huEAA391 - GET-Evidence variant report

Variant report for huEAA391

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1DCAF8-R317CHighUncertainUncertain 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
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This 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
3MATN3-T303MModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0106698An 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
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This 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
5LMNB2-R215QLowLikelyLikely pathogenic

Dominant, Heterozygous
0.0109223Carriers 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
6SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
7WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This 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
8TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This 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
9CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This 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
10rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 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
11PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This 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
12CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
0.0474066Reported 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
13KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This 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
14TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
15IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The 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
16IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.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
17TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This 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
18ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This 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
19PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
20FLT4-N149DLowLikelyLikely benign

Unknown, Heterozygous
0.0725056Other 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
21CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
22NEFL-S472ShiftLowLikelyLikely 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
23DMD-R2155WLowLikelyLikely benign

Unknown, Homozygous
0.0269529Probably benign.1
24FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
25RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably 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
26MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
27ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
28RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably 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
29PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
30PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
31PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
32RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
33APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
34TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
35SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This 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
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
37WFS1-R456HLowUncertainUncertain benign

Unknown, Heterozygous
0.0454545Reported benign in ClinVar1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32620096 / 33282720 = 98.01%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.90599543825355776138955553-955698, 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
2GABRD10.949963208241356813591950863-1950930
3PEX1010.9949031600407759812337963, 2340019-2340022
4NPHP410.997664097173561042815935147-5935156
5ESPN10.8553606237816837125656485020, 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
6PLEKHG510.9350893697083720731896528092, 6529183-6529185, 6530863, 6530869, 6530913, 6530937, 6532654, 6532659, 6533413, 6534096, 6534106-6534154, 6534220-6534224, 6534511-6534647, 6557380-6557383
7KIF1B10.9951063429324326531310357000, 10425181-10425188, 10425584-10425600
8PEX1410.992945326278668113410659365-10659371, 10690004
9TARDBP10.994377510040167124511082356-11082362
10MASP210.994662785055811206111103539-11103549
11PLOD110.997710622710625218411994840, 12009860-12009863
12MFN210.996921723834657227412052634-12052640
13CLCNKA10.9883720930232624206416353248-16353256, 16354391-16354397, 16355707, 16356985-16356991
14CLCNKB10.9907945736434119206416371029, 16373044-16373050, 16378725, 16378832, 16382979, 16383399-16383406
15ATP13A210.9881456392887442354317313004, 17313316-17313324, 17313343, 17313604-17313605, 17313608-17313610, 17313618-17313641, 17313654, 17322619
16SDHB10.99051008303677884317350491-17350498
17ALDH4A110.9905437352245916169219202926, 19208254-19208268
18PINK110.9816723940435332174620960122, 20960146-20960148, 20960270-20960276, 20960286, 20960291, 20960329, 20960380-20960390, 20960398-20960404
19ALPL10.999365079365081157521904072
20HSPG210.991727383120831091317622149879, 22160020, 22176624-22176630, 22181193-22181203, 22181445, 22182049, 22192221-22192232, 22199122-22199129, 22199141-22199143, 22207254, 22263648-22263710
21WNT410.9270833333333377105622469339-22469415
22RPL1110.99813780260708153724020336
23GALE10.999044890162371104724123551
24FUCA110.9914346895074912140124186321-24186331, 24194728
25SEPN110.89028776978417183166826126722-26126904
26HPCA10.99828178694158158233359456
27ZMPSTE2410.996498599439785142840747015-40747019
28COL9A210.997101449275366207040769479-40769480, 40770037, 40781309, 40782866-40782867
29KCNQ410.91858237547893170208841249766-41249793, 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
30CLDN1910.974814814814811767543201559-43201561, 43201574-43201578, 43201617, 43203962-43203969
31LEPRE110.9800995024875644221143213022-43213029, 43232408, 43232438-43232460, 43232547-43232558
32MPL10.9921383647798715190843818343-43818344, 43818352-43818356, 43818430-43818437
33EIF2B310.996320824135395135945446836-45446840
34MUTYH10.9923518164435912156945798284-45798295
35POMGNT110.999495713565311198346654983
36STIL10.9966382208430313386747728639-47728651
37ORC110.998066511987635258652847364, 52850330-52850333
38CPT210.999494183105721197753662629
39DHCR2410.9903288201160515155155352585-55352591, 55352602-55352608, 55352611
40BSND10.99896157840083196355474129
41PCSK910.9836459836459834207955505549-55505555, 55505558-55505567, 55509606-55509607, 55523091-55523103, 55524256, 55529215
42ALG610.9869281045751620153063867925, 63881549-63881555, 63894656-63894657, 63894664-63894672, 63894700
43LEPR10.9962835906232113349866036469, 66058532-66058543
44CTH10.998357963875212121870883620-70883621
45ACADM10.999217527386541127876228378
46RPL510.99328859060403689493307383-93307388
47ABCA410.999413661682794682294473845-94473846, 94497417, 94497572
48DPYD10.9967511371020110307897848012-97848017, 98144654-98144655, 98144703, 98348885
49AGL10.99499891280713234599100327854, 100327858, 100343297-100343310, 100379191-100379197
50DBT10.99033816425121141449100684230-100684243
51COL11A110.959318306761962225457103345256-103345262, 103364222-103364249, 103364272-103364300, 103364325-103364329, 103364535-103364550, 103380312-103380352, 103412441-103412449, 103412460-103412461, 103435793, 103435796, 103444632, 103455097-103455127, 103471677, 103471844, 103488302, 103488488-103488535
52GSTM110.948249619482534657110230525, 110235885-110235917
53AMPD110.9968805704099872244115223022-115223028
54NGF10.988980716253448726115828718-115828725
55VANGL110.9993650793650811575116226612
56HSD3B210.998212689901721119119964706-119964707
57NOTCH210.98044768069041457416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120612000-120612009
58FLG10.925570326604390712186152276219-152276225, 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
59CHRNB210.9993373094764711509154544378
60GBA10.9941520467836371197155186254-155186260
61LMNA10.991181657848325567156105079-156105083
62LMNA10.9969924812030161995156084727, 156105079-156105083
63SEMA4A10.9969378827646572286156130820, 156131218, 156131224-156131228
64NTRK110.97030531158511712391156830727-156830760, 156830766, 156830777-156830781, 156830783-156830799, 156830804-156830807, 156830814, 156830817-156830823, 156830834, 156830837
65PPOX10.99163179916318121434161136665-161136669, 161137241-161137247
66NDUFS210.9949712643678271392161182206-161182212
67MPZ10.988416988416999777161279644-161279652
68TBX1910.98292501855976231347168274313-168274335
69SLC19A210.9979919678714931494169454958-169454960
70F510.99475655430712356675169510337-169510370, 169510475
71FASLG10.9692671394799126846172628465-172628478, 172628545-172628556
72DARS210.9989680082559321938173794406, 173795825
73NPHS210.9939236111111171152179544890-179544895, 179544898
74RNASEL10.99550763701707102226182545391-182545399, 182555110
75LAMC210.9977666108319483582183194777-183194780, 183212402-183212405
76HMCN110.998521409983442516908185891614-185891615, 185902815, 185932935, 185932938-185932941, 185976348-185976349, 186007137-186007140, 186017941, 186034370, 186037122-186037129, 186052074
77CFH10.98863636363636423696196648753-196648758, 196658688-196658691, 196658696-196658698, 196658719-196658744, 196695687-196695689
78CFHR110.992950654582077993196794758, 196797211, 196799715-196799718, 196799808
79CFHR510.98011695906433341710196952031-196952033, 196953121-196953138, 196953146-196953149, 196963279-196963286, 196967283
80ASPM10.992045236726098310434197069705-197069709, 197069712-197069714, 197071231-197071237, 197073638, 197073641, 197073650, 197074017-197074056, 197102718-197102721, 197104269-197104272, 197104275, 197104278-197104281, 197104286, 197104289, 197104305-197104306, 197108986-197108993
81CACNA1S10.9996442547136325622201022715, 201039408
82CD4610.997531200207943666-207943668
83RD310.994897959183673588211654729-211654731
84USH2A10.998462425523742415609215916610-215916616, 215916619, 215940049-215940054, 215940073-215940078, 216497691-216497694
85PSEN210.999257609502611347227069734
86GJC210.756060606060613221320228345531, 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
87ACTA110.99029982363316111134229567810-229567813, 229567852-229567854, 229567926, 229568072-229568073, 229568126
88GNPAT10.9980420949583942043231401147-231401150
89LYST10.995353322812555311406235897877-235897884, 235937240-235937253, 235938316-235938318, 235950526-235950532, 235950584, 235969183, 235973782-235973800
90ACTN210.99478584729981142685236917274-236917277, 236917291-236917300
91MTR10.9989468141126943798237060343, 237060942-237060944
92RYR210.995840042941496214904237433871, 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
93FH10.97912589693412321533241661138, 241661171-241661175, 241661179, 241661186, 241661195-241661196, 241669379, 241669382, 241669388-241669403, 241671978, 241672050, 241676911-241676912
94NLRP310.9958212793314133111247582361-247582364, 247587989, 247587992, 247588023, 247588028, 247588044, 247588053-247588056
95NET1100.99944165270798117915454715
96GATA3100.99775280898876313358100728, 8100738, 8100743
97OPTN100.9930795847750912173413174083-13174094
98PHYH100.999016715830881101713330442
99DCLRE1C100.9937469937469913207914970027-14970039
100CUBN100.99558498896247481087216945965, 16957085-16957088, 16960633-16960640, 16970179-16970185, 17085914-17085918, 17085922, 17085925-17085930, 17171150, 17171153-17171167
101PTF1A100.8844984802431611498723481578-23481580, 23481676-23481677, 23481700, 23481703-23481704, 23481714, 23481727, 23481760, 23481764, 23481777, 23481830-23481878, 23481887-23481924, 23481935-23481937, 23481944-23481945, 23482151-23482154, 23482162-23482165, 23482704
102MYO3A100.9948464234178525485126243855-26243858, 26385310-26385329, 26500868
103PDSS1100.9735576923076933124826994215-26994247
104MASTL100.9946909366704614263727459083-27459089, 27459976-27459982
105RET100.9626307922272125334543572707-43572779, 43598039-43598050, 43600575-43600585, 43619138-43619166
106ERCC6100.994645247657324448250708703, 50740794-50740816
107CHAT100.9305740987984156224750822263-50822269, 50822275-50822280, 50822288-50822430
108PCDH15100.9930378672100541588955587208, 55626415-55626436, 55782857-55782859, 55945000-55945002, 55955519-55955529, 56128902
109EGR2100.981132075471727143164573467-64573492, 64573654
110KIAA1279100.99571275455528186670770731-70770738
111CDH23100.99761336515513241005673206121-73206127, 73326543, 73464773, 73490337-73490340, 73567092-73567099, 73574847, 73574909-73574910
112VCL100.9970631424375910340575854065-75854066, 75854127-75854128, 75873961, 75874612, 75874621-75874624
113LDB3100.9839743589743635218488451655-88451659, 88476152-88476153, 88476165-88476187, 88476199, 88476241-88476243, 88476249
114BMPR1A100.994996873045658159988659646, 88683143-88683149
115GLUD1100.997614788312464167788854370, 88854411, 88854421-88854422
116LIPA100.9912120090975703-90975714
117PDE6C100.999611951882031257795422803
118PLCE1100.999276306267195690996076367-96076371
119HPS1100.98860398860399242106100177364-100177375, 100177379-100177389, 100177393
120COX15100.98864557988646141233101478156-101478168, 101491752
121ABCC2100.99892194911654638101542630-101542634
122PAX2100.9938414164742181299102587327-102587334
123C10orf2100.9995133819951312055102748596
124FBXW4100.9983857949959621239103372201, 103372204
125HPS6100.98324742268041392328103825263-103825264, 103825445-103825456, 103825652-103825659, 103825770, 103825896-103825899, 103826048-103826059
126SUFU100.98350515463918241455104263927, 104263942, 104263949-104263951, 104263964-104263965, 104263976-104263980, 104263987-104263997, 104264082
127COL17A1100.99621717846017174494105816803-105816808, 105816811-105816813, 105816817, 105816822-105816824, 105816831-105816832, 105816912, 105816916
128SHOC2100.9994282447112611749112767354
129HABP2100.99346405228758111683115327248-115327258
130EMX2100.960474308300430759119302798-119302802, 119302806, 119302831, 119302834, 119302889-119302893, 119302912-119302920, 119302926-119302927, 119302949-119302954
131BAG3100.9953703703703781728121431970-121431975, 121436165, 121436170
132FGFR2100.999593991067812463123274679
133HTRA1100.844767844767842241443124221169-124221307, 124221349-124221352, 124221358-124221361, 124221367-124221370, 124221375-124221393, 124221416-124221417, 124221431-124221437, 124221440-124221441, 124221444-124221478, 124221504, 124221628-124221633, 124271564
134ACADSB100.9992301770592811299124768578
135OAT100.99166666666667111320126090402-126090405, 126097344-126097350
136UROS100.998746867167921798127484677
137TALDO1110.9980276134122321014747564, 747570
138SLC25A22110.9115226337448686972791944, 792617-792623, 792632-792694, 792875-792880, 792890-792896, 792901, 792903
139PNPLA2110.928052805280531091515819719-819739, 819760-819769, 819785, 819788-819792, 819797, 819802-819806, 819808-819863, 819871-819874, 824006-824007, 824013-824015, 824533
140CTSD110.965294592413244312391775246-1775247, 1775279, 1780249-1780255, 1785023-1785034, 1785053-1785054, 1785058-1785069, 1785078-1785084
141TNNI2110.9854280510018285491861635-1861641, 1861646
142TNNT3110.97812097812098177771958193-1958209
143H19110.966386554621853610712017844-2017867, 2018256-2018267
144IGF2110.991561181434667112154398, 2161485-2161488, 2161502
145TH110.989841269841271615752187998, 2191021, 2191024, 2191032, 2191036, 2191057, 2191953-2191956, 2191963-2191964, 2191967, 2191978, 2191981, 2191984
146KCNQ1110.9290989660265914420312466329-2466340, 2466345, 2466404-2466436, 2466453-2466460, 2466468-2466556, 2466633
147CDKN1C110.620399579390123619512905944-2905955, 2905963, 2905971-2905985, 2906001-2906258, 2906284, 2906322, 2906326, 2906355, 2906378-2906382, 2906392-2906452, 2906458-2906461, 2906493
148SMPD1110.990506329113921818966411931-6411942, 6411951, 6411960, 6412743, 6412868, 6412875, 6413016
149SBF2110.99837837837838955509829595, 9867175-9867176, 9867181-9867184, 9871726, 10315602
150ABCC8110.9938895912347229474617438485-17438491, 17449902, 17491724-17491733, 17496564-17496574
151USH1C110.95444444444444123270017531137-17531160, 17531173-17531225, 17531251, 17531293-17531309, 17531311-17531330, 17531332-17531337, 17531357, 17548818
152HPS5110.9970501474926310339018320427-18320436
153LDHA110.99099099099099999918422433-18422441
154SLC6A5110.9912280701754421239420622721-20622741
155ANO5110.9832239241429646274222249059-22249060, 22276972, 22276997-22276999, 22277001-22277038, 22277064, 22277068
156FANCF110.997333333333333112522646843-22646844, 22646854
157PAX6110.996059889676915126931824291, 31824326-31824327, 31824332, 31824346
158WT1110.9420849420849490155432413583-32413594, 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
159PDHX110.9608233731739759150634938294-34938295, 34969138-34969153, 35016580-35016620
160RAG1110.99776500638577313236594869-36594875
161ALX4110.9765372168284829123644331147-44331148, 44331153-44331163, 44331173-44331176, 44331263, 44331266, 44331269, 44331273-44331278, 44331294-44331296
162SLC35C1110.990530303030310105645827822, 45832518-45832526
163PEX16110.999039385206531104145939296
164F2110.995184590690219186946745011-46745019
165DDB2110.9914330218068511128447238421-47238431
166MADD110.999797734627831494447307013
167SLC39A13110.9901433691756311111647433921, 47434015, 47434018, 47434971-47434978
168RAPSN110.999192897497981123947460382
169SERPING1110.9833666001330725150357365744-57365768
170TMEM216110.99621212121212126461165280
171ROM1110.9895833333333311105662381200-62381210
172SLC22A12110.995788206979547166264367174, 64367254, 64367260, 64367270, 64367274, 64367281, 64367290
173PYGM110.99960458679321252964527364
174MEN1110.9940476190476211184864577388-64577398
175CST6110.942745065780380-65780406
176BBS1110.997194163860835178266281953, 66299433-66299436
177SPTBN2110.99930294158655717366457626, 66457658, 66466134, 66472847, 66476485
178PC110.9954763924229616353766618708-66618714, 66620085-66620087, 66620099-66620100, 66633737-66633740
179CABP4110.9975845410628282867225858, 67225915
180AIP110.97180261832832899367256813, 67257559-67257578, 67257869-67257875
181NDUFV1110.994982078853057139567377030-67377036
182NDUFS8110.969984202211691963367799781-67799784, 67799794-67799799, 67800740-67800748
183TCIRG1110.992378660248719249367810272-67810273, 67810282, 67811339-67811349, 67811355-67811356, 67811772, 67816576-67816577
184LRP5110.97318481848185130484868080183-68080273, 68131215-68131225, 68153793, 68181425-68181439, 68193555-68193562, 68207363, 68207366-68207367, 68207373
185CPT1A110.999569336778641232268527752
186IGHMBP2110.9919517102615724298268671467, 68701340-68701362
187DHCR7110.997899159663873142871146575-71146577
188MYO7A110.999247894103495664876890832-76890836
189FZD4110.9925650557620812161486662787-86662798
190MTMR2110.999482401656311193295657111
191TRPC6110.99606580829757112796101362287-101362297
192DYNC2H1110.9873310158362316412945102991510-102991531, 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
193ACAT1110.9984423676012521284107992346, 107992379
194ATM110.99760113400938229171108098365, 108098376, 108098379, 108151821, 108178652-108178665, 108188122-108188123, 108188140, 108204619
195DLAT110.99125514403292171944111896973-111896988, 111909981
196APOA1110.9813432835820915804116706778, 116706798-116706799, 116706802-116706806, 116706851-116706857
197FXYD2110.995433789954342438117693376, 117693383
198SLC37A4110.9990636704119911068118897378
199DPAGT1110.98940505297474131227118967863, 118971370-118971381
200ROBO3110.99206921413122334161124738730-124738731, 124738940, 124742418-124742426, 124743615, 124745194-124745195, 124745934, 124746271, 124746275, 124750437-124750445, 124750448-124750453
201WNK1120.98908938313051787149863191-863196, 970408-970417, 994425-994461, 995056-995058, 1005436-1005444, 1006720-1006732
202CACNA2D4120.993848857644992134141902904-1902913, 2019073-2019083
203CACNA1C120.99618960524312565612794934-2794940, 2797717-2797721, 2797726-2797729, 2797840-2797844, 2797846-2797848, 2797866
204KCNA1120.991263440860221314885021531-5021543
205VWF120.9866145463160411384426094228-6094231, 6103054, 6122736, 6125926-6125937, 6131112-6131118, 6131926-6131934, 6131943-6131982, 6132003-6132033, 6166052, 6166161-6166167
206TNFRSF1A120.992690058479531013686438598, 6438601, 6438608-6438614, 6438655
207SCNN1A120.99954275262917121876472614
208TPI1120.98266666666667137506976731-6976741, 6976823, 6976827
209ATN1120.976490344248538435737045892-7045928, 7046368-7046369, 7046378-7046384, 7046393-7046399, 7046580, 7047137, 7047142, 7047145-7047148, 7047162-7047177, 7047180-7047181, 7050631-7050636
210PEX5120.99947257383966118967354416
211AICDA120.9865996649916285978757506-8757509, 8757515-8757518
212GYS2120.9730113636363657211221712028-21712076, 21757409-21757416
213ABCC9120.9913978494623740465021998556-21998573, 22025569-22025573, 22063896-22063903, 22068664, 22068760-22068767
214DNM1L120.9895974672094123221132884049, 32890855-32890876
215PKP2120.9952267303102612251432955377, 33049578, 33049605, 33049657-33049665
216KIF21A120.9965904532691517498639745579, 39745587-39745588, 39752174-39752175, 39756991, 39760214, 39760289-39760298
217LRRK2120.9949894514767938758440657649-40657655, 40681237-40681249, 40687370, 40687375, 40717004-40717010, 40740619-40740625, 40749917-40749918
218IRAK4120.9913232104121512138344180202-44180205, 44180227-44180234
219VDR120.9875389408099716128448251303-48251308, 48251370-48251379
220COL2A1120.9966397849462415446448374750, 48379743-48379748, 48393724-48393731
221MLL2120.984290357529792611661449420600, 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
222DHH120.99832073887492119149483718, 49483736
223TUBA1A120.99561403508772245649522578, 49522605
224AQP2120.99877450980392181650344887
225ACVRL1120.998677248677252151252308235, 52308280
226KRT81120.9868247694334720151852682999-52683005, 52685086-52685090, 52685096, 52685186-52685192
227KRT86120.995208761122527146152697949-52697955
228KRT83120.995276653171397148252714762-52714768
229KRT6B120.9504424778761184169552841338-52841344, 52843632-52843637, 52844243, 52844246, 52844265, 52844362, 52845365-52845371, 52845432-52845438, 52845527-52845534, 52845596-52845606, 52845662-52845687, 52845797-52845804
230KRT6C120.91386430678466146169552863210-52863216, 52863564, 52865295-52865300, 52865900-52865928, 52866022, 52867024-52867069, 52867091-52867109, 52867187-52867193, 52867255-52867265, 52867324, 52867339-52867342, 52867372-52867378, 52867457-52867463
231KRT6A120.9457227138643192169552881527-52881550, 52881868-52881874, 52882264-52882270, 52884735, 52886478, 52886542-52886559, 52886637-52886644, 52886708-52886714, 52886907-52886925
232KRT5120.9921037789058114177352908850-52908852, 52912902-52912909, 52913601-52913603
233KRT2120.999479166666671192053045626
234KRT1120.999483204134371193553069130
235KRT4120.997759103641464178553201453-53201456
236AAAS120.989031078610618164153701649-53701666
237ITGA7120.9909515469935831342656086688, 56086721, 56091519-56091547
238RPS26120.99712643678161134856436357
239KIF5A120.998709261051954309957968960-57968963
240CYP27B1120.996725605762935152758158192, 58159821, 58159836-58159838
241TSFM120.99897750511247197858176597
242GNS120.99578059071737165965152931-65152937
243LEMD3120.9934210526315818273665563548, 65563656, 65563755, 65563758, 65563761, 65609758, 65612398, 65632543-65632549, 65640043-65640046
244TPH2120.994568906992538147372335457, 72338089-72338095
245BBS10120.999539594843461217276742029
246CEP290120.9947580645161339744088462325, 88472952-88472953, 88472956-88472957, 88505070-88505071, 88505081, 88512271-88512283, 88519060, 88519065, 88519105-88519112, 88523546-88523553
247TMPO120.999520383693051208598909805
248SLC17A8120.9971751412429451770100774552, 100797880-100797883
249SYCP3120.98593530239110711102125381-102125387, 102127422-102127424
250GNPTAB120.9984089101034263771102142964-102142969
251IGF1120.986394557823138588102813437, 102874144-102874150
252UNG120.9819532908704917942109535532-109535543, 109535571, 109535576-109535578, 109535582
253MVK120.9924433249370391191110019228-110019236
254TRPV4120.9980886850152952616110232228-110232231, 110236497
255ATXN2120.879502790461694753942112036596, 112036599-112036636, 112036667, 112036688-112036698, 112036716, 112036719-112036720, 112036728-112036729, 112036740-112037003, 112037017-112037142, 112037208-112037234, 112037261-112037262
256PTPN11120.9988776655443321782112888122-112888123
257SDS120.990881458966579987113831764-113831772
258TBX5120.99357739242132101557114793623-114793632
259TBX3120.98969534050179232232115109903-115109920, 115118792-115118796
260HNF1A120.9963080168776471896121434361, 121435318, 121438900-121438904
261ATP6V0A2120.98599766627771362571124209269-124209272, 124209276-124209307
262PUS1120.96806853582555411284132425837-132425863, 132425984, 132426214-132426226
263GJB6130.986005089058521178620797158-20797168
264SACS130.99803493449782271374023906155-23906165, 23908354-23908360, 23908678-23908680, 23912982-23912986, 23949281
265PDX1130.99882629107981185228498399
266B3GALTL130.9926519706078811149731774259-31774269
267BRCA2130.99161548210978861025732893300-32893348, 32910658-32910671, 32911254, 32913419-32913431, 32937591, 32968904-32968910, 32972413
268FREM2130.993165089379665951039261565-39261578, 39261583-39261586, 39261909-39261945, 39450210-39450218, 39450284
269SUCLA2130.9885057471264416139248528337-48528342, 48547467, 48562763-48562770, 48575363
270RB1130.9870828848223936278748878050-48878061, 48939043, 48939049, 48941645, 48947580, 48955385, 48955437-48955444, 48955521-48955525, 49039191-49039193, 49039346-49039347, 49051518
271ATP7B130.997498863119611439852523872-52523882
272CLN5130.999183006535951122477566380
273EDNRB130.993980436418368132978474717, 78474734, 78475211, 78475336-78475339, 78492547
274SLITRK1130.9942611190817812209184453835, 84453838-84453840, 84454911, 84454915-84454921
275ZIC2130.893683552220141701599100634389-100634409, 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
276PCCA130.9977137631458652187100764100, 100962159-100962162
277ERCC5130.9988204765274854239103514413-103514416, 103514867
278COL4A1130.99560878243513225010110830541-110830547, 110853802, 110859226-110859238, 110959369
279F7130.9947565543071271335113773036-113773042
280GRK1130.9970449172576851692114321793, 114325956-114325959
281RPGRIP1140.9992229992233386121785860-21785861, 21798509
282SLC7A7140.997395833333334153623282121-23282124
283PABPN1140.6872964169381128892123790681-23790706, 23790709, 23790715-23790720, 23790739-23790763, 23790776-23790846, 23790857-23790863, 23790878-23791029
284MYH6140.998625429553268582023852528-23852529, 23857396, 23858204, 23858210, 23858215-23858217
285MYH7140.993973829201135580823886362-23886367, 23886879, 23887516-23887517, 23887526-23887528, 23887532, 23887537, 23887563-23887566, 23891404-23891420
286NRL140.952380952380953471424550563-24550566, 24550593-24550597, 24550600, 24550604, 24550608-24550610, 24550615-24550623, 24550682-24550685, 24550695-24550701
287PCK2140.9942797711908511192324567802-24567809, 24568258-24568260
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439WNT3170.9756554307116126106844851094, 44851147, 44851151, 44851225-44851229, 44851239-44851240, 44851243-44851258
440ITGB3170.9890156316011826236745331245, 45331258, 45369777, 45369781-45369789, 45369796, 45369806-45369818
441COL1A1170.9799772468714488439548264044-48264056, 48266322-48266325, 48266777-48266805, 48267931, 48267942, 48273694-48273728, 48276626, 48276680, 48276686-48276688
442NOG170.99856938483548169954671857
443RAD51C170.995579133510175113156809896-56809900
444TRIM37170.997582037996557289557105926, 57138468-57138469, 57158511-57158514
445TBX4170.9932844932844911163859534013-59534021, 59534025-59534026
446BRIP1170.988842375059763206-59763246, 59885834
447ACE170.96072430502423154392161554456-61554566, 61554577-61554584, 61560857, 61574262, 61574552-61574561, 61574565-61574573, 61574584-61574588, 61574631, 61574634-61574637, 61574644-61574645, 61574696, 61574708
448SCN4A170.993286154962837551162018243, 62038712-62038747
449AXIN2170.9952606635071112253263533733-63533735, 63553978-63553980, 63553988-63553993
450PRKAR1A170.998254799301922114666523981-66523982
451SOX9170.9751633986928138153070117829-70117835, 70119791-70119793, 70120031-70120041, 70120088-70120090, 70120104-70120105, 70120131-70120134, 70120233-70120240
452COG1170.96500169894665103294371189224-71189238, 71189244-71189246, 71189258, 71189261-71189265, 71189275-71189299, 71189303-71189309, 71189321-71189328, 71189332, 71189338-71189350, 71189403-71189425, 71189487, 71189490
453DNAI2170.9911991199119916181872306208-72306215, 72306223-72306230
454USH1G170.9956709956716138672915755, 72916207-72916211
455TSEN54170.9936748893105610158173512653, 73512667, 73512679, 73512827, 73512832-73512834, 73512837, 73512847, 73512910
456ITGB4170.9875662826842268546973726968-73726969, 73726972, 73726976-73726979, 73729662, 73733622-73733623, 73739876-73739883, 73749943-73749969, 73750018-73750024, 73751788-73751797, 73751802-73751803, 73751874-73751877
457GALK1170.9898218829516512117973759190, 73760037, 73761154, 73761185-73761188, 73761213-73761217
458UNC13D170.9899175068744333327373825059-73825064, 73826659-73826669, 73827365, 73827377-73827385, 73827388, 73831542, 73832745, 73832762, 73832767, 73832776
459ACOX1170.9939485627836612198373944371-73944382
460SEPT9170.91425326519023151176175484929-75484935, 75486880-75486887, 75494605-75494740
461GAA170.9944036376355416285978078597-78078598, 78078663-78078670, 78082503-78082504, 78085790, 78086720, 78087053-78087054
462SGSH170.996023856858856150978194025-78194028, 78194079, 78194082
463ACTG1170.99911347517731112879477724
464FSCN2170.9743069641649838147979495929, 79503963-79503966, 79504021, 79504032-79504037, 79504041-79504044, 79504047-79504068
465NDUFV2180.9973333333333327509102766-9102767
466AFG3L2180.9774436090225654239412367048-12367059, 12377000, 12377019, 12377042-12377081
467NPC1180.998436278342466383721115539-21115542, 21166306-21166307
468LAMA3180.99460107978404541000221269648-21269649, 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
469DSC3180.9825343738387247269128576781-28576782, 28584298-28584310, 28622581, 28622588-28622609, 28622612-28622620
470DSC2180.999630450849961270628681869
471DSG2180.9907655644921131335729078220-29078222, 29078231-29078238, 29102205-29102212, 29115235-29115246
472DTNA180.999103942652332223232438249-32438250
473LOXHD1180.995780590717328663644098170-44098173, 44140077, 44140216, 44140276-44140297
474MYO5B180.9931494501532438554747352944-47352980, 47480729
475ATP8B1180.999733759318421375655328563
476RAX180.9894332372718511104156936395, 56936437-56936440, 56936507, 56936510, 56936558, 56936561-56936563
477TNFRSF11A180.9670448406266961185159992586-59992595, 59992603-59992607, 59992612-59992617, 59992620-59992650, 60021754, 60052230-60052237
478CTDP1180.9941094941094917288677439952-77439956, 77440029, 77440032-77440035, 77440038, 77440043-77440046, 77457963, 77513721
479ELANE190.818407960199146804852340, 853015-853017, 853262-853403
480KISS1R190.741854636591483091197917659-917668, 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
481STK11190.99923195084485113021219403
482GAMT190.9938271604938358101401310-1401314
483MAP2K2190.923524522028269212034123781-4123872
484TUBB4190.992509363295881013356495438, 6495648-6495649, 6495665-6495670, 6495680
485C3190.982972756410268549926694572-6694582, 6707087, 6707095-6707129, 6707151, 6707163-6707166, 6707229-6707234, 6707825-6707848, 6709769, 6714180, 6714195
486INSR190.992528320077133141497142834-7142841, 7184499, 7184530-7184531, 7184563, 7184566, 7184642, 7267867, 7267870, 7293843, 7293847, 7293852-7293858, 7293863, 7293868-7293872
487MCOLN1190.993115318416521217437594504-7594505, 7595264-7595268, 7595276-7595279, 7598508
488PNPLA6190.983935742971896439847606917-7606919, 7615248, 7615899-7615905, 7615910-7615912, 7616284, 7616299, 7619506-7619521, 7620233-7620253, 7620553-7620563
489STXBP2190.989898989898991817827702038-7702052, 7706695, 7707107, 7708098
490ADAMTS10190.99516908212561633128650086, 8650101-8650107, 8650348, 8654218, 8654221-8654225, 8654228
491TYK2190.9896184062850737356410463144, 10463147, 10463614-10463615, 10463618, 10463622-10463626, 10463708-10463730, 10464230-10464232, 10464242
492DNM2190.998851894374283261310941662, 10941665, 10941668
493PRKCSH190.9886578449905518158711558341-11558343, 11558348, 11558351-11558364
494MAN2B1190.9953886693017114303612759029-12759031, 12759100, 12767849, 12767852-12767853, 12767859-12767865
495CACNA1A190.94827815450073389752113318267-13318278, 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
496NOTCH3190.97301177146138188696615271754-15271758, 15271763, 15271868, 15271991-15271999, 15281177-15281184, 15281310-15281332, 15281507, 15281516, 15281528-15281529, 15281535, 15288568-15288576, 15288620-15288627, 15288647-15288658, 15288745, 15303008-15303011, 15311615-15311716
497JAK3190.9795555555555669337517940917-17940961, 17940977-17940991, 17941313-17941315, 17941322, 17941329, 17941335, 17945489, 17945499, 17945502
498SLC5A5190.978778467908941193217984959-17984990, 17985003, 17994541-17994547, 18001767
499COMP190.95294635004398107227418895130-18895133, 18896504, 18896529, 18896775-18896792, 18899229-18899238, 18900013, 18900751-18900756, 18900759-18900801, 18900809, 18900812-18900818, 18900872, 18900901-18900902, 18900912-18900921, 18901660, 18901668
500CEBPA190.6480965645311379107733792429, 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
501SCN1B190.93680297397775180735521725-35521764, 35523506-35523513, 35524802-35524804
502MAG190.9941520467836311188135790477, 35791051, 35791076-35791077, 35791130-35791135, 35791255
503PRODH2190.995034140285548161136297715-36297718, 36297729-36297731, 36303319
504NPHS1190.992216854535729372636321991-36322001, 36336338-36336341, 36336610-36336614, 36336620, 36336624-36336625, 36336659, 36336662, 36336665, 36336690, 36339573-36339574
505SDHAF1190.928160919540232534836486235, 36486310, 36486314, 36486370-36486377, 36486401-36486414
506RYR1190.98299927234242571511738931404-38931409, 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
507ACTN4190.9839181286549744273639138426-39138429, 39138491, 39138495-39138510, 39138523-39138525, 39138531-39138545, 39200950-39200952, 39214636-39214637
508DLL3190.9908454496499717185739993508, 39993573-39993575, 39993582, 39993598-39993606, 39993628, 39997871, 39998137
509PRX190.95736434108527187438640900916, 40901308-40901317, 40901323-40901331, 40903092-40903098, 40903399-40903402, 40903405, 40903418-40903419, 40903424-40903431, 40903734-40903740, 40909613-40909614, 40909634-40909769
510TGFB1190.9727195225916532117341837055-41837077, 41858921-41858929
511BCKDHA190.994020926756358133841929049-41929056
512RPS19190.99543378995434243842364902, 42364905
513ATP1A3190.9777052746057682367842471026-42471033, 42471039, 42471043-42471050, 42471221, 42471324, 42471331-42471336, 42480568-42480600, 42480636, 42480639-42480644, 42480667-42480676, 42482090-42482096
514ETHE1190.968627450980392476544012186, 44012212, 44031249-44031270
515BCAM190.9554848966613784188745312382, 45312388-45312402, 45312410, 45312415, 45312420-45312428, 45312441-45312444, 45312449, 45317461-45317463, 45322951-45322953, 45324034-45324079
516APOE190.96645702306083295445411951-45411958, 45412019-45412023, 45412026, 45412133, 45412136, 45412350-45412353, 45412464-45412475
517BLOC1S3190.96880131362891960945683036-45683054
518ERCC2190.9956197985107310228345867005, 45872353-45872361
519OPA3190.99815837937385154346087950
520SIX5190.93108108108108153222046269631-46269641, 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
521DMPK190.94603174603175102189046274245, 46274266, 46274301-46274307, 46285492, 46285495, 46285507-46285509, 46285523-46285610
522FKRP190.85752688172043212148847259015-47259024, 47259151, 47259155, 47259270, 47259355, 47259428-47259484, 47259490-47259529, 47259607-47259639, 47259649-47259687, 47259838-47259853, 47260064-47260068, 47260089, 47260092-47260098
523CRX190.99888888888889190048342641
524DBP190.901840490797559697849138838-49138865, 49138867-49138869, 49138888-49138892, 49138909-49138915, 49138950-49138956, 49138960-49138977, 49139088, 49139107-49139114, 49139124-49139125, 49139135, 49139139-49139144, 49140198-49140207
525BCAT2190.99915182357931117949303464
526MED25190.9915329768270919224450321621, 50333115, 50333375, 50333769, 50334109, 50334127, 50334130, 50339499-50339505, 50339508-50339510, 50339516-50339517
527PNKP190.994891443167318156650365029-50365033, 50365644, 50365652, 50365826
528MYH14190.9844542628047895611150713673-50713682, 50713976-50713980, 50770211-50770241, 50771505-50771515, 50780056-50780058, 50780132-50780158, 50789916-50789923
529KCNC3190.6301671064204841227450823503-50823571, 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
530KLK4190.976470588235291876551412528, 51412627, 51412631-51412641, 51412650-51412654
531NLRP12190.9830508474576354318654313319, 54313594-54313600, 54313623-54313627, 54313637-54313668, 54313852-54313854, 54313864, 54313869, 54313883-54313885, 54314391
532PRKCG190.9565425023877791209454385817, 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
533PRPF31190.997333333333334150054627128-54627130, 54627133
534TSEN34190.9924973204716793354695321, 54695333, 54695356-54695359, 54695363
535NLRP7190.9874759152215839311455445062-55445069, 55450414-55450436, 55450953, 55451167-55451173
536TNNT1190.984790874524711278955652279, 55652324-55652328, 55657802-55657806, 55658056
537TNNI3190.99178981937603560955667579, 55667692, 55667695-55667696, 55667700
538AURKC190.99139784946237893057746265-57746272
539TPO20.99892933618844328021480976-1480977, 1481231
540KLF1120.9727095516569242153910183844-10183885
541LPIN120.999625888514781267311964841
542MYCN20.9698924731182842139516082454, 16082457, 16082465, 16082570, 16082573-16082577, 16082597-16082615, 16082618-16082620, 16082640, 16082659, 16082785-16082791, 16085846-16085847
543MATN320.997262149212874146120212209, 20212373, 20212376, 20212379
544APOB20.99664037394099461369221225017-21225020, 21225077, 21231938-21231954, 21266751, 21266761-21266765, 21266773-21266789, 21266799
545POMC20.896766169154238380425384033, 25384357, 25384378, 25384384-25384390, 25384409-25384480, 25387624
546HADHA20.996509598603848229226416481-26416488
547OTOF20.96946946946947183599426697389, 26697403-26697414, 26699759-26699911, 26700115-26700119, 26700132-26700140, 26712594-26712596
548C2orf7120.9873286785621949386729293888-29293889, 29294038, 29294103-29294129, 29295170-29295187, 29295372
549ALK20.999588731235862486330143313, 30143441
550XDH20.999750124937531400231560570
551SPAST20.86061588330632258185132288997-32289040, 32289058, 32289063-32289064, 32289075-32289276, 32289296-32289299, 32289311-32289315
552CYP1B120.9834558823529427163238301969, 38301972, 38301975, 38301978-38301985, 38301992-38302002, 38302199-38302200, 38302232, 38302424, 38302430
553SOS120.9940029985007524400239222395-39222401, 39224411-39224417, 39224511-39224520
554ABCG520.9907975460122718195644058954, 44058959-44058966, 44058988-44058996
555ABCG820.999010880316522202244099364, 44104925
556LRPPRC20.9930704898446829418544139647-44139657, 44174870-44174871, 44175332-44175333, 44203343-44203345, 44204324-44204333, 44222955
557SLC3A120.999514091350831205844502767
558SIX320.975975975975982499945169439, 45171740-45171762
559MSH220.9828877005347648280547639563-47639598, 47639680, 47641438-47641441, 47698145-47698148, 47703655-47703657
560MSH620.96889542003429127408348010423-48010425, 48010436, 48010438-48010445, 48010452-48010565, 48027825
561LHCGR20.9666666666666770210048915598-48915610, 48982692, 48982746-48982801
562NRXN120.9907344632768441442550149276-50149279, 50149282, 51254939-51254940, 51255121-51255128, 51255132, 51255145, 51255357-51255380
563EFEMP120.960863697705858148256102151-56102158, 56108844, 56144951-56144999
564FANCL20.992907801418448112858392934-58392941
565SPR20.942748091603054578673114605-73114611, 73114628, 73114636-73114638, 73114652, 73114782, 73114788-73114794, 73114801-73114814, 73115505-73115515
566ALMS120.991922584772871011250473613006-73613011, 73613015-73613022, 73613034-73613066, 73613161, 73676091-73676098, 73676403-73676439, 73827996-73828002, 73828342
567DCTN120.9940057336460823383774592660-74592665, 74597109-74597113, 74597748-74597750, 74598106-74598114
568MOGS20.998408910103424251474689611, 74692349-74692351
569HTRA220.976034858387833137774757141, 74757259-74757266, 74757306, 74757360-74757363, 74757386-74757392, 74757548-74757559
570SUCLG120.993275696445737104184670459-84670465
571GGCX20.9956082564778210227785781399, 85786152-85786154, 85788521, 85788525, 85788530, 85788537-85788539
572SFTPB20.99563699825485114685895270-85895274
573REEP120.947194719471953260686564602-86564633
574EIF2AK320.985974336019147335188887500-88887503, 88926688-88926712, 88926730-88926732, 88926738-88926747, 88926754-88926758
575TMEM12720.931659693165974971796930876-96930878, 96930889, 96930893, 96930923-96930930, 96931033, 96931061-96931095
576SNRNP20020.99937607237564641196947649-96947652
577RANBP220.964961240310083399675109352023-109352030, 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
578NPHP120.97590953785644492034110881599-110881600, 110881603, 110917745-110917754, 110917815-110917819, 110922629-110922659
579MERTK20.992243000112656328, 112656338-112656346, 112656354-112656359, 112722768-112722770, 112786383, 112786434-112786437
580PAX820.9985218033998521353113999671-113999672
581GLI220.957992018483512004761121712924, 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
582BIN120.99663299663361782127808386-127808390, 127816637
583PROC20.95310245310245651386128178871-128178874, 128180612-128180614, 128180617-128180635, 128180644-128180654, 128180661, 128180674-128180678, 128180688, 128180704-128180711, 128180717-128180718, 128180727-128180730, 128180734-128180739, 128180743
584CFC120.8898809523809574672131279610-131279631, 131280381-131280382, 131280389, 131280409, 131280430-131280457, 131280475-131280477, 131285306-131285322
585RAB3GAP120.98913781398506322946135815610, 135815618-135815626, 135888122-135888131, 135926220-135926231
586LCT20.9996542185338925784136570457, 136575380
587MCM620.98621248986212342466136602235-136602238, 136614421-136614432, 136616941-136616958
588ZEB220.99478737997257193645145161651-145161653, 145274864-145274871, 145274880-145274886, 145274889
589NEB20.9916391308701316719974152370847, 152421558-152421605, 152423955-152423969, 152427047-152427050, 152432691, 152432707-152432708, 152432722-152432724, 152432727-152432728, 152432745-152432817, 152432868, 152482058-152482069, 152496975-152496978, 152497149
590CACNB420.99104286628279141563152955506-152955519
591SCN2A20.99684280491858196018166170176-166170177, 166170182, 166170442-166170453, 166171986, 166171996, 166221710, 166237672
592GALNT320.9973711882229251902166621504, 166621507-166621510
593SCN1A20.98949474737369635997166903295-166903308, 166908312-166908319, 166912981-166912984, 166915101-166915137
594SCN9A20.99528142905292285934167056347, 167094668-167094670, 167094768-167094777, 167129381-167129384, 167144974, 167168070, 167168078, 167168099-167168104, 167168173
595ABCB1120.9952092788704193966169836376-169836394
596CHN120.9992753623188411380175869640
597HOXD1320.898255813953491051032176957664-176957679, 176957683, 176957690-176957695, 176957711-176957717, 176957737, 176957740, 176957775-176957806, 176957812-176957834, 176957966-176957975, 176958336-176958343
598AGPS20.9711684370258571977178257607, 178285024-178285030, 178333160, 178346813-178346818, 178346827-178346832, 178346851, 178346855, 178346875, 178362457-178362480, 178372731-178372732, 178372735-178372741
599PRKRA20.998938428874731942179315708
600TTN20.99780544250259220100248179392338, 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
601NEUROD120.9925303454715281071182543545-182543552
602COL3A120.98636673483299604401189850442, 189850449, 189850459-189850460, 189850465-189850466, 189854122-189854127, 189860418-189860420, 189860432-189860454, 189860862-189860868, 189861917-189861923, 189871682-189871685, 189872623-189872625, 189872664
603COL5A220.99688888888889144500189916910, 189916927-189916934, 189932778-189932781, 189951496
604PMS120.98713826366559362799190718726-190718741, 190719001, 190728705, 190728713-190728726, 190728733-190728736
605STAT120.98801597869507272253191859865-191859868, 191859888-191859891, 191859893-191859894, 191859899-191859902, 191859913-191859925
606CASP820.98948670377242171617202137414, 202137419, 202149629, 202149795-202149808
607ALS220.9929634097306354974202571570, 202572669-202572677, 202591397-202591407, 202609087-202609094, 202622267, 202626387-202626391
608BMPR220.9977542508822673117203378538-203378541, 203424600-203424602
609NDUFS120.9995421245421212184207018361
610FASTKD220.998593530239132133207636648, 207652783-207652784
611CPS120.9991117033089144503211455538-211455539, 211473171, 211473174
612ABCA1220.99858757062147117788215797412, 215797424, 215847000-215847003, 215854138, 215854142-215854144, 215901724
613SMARCAL120.9996509598603812865217285111
614PNKD20.9965457685664941158219204578, 219204592-219204594
615BCS1L20.9944444444444471260219527354-219527360
616WNT10A20.9688995215311391254219745762-219745797, 219757605, 219757611, 219757697
617DES20.9794762915782291413220283228, 220283242-220283243, 220283246, 220283259, 220283280, 220283361, 220283620, 220283623-220283642, 220283703
618OBSL120.940607977508353385691220416283-220416292, 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
619COL4A320.9870337123479655013228029511, 228102723, 228134632-228134663, 228142241-228142244, 228142248-228142257, 228163439-228163443, 228163448-228163459
620CHRND20.99227799227799121554233390930-233390941
621CHRNG20.99292149292149111554233404461-233404464, 233409564-233409570
622UGT1A120.99001248439451161602234668950-234668954, 234668958-234668959, 234668963-234668971
623COL6A320.9962240402769369534238270435, 238270442-238270445, 238274540-238274542, 238280453-238280455, 238283334, 238287694-238287695, 238296689-238296690, 238303521-238303540
624D2HGDH20.96807151979566501566242674691-242674697, 242674747-242674749, 242707140, 242707207, 242707212, 242707227, 242707319-242707335, 242707341-242707342, 242707350-242707361, 242707376-242707380
625C20orf54200.9971631205673841410744354-744357
626AVP200.563636363636362164953063276-3063284, 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
627PANK2200.8727378867483921817133869832-3869860, 3869872-3869873, 3869877, 3869880, 3869911-3869952, 3869983-3869989, 3869994, 3869998-3870010, 3870102-3870108, 3870173-3870287
628FERMT1200.99754178957719520346088195-6088198, 6100101
629JAG1200.9920700027344829365710653545-10653554, 10653621-10653629, 10654147, 10654150, 10654159-10654162, 10654175-10654178
630C20orf7200.9759152215799625103813769235-13769236, 13782136-13782143, 13782266-13782280
631THBD200.9751157407407443172823029675, 23029682, 23029871-23029903, 23030085-23030088, 23030091-23030094
632SNTA1200.92819499341238109151832000207-32000208, 32031152, 32031167-32031221, 32031231, 32031339-32031362, 32031371, 32031375-32031381, 32031384-32031390, 32031401-32031411
633GDF5200.994687915006648150634025123-34025130
634HNF4A200.9929824561403510142543052773-43052775, 43052781-43052787
635ADA200.999084249084251109243280222
636CTSA200.9919839679358712149744520233-44520243, 44523633
637SLC2A10200.999384993849941162645354534
638DPM1200.966794380587482678349551754-49551773, 49557449-49557452, 49557462-49557463
639SALL4200.9962049335863412316250407179, 50408343, 50408351-50408353, 50418836, 50418840, 50418844, 50418848-50418851
640VAPB200.99863387978142173257014076
641GNAS200.9906872190109229311457430034, 57430043-57430059, 57430072-57430077, 57430105, 57430108, 57430112-57430114
642COL9A3200.9523114355231198205561448424-61448434, 61448439-61448440, 61448443-61448446, 61448450-61448484, 61448490, 61456357-61456373, 61461915, 61467572-61467583, 61468556-61468566, 61468571-61468574
643CHRNA4200.9888535031847121188461981328, 61981677, 61992477-61992495
644KCNQ2200.9606720122184103261962038132-62038138, 62038406-62038446, 62038727-62038728, 62046342-62046348, 62073788-62073794, 62073798, 62076663, 62103637-62103638, 62103650-62103673, 62103679-62103681, 62103711, 62103721-62103727
645SOX18200.55064935064935519115562679731, 62679773, 62679776-62679778, 62679834-62679860, 62679951-62679952, 62680032, 62680071-62680072, 62680078-62680098, 62680103-62680105, 62680112, 62680159-62680257, 62680512-62680869
646APP210.999135322092522231327284107, 27348313
647BACH1210.9895974672094123221130715032-30715054
648IFNGR2210.9280078895463573101434775850-34775922
649KCNE1210.9974358974359139035821823
650RCAN1210.920948616600796075935987170, 35987184-35987200, 35987209-35987218, 35987220-35987222, 35987226, 35987241-35987267, 35987270
651RUNX1210.9792099792099830144336164432-36164443, 36164462, 36259321-36259322, 36259349-36259357, 36259372-36259377
652CBS210.99939613526571165644478971
653CSTB210.99326599326599229745196133, 45196136
654AIRE210.92673992673993120163845705926-45705932, 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
655ITGB2210.9770562770562853231046308608-46308609, 46308615-46308625, 46308635-46308636, 46308641-46308643, 46308647-46308655, 46308662, 46308676-46308700
656COL18A1210.97701804368471121526546876187-46876210, 46876525-46876559, 46876649-46876657, 46876673, 46876685, 46876723-46876745, 46888212-46888215, 46888226, 46888238-46888240, 46888657-46888659, 46911220, 46923925-46923928, 46923937-46923943, 46929484-46929486, 46930158, 46930163
657COL6A1210.95853579527049128308747401765-47401827, 47409029-47409051, 47410172-47410198, 47419586, 47419591-47419597, 47419603-47419606, 47420673, 47423332, 47423442
658COL6A2210.9931372549019621306047531459-47531461, 47545379-47545385, 47552025-47552026, 47552029-47552034, 47552038, 47552166, 47552192
659COL6A2210.99707602339181134247552192
660FTCD210.9784747847478535162647565445, 47565486-47565492, 47565741-47565743, 47565746-47565754, 47565762-47565776
661PCNT210.987513734891621251001147744178, 47744181-47744191, 47786646-47786655, 47801710-47801755, 47805803-47805809, 47811095-47811102, 47817959, 47817997, 47818005, 47831408-47831414, 47831437-47831459, 47832898-47832906
662PEX26220.99346405228758691818561229-18561234
663PRODH220.91902384914032146180318908899-18908906, 18923534-18923564, 18923576-18923638, 18923707-18923715, 18923726-18923733, 18923736, 18923741, 18923745, 18923755-18923766, 18923773, 18923777-18923782, 18923786-18923790
664GP1BB220.7761674718196513962119711377-19711414, 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
665TBX1220.70362903225806441148819748428-19748629, 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
666SMARCB1220.993955094991367115824134065-24134071
667UPB1220.9904761904761911115524906753-24906756, 24906778-24906784
668HPS4220.9943181818181812211226854520-26854526, 26859942, 26860674-26860677
669CHEK2220.92504258943782132176129083906-29083926, 29083935-29083966, 29085160-29085194, 29090020-29090033, 29091778-29091791, 29091837-29091844, 29115390-29115397
670NF2220.996644295302016178829999998-30000003
671TCN2220.998442367601252128431011612, 31011618
672SLC5A1220.9934837092731813199532463970, 32463975, 32487644-32487647, 32487717-32487718, 32495199-32495202, 32495237
673TIMP3220.99685534591195263633198003, 33253280
674LARGE220.996917657419647227133780221-33780227
675MYH9220.9935407105218438588336685231-36685236, 36688100, 36688106-36688108, 36688111-36688115, 36691551, 36691558, 36696277-36696297
676TRIOBP220.97971259509721144709838111837, 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
677SOX10220.999286224125621140138379685
678PLA2G6220.999586947542341242138516800
679EP300220.9939268461007644724541513254-41513278, 41527458, 41527600, 41546138-41546146, 41546156-41546157, 41546161, 41574046, 41574176, 41574181-41574183
680TNFRSF13C220.843243243243248755542322124-42322147, 42322218-42322230, 42322233-42322251, 42322266-42322271, 42322284, 42322291-42322295, 42322319, 42322326, 42322668, 42322716, 42322730, 42322733-42322738, 42322754-42322761
681CYB5R3220.976821192052982190643045301-43045321
682ATXN10220.994397759103648142846067958, 46068021, 46068025, 46136281-46136282, 46136398-46136400
683ALG12220.999318336741651146750307387
684MLC1220.9814814814814821113450502485-50502494, 50502583-50502585, 50502603, 50502606-50502612
685TYMP220.87508626639061181144950964199-50964230, 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
686ARSA220.9895013123359616152451063678-51063681, 51063686, 51063704-51063707, 51063712-51063717, 51063861
687SHANK3220.81216628527841985524451113070-51113132, 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
688SUMF130.99644444444444411254458926, 4508828-4508830
689ITPR130.997049059387682481334726753-4726761, 4774883, 4829663-4829676
690CAV330.9978070175438614568787528
691FANCD230.9954710144927520441610107165-10107171, 10114937-10114949
692VHL30.95950155763242664210183587-10183593, 10183714, 10183719-10183735, 10183743
693RAF130.996404725218287194712632346-12632352
694TGFBR230.998875772906132177930648468-30648469
695GLB130.999508357915441203433055705
696CRTAP30.9585406301824250120633155576, 33155583, 33155597-33155601, 33155619-33155646, 33155831, 33155843, 33155846, 33155876, 33155907-33155917
697SCN5A30.9971132620139217588938592034-38592038, 38592041-38592048, 38592061-38592062, 38651454-38651455
698TMIE30.949891067538132345946742956, 46743002-46743010, 46743013, 46743016-46743026, 46743034
699TMIE30.953290870488322247146743002-46743010, 46743013, 46743016-46743026, 46743034
700TREX130.991891891891899111048507890-48507897, 48508927
701COL7A130.9980758347481617883548605039, 48612849-48612852, 48616644-48616647, 48626835, 48627112, 48627135-48627139, 48627142
702LAMB230.999073559384845539749160597, 49162827, 49162882-49162884
703AMT30.992574257425749121249455096-49455103, 49457769
704GNAT130.991452991452999105350231531-50231535, 50231541, 50231546, 50231617, 50231621
705HYAL130.999235474006121130850338016
706RFT130.9913899138991414162653156395-53156402, 53156411-53156412, 53156418, 53156424, 53157785, 53157790
707TKT30.996794871794876187253262164-53262165, 53289904-53289907
708HESX130.99820788530466155857232228
709FLNB30.9979510820847716780958092450-58092456, 58109139-58109141, 58109144-58109146, 58134028-58134030
710PDHB30.997222222222223108058419374, 58419397-58419398
711ATXN730.88477801268499327283863898275-63898599, 63981830, 63982103
712PROK230.930769230769232739071830640-71830643, 71834150-71834172
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802VCAN50.99872436463546131019182785926, 82786066-82786069, 82818060, 82868298-82868304
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805PCSK150.999557913351021226295764929
806WDR3650.9982492997198952856110436357-110436359, 110438085, 110459873
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813MYOT50.98797595190381181497137222928-137222931, 137222936-137222942, 137222966-137222972
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825SQSTM150.97430083144369341323179248007-179248023, 179248046-179248052, 179248056-179248058, 179248073-179248079
826FLT450.98509286412512614092180038364, 180046344-180046345, 180047187-180047199, 180047641-180047644, 180057055, 180076488-180076495, 180076514-180076545
827FOXC160.8405535499398326516621610762, 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
828TUBB2B60.964872944693574713383225448-3225494
829F13A160.99681673487949721996305708-6305714
830DSP60.997446610956362286167542277, 7565678-7565697, 7578062
831TFAP2A60.996194824961955131410398770, 10410329-10410332
832DTNBP160.9867424242424214105615627614-15627622, 15663066, 15663088-15663091
833ATXN160.94607843137255132244816327415-16327419, 16327425-16327429, 16327432-16327434, 16327441, 16327448, 16327844-16327959, 16328417
834NHLRC160.999158249158251118818122573
835ALDH5A160.998785670916822164724495399, 24495441
836ZFP5760.9925512104283112161129640367-29640378
837HLA-H60.815075029855764-29855767, 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
838TNXB60.917055469155160192931976916, 31976926, 31977164-31977170, 31977368-31977394, 31977528, 31977538, 31977548, 31977552, 31977786-31977792, 31977994-31978001, 31978498-31978527, 31978781-31978815, 31979326-31979332, 31979451-31979482, 31979526
839CYP21A260.9448924731182882148832006206-32006235, 32006886, 32007404-32007410, 32007787-32007793, 32007843-32007849, 32008195-32008201, 32008448-32008455, 32008893-32008907
840TNXB60.989315735721581361272932009648-32009664, 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
841HLA-DQA160.8450520833333311976832605236-32605237, 32605253-32605298, 32609169, 32609181, 32609207, 32609212-32609213, 32609216, 32609227-32609241, 32609312, 32609749, 32609806, 32609813, 32609852-32609876, 32610387-32610406, 32610436
842HLA-DQB160.6374045801526728578632629124-32629173, 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
843COL11A260.9952024563423525521133132157, 33138338-33138341, 33138344, 33140090, 33140110, 33140116-33140117, 33140130-33140140, 33146114-33146117
844SYNGAP160.89707341269841415403233388042-33388108, 33393575-33393680, 33410710, 33411197-33411221, 33411349, 33411352, 33411460-33411503, 33411510-33411678, 33419633
845FANCE60.9807572936064631161135420337, 35420345, 35420360-35420365, 35420387-35420395, 35420399, 35420403-35420410, 35420414, 35420464, 35423582, 35425352-35425353
846TULP160.999386126457951162935480042
847PEX660.9680598029221994294342935287-42935298, 42946449, 42946466, 42946529-42946531, 42946651-42946655, 42946658, 42946746-42946792, 42946805-42946828
848RSPH960.99638989169675383143612888, 43612912, 43612945
849RUNX260.92848020434227112156645390412-45390413, 45390426-45390535
850CD2AP60.99531259192047512426, 47563616-47563618, 47563688-47563692
851MUT60.9951176209498411225349409609, 49419355, 49421466, 49423917-49423924
852PKHD160.99885480572597141222551497496, 51497499, 51907826-51907829, 51923363-51923365, 51947998-51948002
853EFHC160.9838793551742131192352318988, 52318998-52319009, 52319015-52319017, 52334204-52334218
854EYS60.9952305246422945943564436568, 65146146, 65523332-65523333, 65596676-65596702, 66115229-66115242
855LMBRD160.9919901417128813162370410761, 70462166-70462168, 70462173-70462181
856COL9A160.9956616052060712276670926724-70926735
857RIMS160.9805079740106399507972889607-72889608, 72892097, 72892336-72892339, 72892360-72892362, 72892383, 72892597, 72945425, 72945430, 72960624-72960635, 72974689-72974696, 73023309, 73043332-73043343, 73108675, 73108693, 73108715-73108722, 73108740-73108780, 73108796
858MYO660.999740798341111385876564913
859LCA560.999522445081181209480196848
860BCKDHB60.997455470737913117980881007-80881009
861SLC35A160.9881656804733712101488182727, 88210374-88210381, 88210964, 88210968-88210969
862RARS260.994818652849749173788240637-88240645
863PDSS260.997531200107780270-107780272
864OSTM160.98208955223881181005108366007-108366015, 108395739, 108395746-108395748, 108395753, 108395759-108395761, 108395828
865FIG460.99375917767988172724110106173-110106181, 110110836-110110843
866WISP360.9937444146559471119112382324-112382327, 112382390-112382391, 112389445
867COL10A160.99216837983358162043116442805-116442814, 116443070, 116446564-116446566, 116446580-116446581
868RSPH4A60.9958158995815992151116937910-116937915, 116937918, 116949167-116949168
869LAMA260.99476663462565499363129204418-129204420, 129635844-129635864, 129663594-129663602, 129759846-129759857, 129794460-129794463
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1010SARDH90.99056945955749262757136555503-136555510, 136568113, 136597567-136597575, 136599274-136599281
1011COL5A190.98568062352728795517137534055-137534057, 137534063-137534068, 137534078-137534129, 137534134, 137534137-137534142, 137623926-137623933, 137696839, 137710545-137710546
1012LHX390.888337468982631351209139089298, 139089454, 139089457, 139090782-139090789, 139090795-139090804, 139090810-139090818, 139090840-139090842, 139090847, 139090859-139090905, 139094798, 139094812-139094847, 139094851, 139094854-139094862, 139094870-139094876
1013INPP5E90.96330749354005711935139326301-139326312, 139326317-139326327, 139326962-139326969, 139333155-139333160, 139333182, 139333295-139333300, 139333305-139333310, 139333317-139333321, 139333331, 139333334-139333339, 139333487-139333488, 139333504, 139333531, 139333743-139333746, 139333771
1014NOTCH190.986437141366721047668139390576-139390581, 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
1015AGPAT290.9402628434886550837139571951, 139581705-139581719, 139581730-139581731, 139581742-139581746, 139581749-139581750, 139581776, 139581778-139581785, 139581794-139581809
1016SLC34A390.94555555555556981800140127472, 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
1017EHMT190.98870926353605443897140513501, 140605446-140605450, 140605454-140605473, 140638500-140638507, 140706042-140706048, 140729310-140729312
1018SHOXX0.994311717861215879595521-595525
1019KAL1X0.99559471365639920438699935, 8699938-8699939, 8699999-8700003, 8700026
1020GPR143X0.99843137254902212759733687, 9733690
1021SMSX0.9582198001816546110121958946-21958991
1022ARXX0.92184724689165132168925025308, 25031284-25031287, 25031325-25031329, 25031332-25031333, 25031439-25031478, 25031483-25031485, 25031494, 25031656-25031704, 25031712, 25031771-25031774, 25031779, 25031784-25031804
1023RPGRX0.94160161896502202345938145167-38145178, 38145334-38145377, 38145445-38145540, 38145553-38145565, 38145583-38145595, 38145598-38145602, 38145605, 38145608-38145610, 38145631-38145645
1024NYXX0.92185338865837113144641333037-41333039, 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
1025SYN1X0.996694995278567211847433899-47433901, 47478805-47478808
1026CFPX0.997872340425533141047488981-47488983
1027WASX0.9900596421471215150948547062-48547065, 48547213-48547223
1028FGD1X0.9986139986144288654494253-54494256
1029ARX0.9761129207383366276366765146-66765161, 66765183-66765194, 66765199-66765208, 66765212-66765219, 66765222, 66765226, 66766368, 66766376-66766392
1030DLG3X0.998777506112473245469665277-69665279
1031MED12X0.9912764003673157653470338605-70338618, 70338628-70338633, 70338655-70338660, 70338673-70338676, 70360617, 70360623, 70360626-70360634, 70360638-70360645, 70361101, 70361112-70361118
1032TAF1X0.985744456177481568270586165-70586227, 70586238-70586243, 70586259-70586260, 70586296-70586301, 70586317-70586319, 70586328
1033SLC16A2X0.9896851248642819184273641389-73641394, 73641418-73641423, 73641436-73641442
1034BRWD3X0.99870586060277540980064942-80064946, 80064969-80064970
1035PCDH19X0.9969751966122210330699663416-99663420, 99663574-99663578
1036ZIC3X0.96866096866097441404136648985-136648987, 136651066-136651070, 136651093-136651098, 136651108-136651131, 136651203-136651208
1037SOX3X0.97091722595078391341139585957-139585958, 139586133-139586142, 139586149, 139586166-139586170, 139586470-139586485, 139586503, 139586509-139586512
1038SLC6A8X0.932389937106921291908152954045, 152954112-152954231, 152954242-152954248, 152954253
1039ABCD1X0.99195710455764182238153008473-153008486, 153008675-153008678
1040L1CAMX0.9994700582935923774153129443, 153141265
1041MECP2X0.98263193052772261497153363072-153363081, 153363087-153363098, 153363107-153363109, 153363122
1042FLNAX0.9993705941591157944153588185-153588189
1043G6PDX0.995726495726571638153775068-153775074
1044USP9YY0.9943922796035543766814898605-14898647
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3LMNB2-R215Qhet unknown0.011Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.666 (possibly damaging)
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5MYH9-R1466Whet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-V410Ihet unknown0.047Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-S225Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhomozygous0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ACY1-R393Hhet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
2RTN4R-R119Whet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2MEFV-R202Qhomozygous0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T3826Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5MATN3-T303Mhet unknown0.011Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027336-P160LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-V73FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-W23*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1PLXNA3-R350Qhomozygous0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.604 (possibly damaging)
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CPNE1-P535Lhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
1CPNE1-A402Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CPNE1-P347Rhomozygous0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
1CPNE1-Q211Rhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CACNA1F-R1930Hhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NR_027242-N339Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L114Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-R141Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R456Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1BACH1-G471Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHM-S89ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NSD1-A691Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1NSD1-S726Phomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NSD1-A1036Phet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
1NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CACNA1A-G1104ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1OPN1LW-L153Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PKP2-L366Phet unknown0.221Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP2-S70Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DMD-R2155Whomozygous0.027Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SPTLC1-R151Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-I543Vhomozygous0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CCDC66-D5ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1MTRR-S284Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-R442Chet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-P477Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYO5C-R172Chomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1P2RY4-P352Thomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1P2RY4-I247Vhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1P2RY4-N178Thomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1WNK1-A141Thomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WNK1-E1923Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-M1Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DSP-I305Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1USH2A-R5031Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-P3893Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D3144Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-N3099Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R2875Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-R2292Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E2238Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RETNLB-L14Shifthomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PPOX-R304Hhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FANCB-G335Ehomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q28Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625DNAI2-G340Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-P1054Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625NPC1-W1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFN14-Y770Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5SLFN14-K385Ehomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN14-P356Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCAKD-R105Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5KRT10-G126Shomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSR1-H750Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5TSR1-D647Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5ABCC1-L57Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCC1-G671Vhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG7-T605Mhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RNF151-H130Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PKD1-A4059Vhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PKD1-I4045Vhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-A3512Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYBBP1A-F35Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYBBP1A-Q8Ehomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX33-R621Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DHX33-H483Dhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GALNS-A393Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-K2413Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-M15Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DHODH-A341Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5LRRC50-N139Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TAF1C-G541Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L481Mhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH19-G645Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CDH19-N527Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-V781Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEG3-R1576Hhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5PEG3-E1362Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LPIN1-V494Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5OTOF-F303Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNNT1-E12Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCDC114-R46Whet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PPP1R15A-A32Thet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-G244Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM83E-T91Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CKAP2L-R695Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.787 (possibly damaging)
0.5CKAP2L-L614Shet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CKAP2L-I375Vhomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.5CKAP2L-A374Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CKAP2L-K371Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNFAIP6-Q144Rhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFAIP6-*278Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5C2orf49-V115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C2orf49-K117Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_003131-M159Vhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_003131-D87Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_003131-R64Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S669Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO5B-M1688Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAB40B-P263Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SGSH-R456Hhomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA9-K1306Thomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADNP2-T86Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.615 (possibly damaging)
0.5ADNP2-G986Ehet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5THEG-R202Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RYR1-G2060Chet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RYR1-S2617Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM187B-W231*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM187B-V216Ihomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM187B-W188*homozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FAM187B-C160Rhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LDLR-A391Thet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR7E24-I64Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging)
0.5OR7E24-P242Shet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRTN3-R249Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5GRIN3B-R404Whomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-Y966Nhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-Q1006Ehomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFAF1-E176Khet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging)
0.5ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDST2-M375Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CC2D2B-Q401Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDH15-P1794Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-R934Qhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D590Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NRP1-F561Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NRP1-V179Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAG2-F386Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-D308Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5RAG1-R449Khet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests
0.5CCDC34-N298Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-E264Ahet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5CCDC34-P53Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5IFITM3-H3Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.804 (possibly damaging)
0.5NRAP-R1566Chomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.5NRAP-L1531Phomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5NRAP-Q360Rhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A344Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5NRAP-V208Ahet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZDHHC13-K99Rhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZDHHC13-Y392Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OR2G6-I158Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR2G6-M258Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5OR2G6-K295Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EPS15-I822Mhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPS15-E583Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EPS15-T582Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM151A-A416Vhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM151A-P335Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTH-S403Ihomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5MASP2-D371Yhomozygous0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MASP2-D120Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CR1L-R97Chet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.933 (probably damaging)
0.5CR1L-R116Ghet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-R410Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-I455Vhet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-L491Phet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5CR1L-V500Ihet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNPAT-D519Ghomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5PHLDA3-R28Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5HMCN1-T1056Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-M2327Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5HMCN1-H4084Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5HMCN1-A4720Thet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-D5087Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5ZNF687-G259Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G636Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5SPAG17-T1590Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FLG-R3738Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2398Qhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A2108Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2020Ahet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-W1947Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-L1943Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1891Qhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FMO3-E158Khomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIP-Q228Khomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-E400Dhomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA1-R125Hhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERPINA10-G271Shet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
0.5SERPINA10-R88*het unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SERPINA10-K46Rhomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UTP14C-G85Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-R319Hhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_028064-V144Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R342Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-A6671Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SYNE2-A6671Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-R6720Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5TRPM1-V1395Ihet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC24A1-L313Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC24A1-S332Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WHAMM-N212Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CCPG1-Y235Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP19A1-T201Mhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SGCG-R116Hhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ST14-R85Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-G59Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT3-K411Rhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.236 (possibly damaging)
0.5B4GALNT3-R992Hhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ANKK1-G318Rhomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ANKK1-H367Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANKK1-H490Rhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DLAT-A43Vhomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FZD4-P168Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.186 (benign), Testable gene in GeneTests with associated GeneReview
0.5FZD4-P33Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BIRC2-A506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EXPH5-N1967Dhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-H523Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CAPZA3-R39Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.901 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCD-D71Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5HPD-H218Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF21A-G614Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5ADCY6-R138Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ZNF354C-Y524Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF354C-F546Lhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF354C-E553Khomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TBC1D9B-K1119Thet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D9B-E819Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5ZNF192-G296Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLT4-R1146Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLT4-N149Dhet unknown0.073Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.358 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-A2907Thet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-G1515Shet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-V1462Mhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-P248Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5YIPF5-A76Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R151Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX6-A809Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNXB-V3186Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M99Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5MOCS1-R452Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOCS1-P390Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-R525Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-E526Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-S532Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB16-Q638Hhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5PCDHB16-A710Vhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCDHB7-V389Lhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB7-S568Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB7-V689Lhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.674 (possibly damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-T458Ahet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALPK1-H642Rhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-S710Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALPK1-M861Thet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEUROG2-G176Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCHS2-H2633Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DCHS2-K2475Rhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DCHS2-E1595Qhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-N897Shet unknown0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-H174Rhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5DCHS2-V153Ahet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.227 (possibly damaging)
0.5FAT4-Q453Lhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FAT4-A807Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.799 (possibly damaging)
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-G3524Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3800Fhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.753 (possibly damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMP2K-A58Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BMP2K-T1002Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5SLC10A6-I114Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG2-V12Mhet unknown0.045Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEIL3-P117Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-P443Lhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-G2502Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5REV3L-R1970Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5REV3L-T1224Ihomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAAR2-W168*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5VPS13B-V2559Ahet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCRIB-H1217Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5SCRIB-V674Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCRIB-P422Lhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5AK094577-C82Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5RECQL4-R1005Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E71Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-E755Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEX15-S1990Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TEX15-L1337Vhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEX15-N1311Shet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEX15-I1035Vhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEX15-C104Rhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RP1-N985Yhomozygous0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5SDR16C6-T318Phomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-S221Thomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-L63*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZFHX4-V66Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFHX4-I2036Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.077 (benign)
0.5ZFHX4-V3033Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.889 (probably damaging)
0.5ZFHX4-P3127Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TOX-N122Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH1-K1628Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOTCH1-R1279Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EXD3-R653Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5EXD3-C545Yhet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-E322Dhomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R220Qhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-A160Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R20Qhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-A1033Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.712 (possibly damaging), Testable gene in GeneTests
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-E1071Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I830Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-I192Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5CRHR2-V240Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CRHR2-E220Dhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0415-L375Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5AKAP12-K117Ehomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5TIAM2-R332Hhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5TIAM2-R973Whet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.959 (probably damaging)
0.5TIAM2-S1089Phomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T1574Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWC2-P148Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GIMAP2-V74Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5NOS3-D298Ehomozygous0.749Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUB1-K4Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.88 (probably damaging)
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POR-A503Vhet unknown0.234Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL18A1-PGP1362Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-PGP1362Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG1L2-S17Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALG1L2-L157Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCA5L-S265Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5LCA5L-G17Shomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR49-G602Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR49-P599Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SDF2L1-R161Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5SATB1-P634*het unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-R109Whet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5IL17RD-P566Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5IL17RD-T255Mhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.077 (benign)
0.5HACL1-I151Fhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBR3-C4Yhomozygous0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-I1409Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NM_001037335-P2205Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NM_001037335-R1381Khomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NM_001037335-E1102Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001037335-S788Nhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001037335-S338Lhomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-R804Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTN-R31515Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V30790Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S29107Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23846Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T23304Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N23184Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-Y22998Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K15140Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-H11456Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-Q7298Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3598Khet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S2831Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-M2610Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A1827Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R1572Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKZF1-R585Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL4A4-S1400Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIGU-G333Ehet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF341-P185Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDCBP2-R191Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SDCBP2-V182Mhet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SRA1-Q32Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-F182Shet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MUT-M375Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SPG11-R1772Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-Q1245Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375TK2-R74Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COX10-R431Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYOM2-Q18*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYOM2-A33Ehet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYOM2-T776Mhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYOM2-N869Shet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYOM2-V1168Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-V847Ahet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB4-R652Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-H297Qhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIRPD-L188Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SIRPD-N55Dhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C10orf11-L5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf11-S153Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASPM-Y2494Hhet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FER1L5-T682Ahet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FER1L5-R1604Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IL17C-R150Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL17C-L151Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25DOK7-G461Dhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPG2-R3141Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OTOP1-E445*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OTOP1-V145Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-N1330Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-A2194Vhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-H1459Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-A641Vhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WNK2-P1501Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WNK2-V2107Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf73-K41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C2orf73-P254LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25ATP4A-Y924Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP4A-V265Ahomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25F12-A207Phet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SHANK3-I245Thet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCD2-N405Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign), Testable gene in GeneTests with associated GeneReview
0.25MSX2-M129Thet unknown0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC1-V460Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSC1-R89Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.233Unknown
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).
0.25MCC-K380Rhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCC-K241Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TTC21A-V406Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_024334-G98Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_024334-R85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_024334-E64Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACIN1-S1327Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25LIFR-V785Ihomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.033 (benign), Testable gene in GeneTests
0.25LIFR-R302Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25LMAN1-R14Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.058 (benign), Testable gene in GeneTests
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TYK2-V362Fhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TYK2-A53Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC48-K69Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC48-R444Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KCNQ2-N780Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPTE-K386Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TPTE-R229*het unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25TPTE-R222Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TPTE-R198*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TPTE-R195Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN7-V418Mhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSEL-P683Shomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSEL-R203*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25ARVCF-R906Qhomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ARVCF-M54Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-Q852Rhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0GUCY2D-P701Shet unknown0.025Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0VCL-M1073Shifthet unknownUnknown
Insufficiently evaluatedPrioritization 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

Gene search

"GENE" or "GENE A123C":

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