17 | 5889 | 38592034-38592038, 38592041-38592048, 38592061-38592062, 38651454-38651455 |
| 698 | TMIE | 3 | 0.94989106753813 | 23 | 459 | 46742956, 46743002-46743010, 46743013, 46743016-46743026, 46743034 |
| 699 | TMIE | 3 | 0.95329087048832 | 22 | 471 | 46743002-46743010, 46743013, 46743016-46743026, 46743034 |
| 700 | TREX1 | 3 | 0.99189189189189 | 9 | 1110 | 48507890-48507897, 48508927 |
| 701 | COL7A1 | 3 | 0.99807583474816 | 17 | 8835 | 48605039, 48612849-48612852, 48616644-48616647, 48626835, 48627112, 48627135-48627139, 48627142 |
| 702 | LAMB2 | 3 | 0.99907355938484 | 5 | 5397 | 49160597, 49162827, 49162882-49162884 |
| 703 | AMT | 3 | 0.99257425742574 | 9 | 1212 | 49455096-49455103, 49457769 |
| 704 | GNAT1 | 3 | 0.99145299145299 | 9 | 1053 | 50231531-50231535, 50231541, 50231546, 50231617, 50231621 |
| 705 | HYAL1 | 3 | 0.99923547400612 | 1 | 1308 | 50338016 |
| 706 | RFT1 | 3 | 0.99138991389914 | 14 | 1626 | 53156395-53156402, 53156411-53156412, 53156418, 53156424, 53157785, 53157790 |
| 707 | TKT | 3 | 0.99679487179487 | 6 | 1872 | 53262164-53262165, 53289904-53289907 |
| 708 | HESX1 | 3 | 0.99820788530466 | 1 | 558 | 57232228 |
| 709 | FLNB | 3 | 0.99795108208477 | 16 | 7809 | 58092450-58092456, 58109139-58109141, 58109144-58109146, 58134028-58134030 |
| 710 | PDHB | 3 | 0.99722222222222 | 3 | 1080 | 58419374, 58419397-58419398 |
| 711 | ATXN7 | 3 | 0.88477801268499 | 327 | 2838 | 63898275-63898599, 63981830, 63982103 |
| 712 | PROK2 | 3 | 0.93076923076923 | 27 | 390 | 71830640-71830643, 71834150-71834172 |
| 713 | ROBO2 | 3 | 0.98960599468214 | 43 | 4137 | 77147241, 77530358-77530367, 77637928, 77671396-77671398, 77671471-77671498 |
| 714 | GBE1 | 3 | 0.9995258416311 | 1 | 2109 | 81754714 |
| 715 | POU1F1 | 3 | 0.98846960167715 | 11 | 954 | 87309202-87309212 |
| 716 | PROS1 | 3 | 0.99310684391925 | 14 | 2031 | 93595847-93595848, 93595851, 93595974, 93596000, 93596013, 93611966, 93617388-93617394 |
| 717 | ARL13B | 3 | 0.995337995338 | 6 | 1287 | 93762038-93762041, 93768344, 93768355 |
| 718 | ARL6 | 3 | 0.98752228163993 | 7 | 561 | 97503869-97503875 |
| 719 | CPOX | 3 | 0.98681318681319 | 18 | 1365 | 98312145-98312147, 98312151-98312153, 98312169, 98312173-98312176, 98312295-98312301 |
| 720 | CASR | 3 | 0.99814643188137 | 6 | 3237 | 121981082-121981085, 122002917, 122003606 |
| 721 | UMPS | 3 | 0.996534996535 | 5 | 1443 | 124454050, 124462876-124462879 |
| 722 | ATP2C1 | 3 | 0.99684210526316 | 9 | 2850 | 130673904, 130686221-130686228 |
| 723 | NPHP3 | 3 | 0.94039569246181 | 238 | 3993 | 132423042, 132423180-132423190, 132438549-132438674, 132440994, 132441012-132441019, 132441030-132441039, 132441064, 132441076-132441081, 132441093-132441146, 132441159-132441178 |
| 724 | PCCB | 3 | 0.99753086419753 | 4 | 1620 | 135969359-135969362 |
| 725 | FOXL2 | 3 | 0.83112290008842 | 191 | 1131 | 138664448, 138664544-138664549, 138664554, 138664558-138664559, 138664625, 138664648-138664692, 138664707-138664734, 138664778-138664783, 138664790-138664803, 138664808-138664812, 138664817-138664818, 138664837-138664846, 138664854-138664857, 138664860-138664900, 138665013-138665016, 138665026-138665029, 138665043, 138665046, 138665059, 138665128-138665129, 138665132, 138665152, 138665516-138665520, 138665524-138665528 |
| 726 | PLOD2 | 3 | 0.9951690821256 | 11 | 2277 | 145799597-145799605, 145802959, 145802993 |
| 727 | AGTR1 | 3 | 0.98796296296296 | 13 | 1080 | 148459563-148459575 |
| 728 | HPS3 | 3 | 0.99701492537313 | 9 | 3015 | 148847692-148847696, 148875225-148875228 |
| 729 | CLRN1 | 3 | 0.98283261802575 | 12 | 699 | 150690295-150690306 |
| 730 | GFM1 | 3 | 0.99246453900709 | 17 | 2256 | 158399927-158399943 |
| 731 | IFT80 | 3 | 0.99441580756014 | 13 | 2328 | 159997013, 160075349-160075352, 160083843-160083844, 160099348, 160099400-160099404 |
| 732 | SLC2A2 | 3 | 0.99936507936508 | 1 | 1575 | 170723253 |
| 733 | PLD1 | 3 | 0.99968992248062 | 1 | 3225 | 171404581 |
| 734 | SOX2 | 3 | 0.9748427672956 | 24 | 954 | 181430227, 181430232-181430236, 181430279-181430281, 181430365, 181430416-181430422, 181430534-181430540 |
| 735 | MCCC1 | 3 | 0.99265381083563 | 16 | 2178 | 182759355, 182759358-182759367, 182759373-182759375, 182804524-182804525 |
| 736 | ALG3 | 3 | 0.9749430523918 | 33 | 1317 | 183962987-183962992, 183963000-183963022, 183966625-183966628 |
| 737 | CLCN2 | 3 | 0.9962921764924 | 10 | 2697 | 184064484, 184071142-184071148, 184072385, 184075150 |
| 738 | TP63 | 3 | 0.99314733235438 | 14 | 2043 | 189455559-189455570, 189526099, 189526281 |
| 739 | OPA1 | 3 | 0.99606299212598 | 12 | 3048 | 193332769-193332780 |
| 740 | CPN2 | 3 | 0.997557997558 | 4 | 1638 | 194061917-194061918, 194061921, 194061927 |
| 741 | RPL35A | 3 | 0.97897897897898 | 7 | 333 | 197678043-197678046, 197678053-197678055 |
| 742 | PDE6B | 4 | 0.99415204678363 | 15 | 2565 | 656969-656975, 663840-663847 |
| 743 | IDUA | 4 | 0.87512742099898 | 245 | 1962 | 980873-980921, 980932, 980953-980954, 980971, 980986-981007, 981675-981676, 981684, 995502-995527, 996181-996184, 996593-996602, 996605, 996608, 996615-996693, 996721, 996726, 996872-996878, 996918-996945, 997133-997134, 997196-997199, 997202-997203, 997857 |
| 744 | FGFR3 | 4 | 0.96003296250515 | 97 | 2427 | 1795665-1795671, 1795677-1795684, 1795711, 1801148, 1803141-1803150, 1803242, 1803247, 1803251, 1803358, 1803456-1803464, 1806653, 1806657-1806659, 1806665, 1808312, 1808317-1808318, 1808568-1808595, 1808845-1808849, 1808858, 1808898, 1808918, 1808950-1808954, 1808962-1808964, 1808968-1808970, 1808973, 1808977 |
| 745 | SH3BP2 | 4 | 0.97307485191169 | 50 | 1857 | 2819996-2819997, 2820013-2820015, 2820019-2820031, 2820040-2820047, 2820084-2820086, 2820097-2820117 |
| 746 | HTT | 4 | 0.98377346484251 | 153 | 9429 | 3076601, 3076604-3076651, 3076661-3076666, 3076679-3076684, 3076687, 3076690-3076713, 3076747-3076791, 3076801, 3174776-3174795, 3234890 |
| 747 | DOK7 | 4 | 0.96369636963696 | 55 | 1515 | 3465117-3465118, 3465139-3465156, 3465233-3465245, 3465253-3465256, 3465269-3465275, 3475238, 3478211, 3478224, 3478229, 3478232-3478237, 3495061 |
| 748 | DOK7 | 4 | 0.99830795262267 | 1 | 591 | 3495061 |
| 749 | MSX1 | 4 | 0.90350877192982 | 88 | 912 | 4861711, 4861736-4861759, 4861849-4861854, 4861861, 4861865-4861871, 4861912-4861915, 4861928-4861971, 4864515 |
| 750 | EVC2 | 4 | 0.99312452253629 | 27 | 3927 | 5570266-5570267, 5578094-5578098, 5578108-5578114, 5578123-5578124, 5624715-5624718, 5693054-5693060 |
| 751 | EVC | 4 | 0.96173212487412 | 114 | 2979 | 5713108-5713132, 5713138-5713147, 5713161, 5713172-5713183, 5713206-5713209, 5713214-5713219, 5713226, 5713235-5713240, 5713243-5713249, 5713256-5713257, 5713273-5713278, 5754629-5754644, 5754730, 5800468-5800469, 5809962, 5809987-5809991, 5809995-5809997, 5810002-5810006, 5810012 |
| 752 | WFS1 | 4 | 0.98915076692854 | 29 | 2673 | 6303188, 6303333, 6303883-6303896, 6303953-6303955, 6303970-6303971, 6303982-6303989 |
| 753 | CC2D2A | 4 | 0.99465350606621 | 26 | 4863 | 15534943-15534956, 15562232-15562243 |
| 754 | QDPR | 4 | 0.96326530612245 | 27 | 735 | 17513641-17513648, 17513658-17513676 |
| 755 | CNGA1 | 4 | 0.98157894736842 | 42 | 2280 | 47954610-47954634, 47954655-47954657, 47954670-47954673, 47973014, 47973075-47973077, 47973092, 47973110-47973113, 47973117 |
| 756 | SGCB | 4 | 0.99791013584117 | 2 | 957 | 52895895, 52895907 |
| 757 | PDGFRA | 4 | 0.99969418960245 | 1 | 3270 | 55127390 |
| 758 | KIT | 4 | 0.99965881951552 | 1 | 2931 | 55592167 |
| 759 | GNRHR | 4 | 0.99898682877406 | 1 | 987 | 68606286 |
| 760 | ENAM | 4 | 0.99970836978711 | 1 | 3429 | 71497390 |
| 761 | COQ2 | 4 | 0.98441558441558 | 18 | 1155 | 84205764, 84205823-84205839 |
| 762 | DMP1 | 4 | 0.99799196787149 | 3 | 1494 | 88584027-88584029 |
| 763 | PKD2 | 4 | 0.96353629170967 | 106 | 2907 | 88928927-88928966, 88928981-88928993, 88928996-88929003, 88929006-88929010, 88929055-88929061, 88929093-88929115, 88929291-88929300 |
| 764 | SNCA | 4 | 0.99763593380615 | 1 | 423 | 90749298 |
| 765 | MTTP | 4 | 0.99739292364991 | 7 | 2685 | 100542315-100542321 |
| 766 | MANBA | 4 | 0.9969696969697 | 8 | 2640 | 103560994-103560997, 103610731-103610734 |
| 767 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103808506-103808522, 103808569-103808587 |
| 768 | PITX2 | 4 | 0.96512820512821 | 34 | 975 | 111539749, 111542344-111542376 |
| 769 | ANK2 | 4 | 0.99957891190837 | 5 | 11874 | 114161646, 114161649-114161651, 114161738 |
| 770 | BBS7 | 4 | 0.97625698324022 | 51 | 2148 | 122749791-122749802, 122754396-122754407, 122754461-122754464, 122754472-122754483, 122754489-122754492, 122775859-122775862, 122782741-122782742, 122782750 |
| 771 | NR3C2 | 4 | 0.99966159052453 | 1 | 2955 | 149356595 |
| 772 | CTSO | 4 | 0.95031055900621 | 48 | 966 | 156858593-156858631, 156860577-156860579, 156874965, 156874991-156874995 |
| 773 | GLRB | 4 | 0.96050870147256 | 59 | 1494 | 158041708-158041709, 158041779-158041786, 158057749-158057796, 158091839 |
| 774 | ETFDH | 4 | 0.99892125134844 | 2 | 1854 | 159618711-159618712 |
| 775 | GK | 4 | 0.92238267148014 | 129 | 1662 | 166199162-166199168, 166199345, 166199361, 166199423-166199432, 166199558-166199569, 166199584-166199609, 166200025-166200066, 166200447-166200453, 166200741-166200763 |
| 776 | AGA | 4 | 0.99327569644573 | 7 | 1041 | 178355600-178355604, 178355607-178355608 |
| 777 | F11 | 4 | 0.99627263045793 | 7 | 1878 | 187196966-187196972 |
| 778 | SDHA | 5 | 0.96992481203008 | 60 | 1995 | 218505-218507, 218514, 251108-251149, 251500-251506, 254571-254577 |
| 779 | SLC6A19 | 5 | 0.99160104986877 | 16 | 1905 | 1201812-1201819, 1219629-1219636 |
| 780 | TERT | 5 | 0.92674315975287 | 249 | 3399 | 1279521, 1280365-1280371, 1280425-1280431, 1293455, 1293771, 1294554-1294591, 1294648-1294649, 1294668-1294703, 1294724-1294733, 1294745, 1294902-1294924, 1294959-1294962, 1294968-1294971, 1294991-1295104 |
| 781 | SLC6A3 | 5 | 0.99946323134729 | 1 | 1863 | 1414818 |
| 782 | SDHA | 5 | 0.96330275229358 | 12 | 327 | 1594525-1594529, 1594535-1594537, 1594552-1594555 |
| 783 | NDUFS6 | 5 | 0.98666666666667 | 5 | 375 | 1801585-1801589 |
| 784 | MTRR | 5 | 0.98576675849403 | 31 | 2178 | 7886729, 7897025-7897038, 7897345-7897360 |
| 785 | DNAH5 | 5 | 0.99127927927928 | 121 | 13875 | 13736029, 13810230, 13810266, 13810318, 13894776, 13894779-13894783, 13894910, 13901473, 13901476, 13916457-13916564 |
| 786 | ANKH | 5 | 0.99459093982421 | 8 | 1479 | 14716849-14716856 |
| 787 | FAM134B | 5 | 0.9524765729585 | 71 | 1494 | 16616810-16616836, 16616838-16616841, 16616843-16616844, 16616851, 16616856-16616865, 16616873-16616884, 16616890-16616898, 16616954, 16616963, 16616971-16616974 |
| 788 | AMACR | 5 | 0.97737162750218 | 26 | 1149 | 34007910-34007935 |
| 789 | NIPBL | 5 | 0.9863339275104 | 115 | 8415 | 37036481-37036482, 37036496, 37036528-37036554, 37036580-37036583, 37048604-37048637, 37048697-37048743 |
| 790 | LIFR | 5 | 0.99908925318761 | 3 | 3294 | 38486061, 38490391, 38506007 |
| 791 | OXCT1 | 5 | 0.99424184261036 | 9 | 1563 | 41861429-41861436, 41862762 |
| 792 | FGF10 | 5 | 0.99840510366826 | 1 | 627 | 44388723 |
| 793 | ITGA2 | 5 | 0.99943598420756 | 2 | 3546 | 52285334, 52386374 |
| 794 | MOCS2 | 5 | 0.99823633156966 | 1 | 567 | 52402955 |
| 795 | MOCS2 | 5 | 0.99625468164794 | 1 | 267 | 52402955 |
| 796 | ERCC8 | 5 | 0.99748110831234 | 3 | 1191 | 60224723, 60224739, 60224746 |
| 797 | SMN2 | 5 | 0.95141242937853 | 43 | 885 | 69359242-69359247, 69362945-69362961, 69363228-69363247 |
| 798 | SMN2 | 5 | 0.95028248587571 | 44 | 885 | 70234666-70234671, 70238369-70238385, 70238652-70238671, 70247773 |
| 799 | HEXB | 5 | 0.99940155595452 | 1 | 1671 | 73981144 |
| 800 | AP3B1 | 5 | 0.99147640791476 | 28 | 3285 | 77412007-77412012, 77563356-77563373, 77563390-77563392, 77563405 |
| 801 | ARSB | 5 | 0.97627965043695 | 38 | 1602 | 78251269-78251279, 78280942-78280948, 78280957-78280960, 78280968, 78280973-78280981, 78280984-78280987, 78281055-78281056 |
| 802 | VCAN | 5 | 0.99872436463546 | 13 | 10191 | 82785926, 82786066-82786069, 82818060, 82868298-82868304 |
| 803 | RASA1 | 5 | 0.94147582697201 | 184 | 3144 | 86564488-86564504, 86564534-86564537, 86633862-86633865, 86645031-86645037, 86659187, 86659190, 86669980-86669999, 86670008-86670137 |
| 804 | GPR98 | 5 | 0.99730458221024 | 51 | 18921 | 89918443, 89923064-89923070, 89923317-89923324, 89925264-89925276, 89981737, 90001247, 90008201-90008203, 90020720, 90072373, 90107079, 90107086-90107087, 90124845-90124851, 90144473, 90144585-90144588 |
| 805 | PCSK1 | 5 | 0.99955791335102 | 1 | 2262 | 95764929 |
| 806 | WDR36 | 5 | 0.99824929971989 | 5 | 2856 | 110436357-110436359, 110438085, 110459873 |
| 807 | APC | 5 | 0.99777308954524 | 19 | 8532 | 112170845-112170854, 112179152-112179159, 112179382 |
| 808 | HSD17B4 | 5 | 0.99050203527815 | 21 | 2211 | 118810138-118810149, 118813112-118813113, 118835094-118835100 |
| 809 | ALDH7A1 | 5 | 0.99506172839506 | 8 | 1620 | 125930769-125930776 |
| 810 | LMNB1 | 5 | 0.97955706984668 | 36 | 1761 | 126113201-126113202, 126113412, 126113457-126113464, 126113471-126113476, 126154696-126154714 |
| 811 | FBN2 | 5 | 0.99359194415837 | 56 | 8739 | 127595370, 127614436, 127614442-127614443, 127614446, 127614472, 127645021-127645023, 127645691-127645692, 127645751-127645757, 127685143-127685148, 127685153, 127702085-127702110, 127713547-127713550, 127873057 |
| 812 | TGFBI | 5 | 0.9990253411306 | 2 | 2052 | 135364855, 135364859 |
| 813 | MYOT | 5 | 0.98797595190381 | 18 | 1497 | 137222928-137222931, 137222936-137222942, 137222966-137222972 |
| 814 | MATR3 | 5 | 0.99921383647799 | 2 | 2544 | 138643136, 138643144 |
| 815 | DIAPH1 | 5 | 0.94448808588636 | 212 | 3819 | 140953351, 140953356-140953379, 140953383, 140953386-140953392, 140953441-140953443, 140953452-140953497, 140953507-140953601, 140953614-140953632, 140960413-140960428 |
| 816 | POU4F3 | 5 | 0.99901671583088 | 1 | 1017 | 145719256 |
| 817 | SH3TC2 | 5 | 0.99663822084303 | 13 | 3867 | 148384322-148384329, 148384420-148384424 |
| 818 | TCOF1 | 5 | 0.99632690541781 | 16 | 4356 | 149777928-149777943 |
| 819 | GLRA1 | 5 | 0.99927219796215 | 1 | 1374 | 151202366 |
| 820 | SGCD | 5 | 0.99310344827586 | 6 | 870 | 155935699-155935704 |
| 821 | NKX2-5 | 5 | 0.98051282051282 | 19 | 975 | 172659713-172659721, 172659846, 172659906-172659908, 172659914-172659918, 172661888 |
| 822 | MSX2 | 5 | 0.96019900497512 | 32 | 804 | 174151719, 174151722-174151724, 174151744-174151767, 174151833, 174151843, 174151846, 174151924 |
| 823 | F12 | 5 | 0.99242424242424 | 14 | 1848 | 176830554, 176830614-176830618, 176830958-176830965 |
| 824 | GRM6 | 5 | 0.9081245254366 | 242 | 2634 | 178413686, 178413689-178413696, 178413722-178413724, 178421506-178421535, 178421581-178421616, 178421678-178421679, 178421687-178421702, 178421709-178421710, 178421722-178421738, 178421752-178421804, 178421842-178421844, 178421864-178421874, 178421876-178421906, 178421912-178421939, 178421942 |
| 825 | SQSTM1 | 5 | 0.97430083144369 | 34 | 1323 | 179248007-179248023, 179248046-179248052, 179248056-179248058, 179248073-179248079 |
| 826 | FLT4 | 5 | 0.98509286412512 | 61 | 4092 | 180038364, 180046344-180046345, 180047187-180047199, 180047641-180047644, 180057055, 180076488-180076495, 180076514-180076545 |
| 827 | FOXC1 | 6 | 0.84055354993983 | 265 | 1662 | 1610762, 1610769, 1610792, 1610797-1610798, 1610811-1610812, 1610825-1610834, 1610837-1610838, 1610841-1610855, 1610866-1610873, 1611190, 1611193, 1611295, 1611304-1611307, 1611311-1611312, 1611318-1611320, 1611323, 1611422-1611444, 1611453-1611471, 1611533-1611542, 1611548-1611604, 1611644-1611646, 1611652-1611654, 1611688, 1611700-1611703, 1611707, 1611723-1611729, 1611803-1611827, 1611830-1611846, 1611868, 1611889-1611890, 1611908-1611926, 1611937, 1611948-1611949, 1611965, 1612018-1612021, 1612024, 1612027-1612034, 1612164 |
| 828 | TUBB2B | 6 | 0.96487294469357 | 47 | 1338 | 3225448-3225494 |
| 829 | F13A1 | 6 | 0.99681673487949 | 7 | 2199 | 6305708-6305714 |
| 830 | DSP | 6 | 0.99744661095636 | 22 | 8616 | 7542277, 7565678-7565697, 7578062 |
| 831 | TFAP2A | 6 | 0.99619482496195 | 5 | 1314 | 10398770, 10410329-10410332 |
| 832 | DTNBP1 | 6 | 0.98674242424242 | 14 | 1056 | 15627614-15627622, 15663066, 15663088-15663091 |
| 833 | ATXN1 | 6 | 0.94607843137255 | 132 | 2448 | 16327415-16327419, 16327425-16327429, 16327432-16327434, 16327441, 16327448, 16327844-16327959, 16328417 |
| 834 | NHLRC1 | 6 | 0.99915824915825 | 1 | 1188 | 18122573 |
| 835 | ALDH5A1 | 6 | 0.99878567091682 | 2 | 1647 | 24495399, 24495441 |
| 836 | ZFP57 | 6 | 0.99255121042831 | 12 | 1611 | 29640367-29640378 |
| 837 | HLA-H | 6 | 0.8 | 150 | 750 | 29855764-29855767, 29855797-29855823, 29855846-29855890, 29855901, 29855996-29856001, 29856279, 29856290, 29856306-29856314, 29856318, 29856347, 29856353, 29856368, 29856390, 29856421-29856425, 29856429, 29856439-29856448, 29856516, 29856534, 29856546, 29856550-29856552, 29856565, 29856593-29856614, 29856643, 29856679, 29856686, 29856689, 29856711, 29856718 |
| 838 | TNXB | 6 | 0.917055469155 | 160 | 1929 | 31976916, 31976926, 31977164-31977170, 31977368-31977394, 31977528, 31977538, 31977548, 31977552, 31977786-31977792, 31977994-31978001, 31978498-31978527, 31978781-31978815, 31979326-31979332, 31979451-31979482, 31979526 |
| 839 | CYP21A2 | 6 | 0.94489247311828 | 82 | 1488 | 32006206-32006235, 32006886, 32007404-32007410, 32007787-32007793, 32007843-32007849, 32008195-32008201, 32008448-32008455, 32008893-32008907 |
| 840 | TNXB | 6 | 0.98931573572158 | 136 | 12729 | 32009648-32009664, 32009899-32009905, 32010103-32010129, 32010269-32010289, 32010520-32010526, 32010728-32010735, 32011235, 32011248, 32012180-32012186, 32012330-32012336, 32012380-32012387, 32021355-32021365, 32047109-32047113, 32050067-32050068, 32064124-32064125, 32064140, 32064146-32064148, 32064579 |
| 841 | HLA-DQA1 | 6 | 0.84505208333333 | 119 | 768 | 32605236-32605237, 32605253-32605298, 32609169, 32609181, 32609207, 32609212-32609213, 32609216, 32609227-32609241, 32609312, 32609749, 32609806, 32609813, 32609852-32609876, 32610387-32610406, 32610436 |
| 842 | HLA-DQB1 | 6 | 0.63740458015267 | 285 | 786 | 32629124-32629173, 32629190-32629213, 32629224-32629234, 32629752-32629767, 32629788-32629805, 32629868, 32629963, 32632575-32632653, 32632687-32632724, 32632741-32632750, 32632770, 32632781-32632783, 32632799, 32632802-32632803, 32632818, 32632832, 32634279-32634287, 32634302-32634303, 32634310-32634315, 32634325-32634331, 32634355-32634358 |
| 843 | COL11A2 | 6 | 0.99520245634235 | 25 | 5211 | 33132157, 33138338-33138341, 33138344, 33140090, 33140110, 33140116-33140117, 33140130-33140140, 33146114-33146117 |
| 844 | SYNGAP1 | 6 | 0.89707341269841 | 415 | 4032 | 33388042-33388108, 33393575-33393680, 33410710, 33411197-33411221, 33411349, 33411352, 33411460-33411503, 33411510-33411678, 33419633 |
| 845 | FANCE | 6 | 0.98075729360646 | 31 | 1611 | 35420337, 35420345, 35420360-35420365, 35420387-35420395, 35420399, 35420403-35420410, 35420414, 35420464, 35423582, 35425352-35425353 |
| 846 | TULP1 | 6 | 0.99938612645795 | 1 | 1629 | 35480042 |
| 847 | PEX6 | 6 | 0.96805980292219 | 94 | 2943 | 42935287-42935298, 42946449, 42946466, 42946529-42946531, 42946651-42946655, 42946658, 42946746-42946792, 42946805-42946828 |
| 848 | RSPH9 | 6 | 0.99638989169675 | 3 | 831 | 43612888, 43612912, 43612945 |
| 849 | RUNX2 | 6 | 0.92848020434227 | 112 | 1566 | 45390412-45390413, 45390426-45390535 |
| 850 | CD2AP | 6 | 0.9953125 | 9 | 1920 | 47512426, 47563616-47563618, 47563688-47563692 |
| 851 | MUT | 6 | 0.99511762094984 | 11 | 2253 | 49409609, 49419355, 49421466, 49423917-49423924 |
| 852 | PKHD1 | 6 | 0.99885480572597 | 14 | 12225 | 51497496, 51497499, 51907826-51907829, 51923363-51923365, 51947998-51948002 |
| 853 | EFHC1 | 6 | 0.98387935517421 | 31 | 1923 | 52318988, 52318998-52319009, 52319015-52319017, 52334204-52334218 |
| 854 | EYS | 6 | 0.99523052464229 | 45 | 9435 | 64436568, 65146146, 65523332-65523333, 65596676-65596702, 66115229-66115242 |
| 855 | LMBRD1 | 6 | 0.99199014171288 | 13 | 1623 | 70410761, 70462166-70462168, 70462173-70462181 |
| 856 | COL9A1 | 6 | 0.99566160520607 | 12 | 2766 | 70926724-70926735 |
| 857 | RIMS1 | 6 | 0.98050797401063 | 99 | 5079 | 72889607-72889608, 72892097, 72892336-72892339, 72892360-72892362, 72892383, 72892597, 72945425, 72945430, 72960624-72960635, 72974689-72974696, 73023309, 73043332-73043343, 73108675, 73108693, 73108715-73108722, 73108740-73108780, 73108796 |
| 858 | MYO6 | 6 | 0.99974079834111 | 1 | 3858 | 76564913 |
| 859 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196848 |
| 860 | BCKDHB | 6 | 0.99745547073791 | 3 | 1179 | 80881007-80881009 |
| 861 | SLC35A1 | 6 | 0.98816568047337 | 12 | 1014 | 88182727, 88210374-88210381, 88210964, 88210968-88210969 |
| 862 | RARS2 | 6 | 0.99481865284974 | 9 | 1737 | 88240637-88240645 |
| 863 | PDSS2 | 6 | 0.9975 | 3 | 1200 | 107780270-107780272 |
| 864 | OSTM1 | 6 | 0.98208955223881 | 18 | 1005 | 108366007-108366015, 108395739, 108395746-108395748, 108395753, 108395759-108395761, 108395828 |
| 865 | FIG4 | 6 | 0.99375917767988 | 17 | 2724 | 110106173-110106181, 110110836-110110843 |
| 866 | WISP3 | 6 | 0.99374441465594 | 7 | 1119 | 112382324-112382327, 112382390-112382391, 112389445 |
| 867 | COL10A1 | 6 | 0.99216837983358 | 16 | 2043 | 116442805-116442814, 116443070, 116446564-116446566, 116446580-116446581 |
| 868 | RSPH4A | 6 | 0.99581589958159 | 9 | 2151 | 116937910-116937915, 116937918, 116949167-116949168 |
| 869 | LAMA2 | 6 | 0.99476663462565 | 49 | 9363 | 129204418-129204420, 129635844-129635864, 129663594-129663602, 129759846-129759857, 129794460-129794463 |
| 870 | ENPP1 | 6 | 0.96652267818575 | 93 | 2778 | 132129193-132129199, 132129208-132129210, 132129213, 132129219, 132129244, 132129260, 132129263-132129264, 132129304-132129305, 132129377, 132172382-132172391, 132203485-132203518, 132203525-132203554 |
| 871 | EYA4 | 6 | 0.99791666666667 | 4 | 1920 | 133769251, 133769277, 133783580, 133844281 |
| 872 | AHI1 | 6 | 0.99025341130604 | 35 | 3591 | 135732525-135732527, 135759581-135759583, 135759589, 135759596-135759599, 135759602-135759603, 135763720-135763734, 135769441-135769447 |
| 873 | PEX7 | 6 | 0.92798353909465 | 70 | 972 | 137143860-137143861, 137143889-137143931, 137167225-137167231, 137167239-137167248, 137167269-137167275, 137191048 |
| 874 | IFNGR1 | 6 | 0.99115646258503 | 13 | 1470 | 137519388-137519397, 137527317-137527319 |
| 875 | PEX3 | 6 | 0.95187165775401 | 54 | 1122 | 143792116-143792156, 143792196-143792208 |
| 876 | STX11 | 6 | 0.96064814814815 | 34 | 864 | 144507814, 144508360-144508384, 144508395-144508402 |
| 877 | EPM2A | 6 | 0.94979919678715 | 50 | 996 | 146056462, 146056465, 146056468, 146056481-146056483, 146056486-146056492, 146056502, 146056508-146056511, 146056516, 146056536, 146056593-146056622 |
| 878 | SYNE1 | 6 | 0.99727210729711 | 72 | 26394 | 152454487-152454496, 152542019-152542028, 152545786, 152545795, 152552697-152552702, 152558052, 152576100, 152576103-152576106, 152631635-152631651, 152655306, 152655309, 152725432-152725442, 152737829-152737832, 152740817-152740818, 152819908, 152832238 |
| 879 | PARK2 | 6 | 0.98354792560801 | 23 | 1398 | 161969947, 161969968-161969969, 161969984-161969994, 161970005-161970010, 161970016, 161970019-161970020 |
| 880 | TBP | 6 | 0.91764705882353 | 84 | 1020 | 170871010-170871013, 170871019, 170871022-170871088, 170871094-170871102, 170871132-170871134 |
| 881 | LFNG | 7 | 0.78245614035088 | 248 | 1140 | 2559496-2559557, 2559565-2559585, 2559588, 2559591-2559612, 2559619-2559628, 2559636, 2559638-2559640, 2559648-2559701, 2559724-2559728, 2559732, 2559742-2559777, 2559791-2559799, 2559805-2559807, 2559827-2559834, 2559877, 2559882-2559889, 2559899-2559901 |
| 882 | PMS2 | 7 | 0.97605252993434 | 62 | 2589 | 6013149-6013156, 6018299, 6022465-6022476, 6026737-6026743, 6027049-6027055, 6029437-6029454, 6029463, 6037054, 6045523-6045529 |
| 883 | TWIST1 | 7 | 0.66338259441708 | 205 | 609 | 19156534, 19156563, 19156645-19156650, 19156661-19156668, 19156683-19156686, 19156690-19156698, 19156704, 19156707-19156711, 19156775-19156944 |
| 884 | DNAH11 | 7 | 0.99668435013263 | 45 | 13572 | 21611451-21611457, 21630919, 21630934, 21698570-21698577, 21730478-21730484, 21788256, 21813613-21813617, 21856244-21856250, 21923972-21923978, 21939668 |
| 885 | FAM126A | 7 | 0.99489144316731 | 8 | 1566 | 23017899-23017906 |
| 886 | DFNA5 | 7 | 0.99396378269618 | 9 | 1491 | 24742429-24742433, 24789390-24789393 |
| 887 | HOXA1 | 7 | 0.99206349206349 | 8 | 1008 | 27135155-27135161, 27135333 |
| 888 | HOXA13 | 7 | 0.70951156812339 | 339 | 1167 | 27238909-27238910, 27239097-27239102, 27239115, 27239201, 27239212, 27239228, 27239252, 27239268, 27239276-27239280, 27239283-27239284, 27239295-27239506, 27239517-27239590, 27239618-27239649 |
| 889 | GARS | 7 | 0.9981981981982 | 4 | 2220 | 30640777-30640780 |
| 890 | GHRHR | 7 | 0.99921383647799 | 1 | 1272 | 31009523 |
| 891 | RP9 | 7 | 0.96546546546547 | 23 | 666 | 33134894-33134912, 33148900, 33148938-33148940 |
| 892 | BBS9 | 7 | 0.99812312312312 | 5 | 2664 | 33303912-33303914, 33303926, 33407422 |
| 893 | GLI3 | 7 | 0.99515074847143 | 23 | 4743 | 42004657, 42005119-42005122, 42005570, 42005584, 42005590, 42005594, 42005627-42005631, 42005634, 42005638, 42005851-42005852, 42005857, 42017173-42017176 |
| 894 | GCK | 7 | 0.98929336188437 | 15 | 1401 | 44186115, 44191875-44191888 |
| 895 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 896 | EGFR | 7 | 0.99119185246353 | 32 | 3633 | 55086984-55086999, 55087006-55087011, 55087018, 55220272-55220279, 55229230 |
| 897 | ASL | 7 | 0.97992831541219 | 28 | 1395 | 65553880, 65554102-65554120, 65554160-65554162, 65557842-65557846 |
| 898 | KCTD7 | 7 | 0.87701149425287 | 107 | 870 | 66094052-66094073, 66094093-66094115, 66094133-66094194 |
| 899 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 900 | NCF1 | 7 | 0.95151515151515 | 40 | 825 | 72640033-72640039, 72643688-72643710, 72644230-72644236, 72645927, 72648744, 72648750 |
| 901 | ELN | 7 | 0.99218390804598 | 17 | 2175 | 73442535-73442545, 73457465, 73466283-73466285, 73466291-73466292 |
| 902 | NCF1 | 7 | 0.92156862745098 | 92 | 1173 | 74193642, 74193668, 74202424, 74202430, 74202917-74202948, 74202989-74203044 |
| 903 | POR | 7 | 0.97944199706314 | 42 | 2043 | 75614213, 75614436-75614476 |
| 904 | HSPB1 | 7 | 0.99029126213592 | 6 | 618 | 75932255, 75932262-75932266 |
| 905 | CD36 | 7 | 0.9908386187456 | 13 | 1419 | 80285988, 80302672-80302683 |
| 906 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81392120 |
| 907 | ABCB4 | 7 | 0.99427083333333 | 22 | 3840 | 87037406-87037416, 87104752-87104762 |
| 908 | AKAP9 | 7 | 0.99198225861481 | 94 | 11724 | 91609609-91609617, 91609638-91609645, 91630244-91630268, 91631405, 91631528, 91632303-91632309, 91671484, 91690578-91690581, 91690592, 91694725-91694728, 91709121-91709125, 91709352-91709354, 91709357-91709361, 91714889, 91714911, 91714917-91714931, 91722471, 91727469-91727470 |
| 909 | KRIT1 | 7 | 0.99004975124378 | 22 | 2211 | 91866984-91866991, 91867044-91867057 |
| 910 | PEX1 | 7 | 0.99974039460021 | 1 | 3852 | 92122375 |
| 911 | COL1A2 | 7 | 0.98463789319678 | 63 | 4101 | 94030922, 94037648-94037662, 94037677-94037692, 94052394-94052400, 94054922-94054927, 94055143, 94058641-94058648, 94058701-94058709 |
| 912 | SGCE | 7 | 0.99778761061947 | 3 | 1356 | 94214814, 94218010, 94228220 |
| 913 | SLC25A13 | 7 | 0.99655342195963 | 7 | 2031 | 95820481-95820487 |
| 914 | TFR2 | 7 | 0.9713216957606 | 69 | 2406 | 100224965, 100228607, 100228610-100228612, 100238626-100238662, 100238678-100238704 |
| 915 | SLC26A5 | 7 | 0.99955257270694 | 1 | 2235 | 103017282 |
| 916 | RELN | 7 | 0.99961453213838 | 4 | 10377 | 103191659, 103244842, 103244893, 103629730 |
| 917 | SLC26A4 | 7 | 0.97695262483995 | 54 | 2343 | 107303797-107303808, 107323647-107323688 |
| 918 | SLC26A3 | 7 | 0.98910675381264 | 25 | 2295 | 107432293, 107432335, 107432342, 107432347-107432350, 107432359-107432363, 107434888-107434899, 107434937 |
| 919 | DLD | 7 | 0.99346405228758 | 10 | 1530 | 107556024-107556028, 107557844-107557848 |
| 920 | IFRD1 | 7 | 0.99926253687316 | 1 | 1356 | 112102183 |
| 921 | CFTR | 7 | 0.96016205266712 | 177 | 4443 | 117188713-117188753, 117188759-117188800, 117188838-117188877, 117232274-117232275, 117235003-117235007, 117235010-117235035, 117235058-117235074, 117235088-117235091 |
| 922 | AASS | 7 | 0.99964041711615 | 1 | 2781 | 121769576 |
| 923 | IMPDH1 | 7 | 0.98 | 36 | 1800 | 128049841-128049858, 128049863, 128049869-128049873, 128049889, 128049900-128049905, 128049911, 128049916-128049919 |
| 924 | FLNC | 7 | 0.993396918562 | 54 | 8178 | 128470699, 128470711-128470717, 128470881-128470882, 128477235, 128477266-128477289, 128477298-128477301, 128482640-128482641, 128489386, 128489455, 128489462-128489465, 128498187-128498193 |
| 925 | ATP6V0A4 | 7 | 0.9678953626635 | 81 | 2523 | 138394371, 138394380-138394436, 138394454-138394460, 138394473-138394475, 138394486-138394493, 138394499-138394502, 138453956 |
| 926 | BRAF | 7 | 0.9800086918731 | 46 | 2301 | 140481429, 140624404-140624414, 140624417-140624420, 140624425-140624430, 140624462-140624481, 140624489-140624492 |
| 927 | PRSS1 | 7 | 0.87365591397849 | 94 | 744 | 142458434-142458454, 142459625-142459629, 142459863-142459878, 142460335, 142460339, 142460366-142460415 |
| 928 | CLCN1 | 7 | 0.99528142905292 | 14 | 2967 | 143017833-143017840, 143042695, 143047480, 143047489-143047492 |
| 929 | CNTNAP2 | 7 | 0.99624624624625 | 15 | 3996 | 145813984-145813988, 145813994-145813999, 145814002, 146741075, 146741121, 146741128 |
| 930 | KCNH2 | 7 | 0.89741379310345 | 357 | 3480 | 150643997, 150644430-150644432, 150644524, 150644575, 150644694-150644758, 150644766-150644784, 150644804, 150644826, 150644937-150644940, 150645545-150645578, 150648876-150648889, 150648900-150648908, 150655184-150655189, 150655505-150655506, 150671829, 150671851-150671859, 150671867-150671946, 150671953-150671954, 150671962-150671964, 150671981, 150671984, 150671987, 150672008-150672029, 150674926-150675001 |
| 931 | PRKAG2 | 7 | 0.99590643274854 | 7 | 1710 | 151265916-151265922 |
| 932 | SHH | 7 | 0.93880489560835 | 85 | 1389 | 155595594, 155595597-155595598, 155595699-155595703, 155595708-155595718, 155595723, 155595778-155595812, 155595834, 155595980, 155595983, 155595986, 155596000-155596004, 155596180-155596189, 155596196-155596197, 155596201-155596202, 155596212-155596218 |
| 933 | MNX1 | 7 | 0.681592039801 | 384 | 1206 | 156798245, 156798260, 156798271, 156798278, 156798380-156798418, 156799198-156799204, 156799258-156799265, 156802532-156802541, 156802591-156802861, 156802873-156802874, 156802889-156802897, 156802902-156802930, 156802936-156802939, 156802960 |
| 934 | CLN8 | 8 | 0.99767711962834 | 2 | 861 | 1719517, 1719557 |
| 935 | GATA4 | 8 | 0.93453724604966 | 87 | 1329 | 11565831, 11565857-11565924, 11566010, 11566191-11566193, 11566227, 11566235, 11566384-11566387, 11566400-11566407 |
| 936 | TUSC3 | 8 | 0.99904489016237 | 1 | 1047 | 15398000 |
| 937 | ASAH1 | 8 | 0.98989898989899 | 12 | 1188 | 17927323-17927330, 17941495-17941498 |
| 938 | NEFL | 8 | 0.98897058823529 | 18 | 1632 | 24813421, 24813658-24813659, 24813665-24813669, 24813680-24813689 |
| 939 | CHRNA2 | 8 | 0.99874213836478 | 2 | 1590 | 27320497, 27320617 |
| 940 | ESCO2 | 8 | 0.98726467331118 | 23 | 1806 | 27634413-27634418, 27634421-27634422, 27634425-27634428, 27650295-27650305 |
| 941 | FGFR1 | 8 | 0.99756394640682 | 6 | 2463 | 38285910-38285915 |
| 942 | ADAM9 | 8 | 0.99268292682927 | 18 | 2460 | 38880708-38880712, 38947634-38947646 |
| 943 | ANK1 | 8 | 0.99508254302775 | 28 | 5694 | 41550174, 41559609, 41566376-41566381, 41581077, 41581097, 41581114, 41583408-41583409, 41753873-41753887 |
| 944 | THAP1 | 8 | 0.99688473520249 | 2 | 642 | 42693215-42693216 |
| 945 | HGSNAT | 8 | 0.9916142557652 | 16 | 1908 | 42995686-42995687, 42995690, 42995698-42995710 |
| 946 | RP1 | 8 | 0.99953639313862 | 3 | 6471 | 55538384-55538386 |
| 947 | CHD7 | 8 | 0.99810985101179 | 17 | 8994 | 61654492, 61734583-61734589, 61734634, 61749473, 61765928-61765934 |
| 948 | TTPA | 8 | 0.99761051373955 | 2 | 837 | 63998579-63998580 |
| 949 | CYP7B1 | 8 | 0.99934253780408 | 1 | 1521 | 65711105 |
| 950 | TMEM70 | 8 | 0.99744572158365 | 2 | 783 | 74888520, 74888712 |
| 951 | PEX2 | 8 | 0.98257080610022 | 16 | 918 | 77895627-77895634, 77896326-77896333 |
| 952 | CNGB3 | 8 | 0.99711934156379 | 7 | 2430 | 87588127-87588133 |
| 953 | NBN | 8 | 0.99779249448124 | 5 | 2265 | 90960091-90960094, 90996774 |
| 954 | DECR1 | 8 | 0.99900793650794 | 1 | 1008 | 91057154 |
| 955 | TMEM67 | 8 | 0.99531459170013 | 14 | 2988 | 94777689, 94777832, 94777836-94777841, 94777864, 94792928-94792929, 94811896, 94827573, 94827589 |
| 956 | GDF6 | 8 | 0.96271929824561 | 51 | 1368 | 97157393, 97157396, 97157426, 97157456, 97157567, 97157624-97157647, 97172899-97172920 |
| 957 | VPS13B | 8 | 0.99408037352009 | 71 | 11994 | 100050712-100050719, 100123356, 100123414-100123419, 100123421-100123428, 100123447-100123449, 100160155-100160158, 100205202, 100286534-100286546, 100568813-100568825, 100733091-100733094, 100831055-100831062, 100847802, 100866238 |
| 958 | DPYS | 8 | 0.99551282051282 | 7 | 1560 | 105479130-105479135, 105479146 |
| 959 | TRPS1 | 8 | 0.9994851994852 | 2 | 3885 | 116599453, 116599456 |
| 960 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126079858 |
| 961 | KCNQ3 | 8 | 0.9721267659412 | 73 | 2619 | 133492562, 133492597-133492598, 133492625-133492650, 133492665-133492672, 133492675-133492681, 133492726-133492747, 133492753, 133492761-133492766 |
| 962 | TG | 8 | 0.99711087035031 | 24 | 8307 | 133883646-133883652, 133900728, 133900735, 133912566-133912567, 134145760-134145772 |
| 963 | NDRG1 | 8 | 0.99746835443038 | 3 | 1185 | 134274316-134274318 |
| 964 | SLURP1 | 8 | 0.99679487179487 | 1 | 312 | 143822604 |
| 965 | CYP11B1 | 8 | 0.95767195767196 | 64 | 1512 | 143957128-143957132, 143958288-143958294, 143958513-143958533, 143958572-143958602 |
| 966 | CYP11B2 | 8 | 0.9457671957672 | 82 | 1512 | 143993946-143993994, 143994078, 143994223-143994225, 143994701-143994705, 143996539, 143996553, 143998608-143998629 |
| 967 | PLEC | 8 | 0.95574528637496 | 622 | 14055 | 144990762, 144990775, 144991615, 144991958, 144991961-144991964, 144991970, 144992049, 144992361, 144992819-144992827, 144993069-144993072, 144993374-144993376, 144993379, 144993452, 144993612, 144993660-144993661, 144993664-144993666, 144993825-144993826, 144993924-144993958, 144993973-144993980, 144994333, 144994360-144994407, 144995054, 144995169, 144995494-144995496, 144995502-144995513, 144995782-144995815, 144995842, 144995852-144995855, 144996230-144996274, 144996347, 144996371-144996374, 144996377, 144996511-144996555, 144996692, 144996695-144996705, 144996751-144996755, 144996761-144996768, 144996772, 144997077-144997115, 144997438-144997461, 144997836-144997841, 144997844-144997847, 144997851-144997856, 144997863-144997873, 144997877, 144997890, 144997893, 144998169, 144998190, 144998561-144998562, 144998872-144998892, 144998900-144998908, 144998932-144998935, 144998949-144998984, 144999230-144999234, 144999240, 144999245-144999255, 144999376-144999420, 144999469-144999470, 144999507, 144999510, 144999524, 144999542, 144999655, 144999684, 144999803-144999808, 145000014-145000021, 145001588, 145001731-145001732, 145003331-145003333, 145003338, 145003351, 145003635, 145004377, 145004389-145004390, 145004400, 145005710-145005716, 145006147-145006148, 145006179-145006180, 145006183, 145006330, 145006625-145006630, 145006639, 145006804-145006809, 145006823, 145007029-145007032, 145008169-145008171, 145008176, 145024839-145024841, 145024851-145024855, 145024866-145024873 |
| 968 | GPT | 8 | 0.90073775989269 | 148 | 1491 | 145730775, 145730790-145730792, 145731269-145731285, 145731309-145731310, 145731399-145731404, 145731417, 145731423, 145731428, 145731471-145731514, 145731695-145731727, 145731781-145731789, 145731884-145731886, 145731904, 145731909, 145731912-145731924, 145732021-145732026, 145732030, 145732324, 145732370-145732373 |
| 969 | RECQL4 | 8 | 0.9933829611249 | 24 | 3627 | 145737068, 145737075, 145738727, 145738738, 145739096, 145741528-145741534, 145742836, 145743096, 145743102-145743103, 145743107, 145743111, 145743119, 145743164-145743168 |
| 970 | DOCK8 | 9 | 0.99825396825397 | 11 | 6300 | 382641, 452022, 452031-452039 |
| 971 | VLDLR | 9 | 0.97520976353928 | 65 | 2622 | 2622196-2622240, 2622248-2622254, 2647511-2647523 |
| 972 | KCNV2 | 9 | 0.90720390720391 | 152 | 1638 | 2717994-2717996, 2718003-2718006, 2718009-2718013, 2718020, 2718027, 2718306-2718340, 2718402, 2718506, 2718599-2718601, 2718627, 2718696-2718704, 2718726-2718767, 2718907, 2718930-2718971, 2718984, 2718991-2718992 |
| 973 | GLIS3 | 9 | 0.99140708915145 | 24 | 2793 | 3856041-3856049, 4117855, 4117943, 4118031-4118034, 4118105-4118109, 4118111, 4118205, 4118208, 4118392 |
| 974 | JAK2 | 9 | 0.99676375404531 | 11 | 3399 | 5077502-5077504, 5077508, 5077517-5077523 |
| 975 | GLDC | 9 | 0.99281749918381 | 22 | 3063 | 6645353-6645355, 6645360-6645369, 6645380-6645385, 6645388-6645390 |
| 976 | APTX | 9 | 0.9980563654033 | 2 | 1029 | 32973517, 32973553 |
| 977 | TPM2 | 9 | 0.9953216374269 | 4 | 855 | 35685668-35685671 |
| 978 | NPR2 | 9 | 0.99586513994911 | 13 | 3144 | 35792423, 35792530, 35792535-35792536, 35792545, 35792560, 35802272-35802278 |
| 979 | GNE | 9 | 0.99955791335102 | 1 | 2262 | 36217475 |
| 980 | TMC1 | 9 | 0.99299167761717 | 16 | 2283 | 75303648-75303649, 75403258-75403270, 75420381 |
| 981 | VPS13A | 9 | 0.98813648293963 | 113 | 9525 | 79820898, 79820976, 79820979, 79843053, 79853277-79853284, 79896787, 79896839-79896842, 79898520, 79908293, 79908404-79908424, 79931175, 79934507-79934542, 79954723-79954730, 79955174, 79959079-79959085, 79972608-79972616, 79972688-79972697, 79982977 |
| 982 | AUH | 9 | 0.99705882352941 | 3 | 1020 | 94087664, 94124035, 94124045 |
| 983 | ROR2 | 9 | 0.98940677966102 | 30 | 2832 | 94486206-94486212, 94486763-94486769, 94493271, 94493274-94493277, 94495579, 94495608, 94495611-94495612, 94495621, 94499694, 94499698-94499700, 94712208-94712209 |
| 984 | SPTLC1 | 9 | 0.98945147679325 | 15 | 1422 | 94809536-94809550 |
| 985 | PTCH1 | 9 | 0.98872007366483 | 49 | 4344 | 98209630, 98211407-98211447, 98220565, 98270510, 98270528, 98270531, 98270571, 98270589, 98270643 |
| 986 | FOXE1 | 9 | 0.88146167557932 | 133 | 1122 | 100616268, 100616297-100616333, 100616337-100616339, 100616341-100616348, 100616399, 100616402, 100616544-100616545, 100616696-100616737, 100616745-100616753, 100617060, 100617080-100617093, 100617112-100617116, 100617120, 100617140-100617146, 100617186 |
| 987 | TGFBR1 | 9 | 0.97156084656085 | 43 | 1512 | 101867507, 101867538-101867574, 101867578-101867582 |
| 988 | ALG2 | 9 | 0.99840127897682 | 2 | 1251 | 101980791, 101984073 |
| 989 | INVS | 9 | 0.99624765478424 | 12 | 3198 | 102866864, 102992006-102992007, 103046741, 103055192-103055199 |
| 990 | FKTN | 9 | 0.99422799422799 | 8 | 1386 | 108370180-108370186, 108380240 |
| 991 | IKBKAP | 9 | 0.99849962490623 | 6 | 3999 | 111656302-111656304, 111659267-111659269 |
| 992 | MUSK | 9 | 0.99693486590038 | 8 | 2610 | 113547842, 113547857-113547863 |
| 993 | DFNB31 | 9 | 0.97136563876652 | 78 | 2724 | 117185673-117185684, 117266932-117266956, 117266965, 117266991-117267028, 117267061, 117267072 |
| 994 | CDK5RAP2 | 9 | 0.99665610700458 | 19 | 5682 | 123199643-123199647, 123280767-123280776, 123301330-123301333 |
| 995 | GSN | 9 | 0.99957428693061 | 1 | 2349 | 124062200 |
| 996 | NR5A1 | 9 | 0.98268398268398 | 24 | 1386 | 127245145, 127245162, 127245167, 127245172-127245173, 127253473, 127255405-127255409, 127262780-127262782, 127265412, 127265428, 127265619-127265626 |
| 997 | LMX1B | 9 | 0.98927613941019 | 12 | 1119 | 129455563, 129455567, 129455573-129455576, 129456070, 129458168-129458172 |
| 998 | STXBP1 | 9 | 0.99006622516556 | 18 | 1812 | 130374683-130374696, 130415998-130415999, 130416010, 130446722 |
| 999 | ENG | 9 | 0.98988366211431 | 20 | 1977 | 130580537-130580540, 130580551-130580553, 130588025, 130605470-130605479, 130616598-130616599 |
| 1000 | DOLK | 9 | 0.99876314162028 | 2 | 1617 | 131709016, 131709441 |
| 1001 | TOR1A | 9 | 0.98898898898899 | 11 | 999 | 132576436-132576446 |
| 1002 | ASS1 | 9 | 0.99919289749798 | 1 | 1239 | 133355107 |
| 1003 | POMT1 | 9 | 0.99678604224059 | 7 | 2178 | 134379708-134379714 |
| 1004 | SETX | 9 | 0.99713716704008 | 23 | 8034 | 135139874-135139877, 135140230-135140236, 135150658-135150664, 135164022, 135205127-135205130 |
| 1005 | TSC1 | 9 | 0.99799713876967 | 7 | 3495 | 135771869-135771871, 135771885, 135771988-135771990 |
| 1006 | CEL | 9 | 0.80449141347424 | 444 | 2271 | 135937446-135937452, 135940565, 135944192-135944198, 135944521-135944528, 135944583-135944589, 135945994-135946018, 135946487, 135946533-135946551, 135946633-135946668, 135946671-135946674, 135946676, 135946687-135947006, 135947047-135947052, 135947063-135947064 |
| 1007 | SURF1 | 9 | 0.96456256921373 | 32 | 903 | 136223151-136223161, 136223276-136223280, 136223283-136223289, 136223297-136223299, 136223314-136223317, 136223328-136223329 |
| 1008 | ADAMTS13 | 9 | 0.96358543417367 | 156 | 4284 | 136293768-136293809, 136293820-136293891, 136295069-136295074, 136295077, 136295082-136295085, 136295089, 136295109-136295114, 136301952-136301956, 136302027-136302031, 136302053, 136302060-136302063, 136310020-136310028 |
| 1009 | DBH | 9 | 0.99946062567422 | 1 | 1854 | 136516767 |
| 1010 | SARDH | 9 | 0.99056945955749 | 26 | 2757 | 136555503-136555510, 136568113, 136597567-136597575, 136599274-136599281 |
| 1011 | COL5A1 | 9 | 0.98568062352728 | 79 | 5517 | 137534055-137534057, 137534063-137534068, 137534078-137534129, 137534134, 137534137-137534142, 137623926-137623933, 137696839, 137710545-137710546 |
| 1012 | LHX3 | 9 | 0.88833746898263 | 135 | 1209 | 139089298, 139089454, 139089457, 139090782-139090789, 139090795-139090804, 139090810-139090818, 139090840-139090842, 139090847, 139090859-139090905, 139094798, 139094812-139094847, 139094851, 139094854-139094862, 139094870-139094876 |
| 1013 | INPP5E | 9 | 0.96330749354005 | 71 | 1935 | 139326301-139326312, 139326317-139326327, 139326962-139326969, 139333155-139333160, 139333182, 139333295-139333300, 139333305-139333310, 139333317-139333321, 139333331, 139333334-139333339, 139333487-139333488, 139333504, 139333531, 139333743-139333746, 139333771 |
| 1014 | NOTCH1 | 9 | 0.98643714136672 | 104 | 7668 | 139390576-139390581, 139390880-139390905, 139390928-139390934, 139391477, 139391535-139391541, 139391659-139391664, 139391783-139391784, 139391806, 139391819-139391820, 139391849-139391853, 139391908, 139391950-139391962, 139399266, 139399418, 139403368, 139407483, 139411802-139411809, 139413991-139413997, 139440217, 139440220-139440223, 139440231, 139440234-139440235 |
| 1015 | AGPAT2 | 9 | 0.94026284348865 | 50 | 837 | 139571951, 139581705-139581719, 139581730-139581731, 139581742-139581746, 139581749-139581750, 139581776, 139581778-139581785, 139581794-139581809 |
| 1016 | SLC34A3 | 9 | 0.94555555555556 | 98 | 1800 | 140127472, 140127714, 140127718, 140127725, 140127742-140127744, 140127759, 140127799-140127800, 140128151, 140128317-140128323, 140128329-140128333, 140128339-140128349, 140128566-140128583, 140128602-140128634, 140128921, 140129090-140129097, 140130727, 140130750, 140130772, 140130800 |
| 1017 | EHMT1 | 9 | 0.98870926353605 | 44 | 3897 | 140513501, 140605446-140605450, 140605454-140605473, 140638500-140638507, 140706042-140706048, 140729310-140729312 |
| 1018 | SHOX | X | 0.99431171786121 | 5 | 879 | 595521-595525 |
| 1019 | KAL1 | X | 0.99559471365639 | 9 | 2043 | 8699935, 8699938-8699939, 8699999-8700003, 8700026 |
| 1020 | GPR143 | X | 0.99843137254902 | 2 | 1275 | 9733687, 9733690 |
| 1021 | SMS | X | 0.95821980018165 | 46 | 1101 | 21958946-21958991 |
| 1022 | ARX | X | 0.92184724689165 | 132 | 1689 | 25025308, 25031284-25031287, 25031325-25031329, 25031332-25031333, 25031439-25031478, 25031483-25031485, 25031494, 25031656-25031704, 25031712, 25031771-25031774, 25031779, 25031784-25031804 |
| 1023 | RPGR | X | 0.94160161896502 | 202 | 3459 | 38145167-38145178, 38145334-38145377, 38145445-38145540, 38145553-38145565, 38145583-38145595, 38145598-38145602, 38145605, 38145608-38145610, 38145631-38145645 |
| 1024 | NYX | X | 0.92185338865837 | 113 | 1446 | 41333037-41333039, 41333051-41333053, 41333063-41333068, 41333151-41333178, 41333227, 41333231-41333242, 41333248-41333257, 41333266-41333273, 41333298-41333301, 41333321, 41333370, 41333373, 41333464-41333467, 41333478-41333498, 41333510-41333517, 41333573-41333574 |
| 1025 | SYN1 | X | 0.99669499527856 | 7 | 2118 | 47433899-47433901, 47478805-47478808 |
| 1026 | CFP | X | 0.99787234042553 | 3 | 1410 | 47488981-47488983 |
| 1027 | WAS | X | 0.99005964214712 | 15 | 1509 | 48547062-48547065, 48547213-48547223 |
| 1028 | FGD1 | X | 0.998613998614 | 4 | 2886 | 54494253-54494256 |
| 1029 | AR | X | 0.97611292073833 | 66 | 2763 | 66765146-66765161, 66765183-66765194, 66765199-66765208, 66765212-66765219, 66765222, 66765226, 66766368, 66766376-66766392 |
| 1030 | DLG3 | X | 0.99877750611247 | 3 | 2454 | 69665277-69665279 |
| 1031 | MED12 | X | 0.99127640036731 | 57 | 6534 | 70338605-70338618, 70338628-70338633, 70338655-70338660, 70338673-70338676, 70360617, 70360623, 70360626-70360634, 70360638-70360645, 70361101, 70361112-70361118 |
| 1032 | TAF1 | X | 0.9857444561774 | 81 | 5682 | 70586165-70586227, 70586238-70586243, 70586259-70586260, 70586296-70586301, 70586317-70586319, 70586328 |
| 1033 | SLC16A2 | X | 0.98968512486428 | 19 | 1842 | 73641389-73641394, 73641418-73641423, 73641436-73641442 |
| 1034 | BRWD3 | X | 0.9987058606027 | 7 | 5409 | 80064942-80064946, 80064969-80064970 |
| 1035 | PCDH19 | X | 0.99697519661222 | 10 | 3306 | 99663416-99663420, 99663574-99663578 |
| 1036 | ZIC3 | X | 0.96866096866097 | 44 | 1404 | 136648985-136648987, 136651066-136651070, 136651093-136651098, 136651108-136651131, 136651203-136651208 |
| 1037 | SOX3 | X | 0.97091722595078 | 39 | 1341 | 139585957-139585958, 139586133-139586142, 139586149, 139586166-139586170, 139586470-139586485, 139586503, 139586509-139586512 |
| 1038 | SLC6A8 | X | 0.93238993710692 | 129 | 1908 | 152954045, 152954112-152954231, 152954242-152954248, 152954253 |
| 1039 | ABCD1 | X | 0.99195710455764 | 18 | 2238 | 153008473-153008486, 153008675-153008678 |
| 1040 | L1CAM | X | 0.99947005829359 | 2 | 3774 | 153129443, 153141265 |
| 1041 | MECP2 | X | 0.98263193052772 | 26 | 1497 | 153363072-153363081, 153363087-153363098, 153363107-153363109, 153363122 |
| 1042 | FLNA | X | 0.99937059415911 | 5 | 7944 | 153588185-153588189 |
| 1043 | G6PD | X | 0.9957264957265 | 7 | 1638 | 153775068-153775074 |
| 1044 | USP9Y | Y | 0.99439227960355 | 43 | 7668 | 14898605-14898647 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | LMNB2-R215Q | het unknown | 0.011 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.666 (possibly damaging) |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-V7L | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | MYH9-R1466W | het unknown | 0.004 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-V410I | het unknown | 0.047 | Dominant protective | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-L522I | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-S225I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | SP110-A206V | homozygous | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ACY1-R393H | het unknown | 0.004 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 2 | RTN4R-R119W | het unknown | 0.000 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 2 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-R102G | het unknown | 0.152 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | IL7R-T244I | homozygous | 0.210 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CYP2C9-R144C | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 2 | KCNJ11-V337I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | MEFV-R202Q | homozygous | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T3826M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | APOB-I2313V | het unknown | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | MATN3-T303M | het unknown | 0.011 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | PRNP-M129V | het unknown | 0.340 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | AP1S2-T35A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | NR_027336-P160L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-V73F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-W23* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ARSA-R496H | het unknown | 0.055 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ARSA-T391S | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ARSA-N350S | het unknown | 0.183 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | PLXNA3-R350Q | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.604 (possibly damaging) |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CPNE1-P535L | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 1 | CPNE1-A402Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CPNE1-P347R | homozygous | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 1 | CPNE1-Q211R | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CACNA1F-R1930H | homozygous | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEBOX-L207S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027242-N339Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-R141W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SIX5-P635S | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WFS1-R456H | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | WFS1-R611H | het unknown | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | BACH1-G471A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HPS1-Q604R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HPS1-P491R | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | CHM-S89C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NSD1-V614L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-A691T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-S726P | homozygous | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-A1036P | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-M2250I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-M2261T | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | TYR-R402Q | het unknown | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CACNA1A-G1104S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ARMS2-A69S | het unknown | 0.207 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | OPN1LW-L153M | homozygous | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-S180A | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TMPO-Q599E | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GSTM1-K173N | homozygous | 0.264 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PKP2-L366P | het unknown | 0.221 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKP2-S70I | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NR_015394-G45W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-F74S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-T113Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DMD-K2366Q | homozygous | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DMD-R2155W | homozygous | 0.027 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DMD-R1745H | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SPTLC1-R151L | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DPYD-I543V | homozygous | 0.185 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TOR1A-D216H | het unknown | 0.103 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CCDC66-D5Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | homozygous | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | MTRR-S284T | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MTRR-K377R | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MTRR-R442C | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MTRR-P477R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MTRR-H622Y | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PINK1-A340T | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | RGPD4-D761G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | NR_027444-W159Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MYO5C-R172C | homozygous | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-D107H | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | P2RY4-P352T | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 1 | P2RY4-I247V | homozygous | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 1 | P2RY4-N178T | homozygous | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | WNK1-A141T | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WNK1-E1923Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | CACNA1S-L458H | homozygous | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CACNA1S-M1V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | DSP-I305F | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | USH2A-R5031W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | USH2A-P3893T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | USH2A-E3411A | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-D3144N | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-N3099S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-R2875Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-R2292H | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-E2238A | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2169T | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2106T | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RETNLB-L14Shift | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PPOX-R304H | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FANCB-G335E | homozygous | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF204P-K6Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.75 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CHRNA5-D398N | het unknown | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.75 | BLMH-I443V | het unknown | 0.285 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ADD1-G460W | het unknown | 0.157 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-G1166S | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-I395T | het unknown | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q28H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | DNAI2-G340Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | COL1A1-P1054Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | NPC1-W1122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | NPC1-M642I | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLFN14-Y770F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | SLFN14-K385E | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLFN14-P356S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCAKD-R105W | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | KRT10-G126S | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT10-I101S | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSR1-H750Q | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TSR1-D647E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | ABCC1-L57V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCC1-G671V | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG7-T605M | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RNF151-H130Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PKD1-A4059V | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-I4045V | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-A3512V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | XIAP-Q423P | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-P380A | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYBBP1A-F35L | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MYBBP1A-Q8E | homozygous | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX33-R621C | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DHX33-H483D | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GALNS-A393S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests |
| 0.5 | CYBA-Y72H | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HYDIN-E4159Q | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K4087R | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A4025T | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-V3898M | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-R3480W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T3115R | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2529E | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-K2413E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-E2305G | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-M15T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | DHODH-K7Q | homozygous | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | DHODH-A341V | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LRRC50-N139S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LRRC50-K393R | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | homozygous | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TAF1C-G541S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TAF1C-L481M | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAF1C-C24Y | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDH19-G645A | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CDH19-N527Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SCN4A-N1376D | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-V781I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEG3-R1576H | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | PEG3-E1362Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LPIN1-V494M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | OTOF-F303L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GCKR-L446P | homozygous | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNNT1-E12G | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHDH-S66N | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC114-R46W | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PPP1R15A-A32T | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | FAM83E-P311L | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FAM83E-G244S | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FAM83E-T91A | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALK-D1529E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-V432L | het unknown | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119S | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-R48G | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CKAP2L-R695Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.787 (possibly damaging) |
| 0.5 | CKAP2L-L614S | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CKAP2L-I375V | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.071 (benign) |
| 0.5 | CKAP2L-A374Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CKAP2L-K371Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TNFAIP6-Q144R | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNFAIP6-*278Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DL492456-R148H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-W104* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | C2orf49-V115Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C2orf49-K117Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_003131-M159V | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_003131-D87Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_003131-R64C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NR_003131-Q17Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MOGS-V62M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S669T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-R102K | homozygous | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-S78T | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO5B-M1688V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB40B-P263R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SGSH-R456H | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA9-K1306T | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ABCA9-N785S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ABCA9-R353H | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TSEN54-K347N | homozygous | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACOX1-I312M | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADNP2-T86A | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.615 (possibly damaging) |
| 0.5 | ADNP2-G986E | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | THEG-R202I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MAN2B1-N413S | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RFXANK-E48D | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RYR1-G2060C | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RYR1-S2617L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FAM187B-W231* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM187B-V216I | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM187B-W188* | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FAM187B-C160R | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LDLR-A391T | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OR7E24-I64V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OR7E24-P242S | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRTN3-R249H | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | GRIN3B-R404W | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | GRIN3B-W414R | homozygous | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-T577M | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-Y966N | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-Q1006E | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFAF1-E176K | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging) |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-L869F | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | het unknown | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDST2-M375V | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CC2D2B-Q401L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PDE6C-S270T | homozygous | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC29A3-S158F | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDH15-P1794S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-R934Q | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-D440A | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D590Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NRP1-F561L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NRP1-V179A | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PPYR1-R240C | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.192 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | COL17A1-D1370G | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAG2-F386L | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-D308H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | RAG1-R449K | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CCDC34-N298S | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | CCDC34-E264A | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | CCDC34-P53S | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.508 (possibly damaging) |
| 0.5 | IFITM3-H3Q | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.804 (possibly damaging) |
| 0.5 | NRAP-R1566C | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | NRAP-L1531P | homozygous | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | NRAP-I1183V | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-S490L | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.092 (benign) |
| 0.5 | NRAP-Q360R | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-A344T | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-Y249C | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NRAP-V208A | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | H19-G355R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-T25M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZDHHC13-K99R | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZDHHC13-Y392C | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OR2G6-I158M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OR2G6-M258L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | OR2G6-K295Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | EPS15-I822M | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPS15-E583Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | EPS15-T582Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FAM151A-A416V | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM151A-P335Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CTH-S403I | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYDE2-V1157I | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-V569I | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYDE2-S422L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GJB4-C169W | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | MASP2-D371Y | homozygous | 0.623 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MASP2-D120G | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-R83G | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-A447T | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-R27L | homozygous | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-I419V | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPL-V522A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CASQ2-T66A | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CR1L-R97C | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | CR1L-R116G | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-I139V | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.089 (benign) |
| 0.5 | CR1L-C207Y | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CR1L-G263V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CR1L-R410C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CR1L-I455V | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-L491P | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
| 0.5 | CR1L-V500I | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNPAT-D519G | homozygous | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.5 | PHLDA3-R28Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | HMCN1-T1056A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-M2327I | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-H4084Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HMCN1-Q4437R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-A4720T | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HMCN1-D5087V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ZNF687-G259E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | SPAG17-T1590N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPAG17-R143Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FLG-R3738H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-V3179G | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-D2936G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G2545R | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2507Q | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L2481S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-K2444E | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2398Q | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2366T | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2119H | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A2108V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2020A | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H1961Q | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-W1947G | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L1943H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1891Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1699C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1684H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1376G | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1360H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1167G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E755K | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-P478S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-T454A | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G444R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G332V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LHX4-N328S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FMO3-E158K | homozygous | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIP-Q228K | homozygous | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLH3-P844L | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSHR-P52T | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-D248N | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-A21P | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SERPINA1-E400D | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SERPINA1-R125H | homozygous | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SERPINA10-G271S | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign) |
| 0.5 | SERPINA10-R88* | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SERPINA10-K46R | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | FAM71D-T197Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | UTP14C-G85V | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UTP14C-R319H | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ATP7B-V1140A | homozygous | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_028064-V144I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R342W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-A6671Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | SYNE2-A6671T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SYNE2-R6720W | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COCH-T352S | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TJP1-I790V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | TRPM1-V1395I | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-S32N | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC24A1-L313V | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WHAMM-N212S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | WHAMM-H736P | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | ETFA-T171I | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | CCPG1-Y235C | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CYP19A1-T201M | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CEP152-L914V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-M21V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SGCG-R116H | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ST14-R85H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | B4GALNT3-G59S | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | B4GALNT3-K411R | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging) |
| 0.5 | B4GALNT3-R992H | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ACSM4-Q357* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ANKK1-G318R | homozygous | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | ANKK1-H367Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ANKK1-G442R | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANKK1-H490R | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DLAT-A43V | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-V318A | homozygous | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-D451N | homozygous | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FZD4-P168S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.186 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FZD4-P33S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-I275V | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-R694W | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BIRC2-A506V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.292 (possibly damaging) |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG9-V289I | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EXPH5-N1967D | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXPH5-L853P | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXPH5-S676N | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXPH5-V525F | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EXPH5-H523R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EXPH5-R328Q | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EXPH5-R19G | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CAPZA3-R39H | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.901 (probably damaging) |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT4-Q230R | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT4-A146V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DCD-D71N | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLEKHG7-D99G | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PLEKHG7-M212T | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | HPD-H218Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT1-K633R | homozygous | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF21A-G614V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LARP4-F351L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ADCY6-R138H | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FPR1-E346A | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T372M | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | ZNF354C-Y524C | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | ZNF354C-F546L | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF354C-E553K | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TBC1D9B-K1119T | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TBC1D9B-E819K | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.943 (probably damaging) |
| 0.5 | ZNF192-G296S | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FLT4-R1146H | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-N149D | het unknown | 0.073 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.358 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT2-P4117L | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-M3631I | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | FAT2-L3514S | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-A2907T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAT2-F2428S | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-G1515S | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-V1462M | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-Y1181H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-P1164L | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | FAT2-G1004S | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-F686S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-R574C | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | FAT2-P248S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | YIPF5-A76V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SPINK5-Q267R | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-E825D | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | GM2A-I59V | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-Q61R | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EFHC1-R151C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EFHC1-R159W | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.5 | LCA5-D26A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRIM2-E181K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-D204G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-S259G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-L286P | het unknown | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-Y287C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-H289R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-N298Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PRIM2-C302R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-G304* | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PRIM2-T323A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-Q325* | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PRIM2-D342G | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-Y345C | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-R349C | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-G434D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-H445Q | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRIM2-S464P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX6-A809V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TNXB-V3186I | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R1255H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F41S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M99L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A6S | homozygous | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRERF1-D1187N | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MOCS1-R452L | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MOCS1-P390H | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDHB16-R202Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-T482I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PCDHB16-R525Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB16-E526A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB16-S532G | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDHB16-Q638H | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R652C | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | PCDHB16-A710V | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PCDHB7-V389L | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB7-S568G | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PCDHB7-V689L | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.674 (possibly damaging) |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPK1-T458A | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ALPK1-H642R | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-S710F | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | ALPK1-M861T | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEUROG2-G176Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DCHS2-H2633Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DCHS2-K2475R | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DCHS2-E1595Q | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-N897S | het unknown | 0.891 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | DCHS2-S344L | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCHS2-H174R | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.317 (possibly damaging) |
| 0.5 | DCHS2-V153A | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.227 (possibly damaging) |
| 0.5 | FAT4-Q453L | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | FAT4-A807V | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.799 (possibly damaging) |
| 0.5 | FAT4-Q1257E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | FAT4-G3524D | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FAT4-S3800F | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.753 (possibly damaging) |
| 0.5 | FAT4-S3873N | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MANBA-T701M | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | UGT2B7-Y268H | homozygous | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BMP2K-A58D | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BMP2K-T1002S | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.022 (benign) |
| 0.5 | SLC10A6-I114V | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | SLC10A6-S6F | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCG2-V12M | het unknown | 0.045 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NEIL3-P117R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NEIL3-P443L | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-Q471H | het unknown | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-G520R | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FBN2-S2580L | het unknown | 0.078 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-V965I | homozygous | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-A68V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-G2502S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | WDR36-I264V | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | homozygous | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LNPEP-V359I | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | ERAP2-L669Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | REV3L-R1970H | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | REV3L-T1224I | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAAR2-W168* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation |
| 0.5 | VPS13B-V2559A | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCRIB-H1217P | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | SCRIB-V674E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SCRIB-P422L | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | AK094577-C82Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | RECQL4-R1005Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-E71G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CNGB3-E755G | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEX15-S1990N | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TEX15-L1337V | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TEX15-N1311S | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TEX15-I1035V | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TEX15-C104R | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RP1-N985Y | homozygous | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | SDR16C6-T318P | homozygous | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SDR16C6-S221T | homozygous | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SDR16C6-L63* | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZFHX4-V66L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZFHX4-I2036V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.077 (benign) |
| 0.5 | ZFHX4-V3033G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ZFHX4-P3127Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TOX-N122S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | AK300656-R11* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH1-K1628E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NOTCH1-R1279H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EXD3-R653C | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | EXD3-C545Y | het unknown | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R220Q | homozygous | 0.890 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-A160T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R20Q | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD99-M166V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.194 (benign) |
| 0.5 | CD99-N173I | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS13-R7W | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAMTS13-Q448E | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADAMTS13-A1033T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ABO-P353Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABO-S74P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-H63R | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABO-F36V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IKBKAP-P1158L | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-C1072S | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-E1071D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | IKBKAP-I830M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-I816L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-G765E | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DFNB31-N796K | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I2587V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-D411E | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HR-Q528R | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | NAT2-I114T | homozygous | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH11-I192M | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T400I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A568T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Y2593H | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | homozygous | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-R43K | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CRHR2-V240I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CRHR2-E220D | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA0415-L375Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | AKAP12-K117E | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-K216Q | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP12-S887C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | AKAP12-E1531EE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKAP12-E1600D | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SYNE1-G8323A | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-A8168S | homozygous | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | het unknown | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TIAM2-R332H | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TIAM2-R973W | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.959 (probably damaging) |
| 0.5 | TIAM2-S1089P | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-P122S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | FNDC1-T1574A | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | VWC2-P148L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GIMAP2-V74F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | NOS3-D298E | homozygous | 0.749 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NUB1-K4N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.88 (probably damaging) |
| 0.5 | NR_002144-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ELN-G422S | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POR-A503V | het unknown | 0.234 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCB1-S400N | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EIF2B5-I587V | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HTT-Y2309H | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.216 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | COL18A1-PGP1362Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | COL18A1-PGP1362Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ALG1L2-S17P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ALG1L2-L157Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5L-S265C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | LCA5L-G17S | homozygous | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TF-G277S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TF-I448V | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR49-G602Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | WDR49-P599Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SDF2L1-R161H | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.5 | SATB1-P634* | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | GLB1-C521R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLB1-R109W | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLB1-P10L | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SNRK-P391S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | IL17RD-P566S | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | IL17RD-T255M | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.077 (benign) |
| 0.5 | HACL1-I151F | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | XPC-Q939K | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TMEM43-K168N | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM43-M179T | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CBR3-C4Y | homozygous | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-I1409V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CXCR1-R335C | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CXCR1-M31R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CCDC50-L121F | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CCDC50-I258N | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC50-K303R | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC50-M332T | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NM_001037335-P2205H | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NM_001037335-R1381K | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | NM_001037335-E1102Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NM_001037335-S788N | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001037335-S338L | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATRX-Q929E | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V444A | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE11A-S921SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE11A-R804H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PDE11A-R184Q | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTN-R31515W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-V30790I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-S29107G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I23846T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T23304A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-N23184S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-Y22998H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K15140I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-H11456R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-Q7298H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A7111E | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R3598K | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | het unknown | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S2831N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-M2610I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A1827S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-R1572Q | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-A698T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANKZF1-R585Q | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | E2F1-G200S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL4A4-S1400P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PIGU-G333E | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | GDF5-S276A | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-I267V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests |
| 0.5 | SALL4-L507R | homozygous | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF341-P185S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | PANK2-G126A | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SDCBP2-R191Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SDCBP2-V182M | het unknown | 0.463 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FERMT1-R526K | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NINL-R1276C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | NINL-WE958Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.375 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | SRA1-Q32E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FMO2-D71DD | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.375 | FMO2-F81S | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | FMO2-V113Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.375 | FMO2-F182S | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | FMO2-N413K | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | MUT-I671V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MUT-R532H | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MUT-M375I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | SPG11-R1772H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-Q1245K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FANCA-G809D | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-G501S | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | TK2-R74W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | COX10-R159Q | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | COX10-R431W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GATA4-S377G | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | MYO3A-R319H | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-I348V | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-V369I | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-S956N | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-T1284S | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | MYO3A-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-V72M | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NLRP7-A481T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | COL6A3-T3069I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYOM2-Q18* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MYOM2-A33E | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MYOM2-T776M | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYOM2-N869S | het unknown | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYOM2-V1168A | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-A373S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TPO-T725P | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-V847A | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RYR2-Q2958R | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM81-F100S | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.25 | TMEM81-R77Q | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | AIPL1-D90H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF207-N573S | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF207-G603A | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | GPR56-S281R | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-R1230P | het unknown | 0.070 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-G399D | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-T138N | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MPDU1-A229T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIB3-Q84R | het unknown | 0.156 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CALHM1-L86P | het unknown | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCD-M224L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TMEM160-G120S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | MYH11-A1241T | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCN2-T668S | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GLI3-P998L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB4-R652G | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTTP-Q95H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MTTP-I128T | homozygous | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTTP-H297Q | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIRPD-L188Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SIRPD-N55D | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOD2-P268S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C10orf11-L5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C10orf11-S153F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLCE1-R1575P | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP3A7-R409T | het unknown | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ASPM-Y2494H | het unknown | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A4-I306T | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC22A4-L503F | het unknown | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | STIL-H985R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FER1L5-T682A | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FER1L5-R1604Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPT2-M647V | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL17C-R150L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IL17C-L151Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FKTN-R203Q | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGCX-R325Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | CPN2-V536M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.25 | CPN2-Q509R | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-A305T | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TNFRSF1B-M196R | het unknown | 0.232 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.25 | LRP2-I4210L | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-N83S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | DOK7-G461D | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSPG2-R3141C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | HSPG2-A1503V | homozygous | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SULT1C4-D5E | het unknown | 0.429 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OTOP1-E445* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | OTOP1-V145I | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CDA-K27Q | het unknown | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BAAT-R201P | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BAAT-R20Q | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TMEM67-I604V | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPO-M85I | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.25 | CPO-S134R | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PKD1L2-M2313I | homozygous | 0.921 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L2117I | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2048S | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q2035R | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N1330D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PKD1L2-N1330D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PKD1L2-T1048A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q999H | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R998C | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N236Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | PKD1L2-E221G | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q220* | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-V183I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G129D | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | het unknown | 0.577 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | het unknown | 0.634 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNASEL-D541E | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | OPA1-S158N | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLEC-S2791P | het unknown | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLEC-A2194V | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLEC-H1459R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLEC-A641V | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DBT-S384G | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WNK2-P1501Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WNK2-V2107I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATP6V1B1-T30I | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | NOTCH2-C19W | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPT-H14N | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C2orf73-K41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C2orf73-P254L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | ATP4A-Y924Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP4A-V265A | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SACS-V3369A | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | F12-A207P | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SHANK3-I245T | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FGFR4-P136L | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | B3GALTL-E370K | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCD2-N405S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MSX2-M129T | het unknown | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC25A15-I254L | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PNPLA3-G115C | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.196 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT5-G543S | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-S528G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | F13A1-E652Q | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC1-V460I | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSC1-R89Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EP300-I997V | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | CLN5-K368R | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IRS2-G1057D | het unknown | 0.233 | Unknown protective | Low clinical importance, uncertain | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). |
| 0.25 | MCC-K380R | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MCC-K241Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TTC21A-V406Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TTC21A-R1317K | homozygous | 0.531 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR_024334-G98S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024334-R85Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_024334-E64K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCR2-V64I | het unknown | 0.114 | Unknown protective | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | HSD17B4-R106H | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | MYH15-R454Q | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AXIN2-P50S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MAPT-Q230R | het unknown | 0.042 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-Y441H | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX6-H141N | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-K192E | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-E1033Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-P1139R | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA2B-I874S | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ACIN1-S1327Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ACIN1-A447P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-S75R | het unknown | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SH3TC2-A468S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GATM-Q110H | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAX-D44E | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LIFR-V785I | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.033 (benign), Testable gene in GeneTests |
| 0.25 | LIFR-R302C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SLC19A1-H27R | het unknown | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | ALG8-N222S | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L16S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A16-H49R | het unknown | 0.271 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AIM1-E1196A | het unknown | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.25 | LMAN1-M410L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | LMAN1-R14Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.058 (benign), Testable gene in GeneTests |
| 0.25 | COL9A1-Q621R | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-R850H | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TYK2-V362F | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TYK2-A53T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-L201S | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-G175D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRRC48-K69E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC7A9-L223M | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KCNQ2-N780T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PARK2-V380L | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPTE-K386E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TPTE-R229* | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | TPTE-R222Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TPTE-R198* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TPTE-R195Q | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MCCC1-H464P | het unknown | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCN7-V418M | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR3C2-V180I | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-T539I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-Q2659H | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSEL-P683S | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSEL-R203* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | JUP-M697L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-H141Y | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-A192V | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPA1L-T493M | het unknown | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | IRAK4-A428T | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLCO1B3-S112A | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.25 | ARVCF-R906Q | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | ARVCF-M54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ARSB-V376M | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | ARSB-V358M | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERBB2-I655V | het unknown | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | VWF-T1381A | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VWF-Q852R | het unknown | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AP3B1-V585E | het unknown | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | THAP7-A115P | het unknown | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | THAP7-A115P | het unknown | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NDUFS7-P23L | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0 | GUCY2D-P701S | het unknown | 0.025 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | VCL-M1073Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,765,653,391 bases (96.8% of callable positions, 89.8% of total positions)
Coding region coverage: 32,620,096 bases (98.0% of all genes, 98.7% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY