hu4664CE - GET-Evidence variant report

Variant report for hu4664CE

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Heterozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).1
2PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
3MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
4SCN11A-L1158PModerateUncertainUncertain pathogenic

Dominant, Heterozygous
Reported by ClinVar to cause familial episodic pain syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/157599/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Huang et al 2014 (https://www.ncbi.nlm.nih.gov/pubmed/24776970). However, it is reported as "uncertain significance" by Emory Genetics Laboratory. Huang et al found this variant heterozygous in two of 345 patients screened with painful peripheral neuropathy. The authors also report molecular evidence that this variant disrupts the function of the SCN11A protein product. This variant is uncommon but not rare: according to ExAC it is carried by 1 in 600 Europeans (http://exac.broadinstitute.org/variant/5-176048219-G-T). The frequency of this variant seems at odds with a proposed "rare disease" effect, and the statistical significance of Huang et al's observation may be weak or absent. They report the variant is also seen in EVS, and a two-tailed Exact Fisher test using their reported numbers produces a p-value of 0.087.1
5SNCB-P123HModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.000185908Reported by ClinVar to cause Lewy body dementia (https://www.ncbi.nlm.nih.gov/clinvar/variation/7026/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Ohtake et al 2004 (https://www.ncbi.nlm.nih.gov/pubmed/15365127). Ohtake et al found this variant in one of 43 patients screened, and hypothesized it causes a "dominant trait with reduced penetrance or a risk factor polymorphism". The statistical significance of this observation is unclear; this variant is moderately (but not extremely) rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T). There don't appear to be any publications since 2004 that have studied affected patients and confirmed Ohtake et al's hypothesis regarding this gene (SNCB) as a cause of this disease.1
6PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
7OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
8FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
11WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
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
12RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
13ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
14TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
15SP110-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
16TP53-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
17CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
18CYP2C9-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
19rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
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
20FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
21CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
22PRNP-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
23NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
24KCNJ11-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
25IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
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
26TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
27IRS2-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
28ARSA-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
29PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
30CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
31NEFL-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
32MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
33GFAP-D295NLowUncertainUncertain benign

Unknown, Heterozygous
0.0333767Reported as a nonpathogenic polymorphism.1
34F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
35ABCB11-R698HLowUncertainUncertain benign

Unknown, Heterozygous
0.00542169Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner.1
36BRCA1-R1347GLowUncertainUncertain benign

Unknown, Heterozygous
0.00427589Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect.1
37ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
38F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
39MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
40PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
41PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
42APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
43PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
44RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
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
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
46THBD-A473VLowUncertainUncertain benign

Unknown, Heterozygous
0.140387While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.1
47TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
48TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
49TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31821928 / 33282720 = 95.61%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5536005213424627406138955553-955753, 957581-957642, 957655-957657, 957670-957842, 970657-970704, 976045-976057, 976068-976087, 976108-976133, 976140-976260, 976553-976765, 976865-976906, 976946-976947, 976952-976958, 976962, 976982-976999, 977021-977025, 977031, 977043, 977052, 977055-977056, 977071-977082, 977409-977487, 977494-977500, 977541, 978650-978691, 978708, 978716, 978719, 978730, 978736, 978759-978786, 978798-978810, 978820-978822, 978918, 978940-978974, 979027-979073, 979083-979112, 979203-979208, 979295-979328, 979352-979360, 979363-979403, 979495-979505, 979552, 979555, 979567, 979570, 979714-979715, 979738-979744, 979749, 979752, 979771, 979774, 979786-979789, 980616-980622, 980638-980657, 980891-980893, 981210, 981233-981237, 981344, 981355, 981359, 981442-981446, 981557, 981593, 981603-981645, 981825-981872, 981883-981899, 981922-981946, 981970-981985, 982030, 982040-982061, 982072-982074, 982092, 982200-982293, 982308-982334, 982725-982730, 982734, 982803, 982833-982834, 982994, 982998, 983009-983010, 983050, 983176-983186, 983230-983260, 983392, 983419-983420, 983423, 983430-983438, 983446, 983458, 983478-983513, 983563, 983568-983575, 983594-983745, 984247-984253, 984256-984261, 984268-984301, 984324, 984327-984380, 984391-984394, 984397, 984430-984439, 984616-984785, 984804-984831, 985014-985058, 985113-985114, 985122, 985133-985175, 985283-985285, 985331-985333, 985337-985344, 985350-985358, 985414-985417, 985641, 985662, 985820-985822, 985872-985877, 985902, 985924, 986139-986162, 986169-986205, 986633-986636, 986642-986656, 986680-986749, 986833-986858, 986867-986872, 986884, 986903, 986930-986963, 986997, 987111-987144, 989185, 990204, 990239-990280
2GABRD10.6136865342163452513591950863-1950930, 1956457-1956463, 1956826, 1956830-1956840, 1956992-1956993, 1956997-1956998, 1957044-1957096, 1957147-1957177, 1959016-1959042, 1959605-1959607, 1959621-1959624, 1959633-1959635, 1959677-1959731, 1960569-1960588, 1960657-1960699, 1960995-1961012, 1961034-1961055, 1961070, 1961088-1961091, 1961102, 1961143, 1961166-1961201, 1961429, 1961434, 1961440-1961474, 1961492-1961513, 1961534-1961542, 1961554, 1961643-1961682, 1961719-1961721
3PEX1010.845056065239551529812337923-2337956, 2338301-2338305, 2340008-2340032, 2340058-2340061, 2340184-2340188, 2340212, 2343830, 2343844-2343891, 2343894-2343922
4NPHP410.9584209296893217842815935056-5935072, 5935152-5935153, 5935156, 6038330-6038473, 6046217, 6046250, 6046253-6046262, 6046335-6046336
5ESPN10.7836257309941555525656485035-6485114, 6485135-6485136, 6485140-6485142, 6485167-6485230, 6485237-6485292, 6485298, 6485305-6485306, 6488286-6488292, 6488301-6488336, 6488377-6488401, 6488426-6488432, 6500366, 6500376-6500391, 6500414-6500417, 6500425, 6500433, 6500466, 6500469-6500472, 6500478, 6500485, 6500691-6500725, 6500749-6500805, 6500840-6500868, 6501011-6501014, 6501027, 6501032, 6501059-6501065, 6505776-6505798, 6505851-6505856, 6505931-6505937, 6508872, 6508885, 6508922-6508928, 6508973-6508982, 6509054-6509085, 6509100-6509106, 6509139-6509145, 6512127-6512133
6PLEKHG510.9551583568516814331896527906-6527913, 6528124-6528127, 6529183-6529188, 6530681-6530689, 6531099-6531100, 6531612-6531617, 6532661-6532667, 6533363-6533369, 6533411-6533415, 6534080-6534126, 6534200-6534202, 6534511-6534520, 6534586-6534592, 6534622, 6534631-6534647, 6557380-6557383
7PEX1410.9726631393298131113410684440-10684457, 10689686-10689691, 10689998-10690004
8TARDBP10.9887550200803214124511082299-11082305, 11082356-11082362
9MASP210.8981077147016210206111094939, 11102937-11102945, 11103439-11103484, 11103582-11103592, 11105465-11105507, 11105523-11105571, 11105582-11105596, 11106750-11106753, 11106760, 11106949-11106953, 11107051, 11107093, 11107158-11107176, 11107260-11107264
10PLOD110.9940476190476213218412024266, 12026355-12026358, 12030752-12030759
11MFN210.999560246262091227412067126
12CLCNKA10.9622093023255878206416356509-16356524, 16356956-16356963, 16357016-16357021, 16357050-16357064, 16357068-16357074, 16357080-16357084, 16357104, 16357151, 16358723, 16358738, 16359020-16359021, 16360106-16360113, 16360141-16360147
13CLCNKB10.979651162790742206416375063-16375064, 16377461-16377473, 16378757-16378783
14ATP13A210.9920970928591628354317313598-17313613, 17314942, 17314945, 17338224-17338233
15HSPG210.99476320582878691317622149935, 22150115, 22199142-22199144, 22199147, 22263648-22263710
16WNT410.89204545454545114105622456111-22456147, 22469339-22469415
17FUCA110.9850107066381221140124194441-24194442, 24194699-24194716, 24194748
18SEPN110.89028776978417183166826126722-26126904
19HPCA10.99828178694158158233359432
20KCNQ410.9636015325670576208841249801-41249802, 41249807, 41249812-41249838, 41249843, 41249862-41249877, 41249891, 41249894-41249896, 41249906-41249908, 41249935-41249947, 41249958-41249961, 41250018-41250020, 41250037, 41296962
21SLC2A110.998647734956052147943424321-43424322
22GSTM110.45814307458143356657110230496-110230531, 110230792-110230807, 110230829-110230867, 110231301-110231321, 110231689-110231691, 110231695, 110231710, 110231714, 110231721-110231726, 110231737, 110231741-110231751, 110231885-110231947, 110232901-110232921, 110232927-110232988, 110233076-110233146, 110233155, 110233159-110233160
23NOTCH210.982335490830641317416120539665-120539714, 120539778-120539784, 120539916, 120547962-120547968, 120548025, 120548051, 120548055, 120572544-120572575, 120611960, 120611991-120612020
24FLG10.90259313966847118712186152276146-152276152, 152276365-152276400, 152276441-152276482, 152276583, 152276616-152276626, 152276671, 152276758-152276775, 152276804, 152276871, 152276889, 152276907, 152277055, 152277104-152277110, 152277137, 152277141-152277158, 152277320-152277357, 152277421-152277473, 152277520-152277534, 152277553, 152277640-152277674, 152277693-152277720, 152277822, 152277842, 152278235, 152278391-152278437, 152278555, 152278686-152278692, 152278853-152278859, 152279179-152279222, 152279587, 152279778-152279826, 152280029-152280036, 152280095, 152280262-152280268, 152280347, 152280570-152280617, 152280646, 152280736, 152280900, 152281007-152281008, 152281039, 152281225-152281231, 152281267-152281307, 152282073, 152282076-152282078, 152282242-152282270, 152282276-152282315, 152282383-152282425, 152282565-152282580, 152282661, 152283010-152283026, 152283093, 152283096-152283097, 152283173, 152283178, 152283233-152283251, 152283266-152283294, 152283398-152283433, 152283467, 152283470, 152283505, 152283513, 152283519-152283526, 152283941-152283979, 152284073-152284097, 152284149-152284187, 152284205-152284217, 152284238-152284280, 152284421-152284453, 152284489-152284494, 152284652-152284694, 152285125-152285160, 152285208-152285209, 152285216, 152285410-152285417, 152285861, 152285973, 152285977-152285988, 152286032, 152286186-152286206, 152286433-152286436, 152287020-152287030, 152287877-152287878
25GBA10.9991645781119511197155186729
26GBA10.99006828057107161611155207994-155208009
27PKLR10.9988405797101421725155269948, 155269987
28NTRK110.9991635299038122391156830740, 156830747
29F510.9923595505618516675169510348, 169510380, 169510480-169510486, 169510502, 169510515, 169510524, 169510602-169510640
30DARS210.9994840041279711938173795879
31NPHS210.9982638888888921152179544858-179544859
32LHX410.98806479113384141173180199675-180199688
33HMCN110.99994085639934116908186094830
34ADCK310.9969135802469161944227152892, 227169790-227169793, 227172966
35GJC210.42196969696977631320228345464, 228345563-228345581, 228345639, 228345644, 228345662-228345681, 228345694-228345700, 228345750-228345766, 228345788-228345864, 228345871-228345921, 228345929-228345937, 228345960-228345993, 228346050-228346108, 228346122-228346135, 228346145, 228346173-228346174, 228346183-228346184, 228346192-228346198, 228346222-228346241, 228346261-228346500, 228346536-228346550, 228346564-228346664, 228346673-228346693, 228346714-228346757
36ACTA110.9964726631393341134229568060-229568061, 229568325-229568326
37ACTN210.99143389199255232685236850034-236850056
38RYR210.99993290391841114904237729923
39FH10.9993476842791911533241682959
40NET1100.99553322166387817915454674, 5454711-5454715, 5454767-5454768
41OPTN100.997116493656295173413151239-13151241, 13151246, 13151250
42PHYH100.997050147492633101713342027-13342029
43CUBN100.9998160412067721087217142013-17142014
44PTF1A100.8561296859169214298723481460, 23481588-23481618, 23481647-23481648, 23481662-23481674, 23481694, 23481700-23481703, 23481741-23481752, 23481758-23481765, 23481869-23481908, 23481936-23481949, 23482124-23482130, 23482164-23482172
45PDSS1100.9487179487179564124826986641-26986662, 26986712-26986753
46RET100.9784753363228772334543572707-43572768, 43615005-43615014
47EGR2100.994409503843478143164573487-64573494
48KIAA1279100.99839228295823186670748712-70748714
49NODAL100.997126436781613104472201339-72201341
50CDH23100.9994033412887861005673464775-73464780
51LDB3100.995879120879129218488476177, 88476180-88476187
52BMPR1A100.995622263914957159988683143-88683149
53GLUD1100.92546213476446125167788836362-88836368, 88854157-88854199, 88854299-88854305, 88854359-88854395, 88854417-88854423, 88854460-88854478, 88854516-88854520
54HPS1100.98670465337132282106100177364-100177382, 100177417-100177423, 100189594-100189595
55FBXW4100.9943502824858871239103454285-103454288, 103454358-103454360
56HPS6100.947164948453611232328103825232-103825239, 103825275-103825320, 103825437-103825474, 103825519-103825526, 103825591-103825608, 103825754-103825757, 103826209
57SUFU100.9993127147766311455104264060
58COL17A1100.9993324432576834494105816885-105816887
59BAG3100.935185185185191121728121411255-121411263, 121411352, 121411361, 121432091-121432121, 121436124-121436137, 121436184-121436210, 121436220, 121436300, 121436366, 121436385, 121436639, 121436732-121436733, 121436737, 121436763-121436764, 121436769-121436781, 121436784-121436789
60HTRA1100.753984753984753551443124221169-124221292, 124221316-124221376, 124221396, 124221400-124221480, 124221487-124221512, 124221522-124221523, 124221534-124221535, 124221556-124221563, 124221567-124221585, 124221590-124221596, 124221617-124221640
61HRAS110.69824561403509172570532637-532656, 532701, 532706, 533505-533543, 533551-533563, 533596-533597, 533600-533607, 533769-533808, 533841, 533848, 533851, 533892-533905, 533943-533944, 534239-534245, 534275-534296
62TALDO1110.93392504930966671014747492-747507, 747529-747567, 763344-763354, 763895
63SLC25A22110.64917695473251341972791932-791941, 791953-791955, 791981, 791987, 791990, 791997-792023, 792056-792068, 792173-792210, 792333-792368, 792378-792410, 792428, 792455-792458, 792579-792588, 792598-792698, 792884-792899, 792926-792933, 792938-792944, 792975-792983, 793551-793555, 794786-794788, 794880-794887, 794896, 794996-795000
64PNPLA2110.788118811881193211515819719-819766, 819779-819905, 823725-823728, 823803, 823807-823813, 823818, 823998-824019, 824114-824118, 824330, 824334, 824394-824418, 824610, 824631-824632, 824656, 824659-824687, 824713-824737, 824789, 824806-824818, 824821-824822, 824842, 824855-824857, 824862
65CTSD110.8837772397094414412391774826, 1775036-1775038, 1775124-1775129, 1775307-1775320, 1775358-1775368, 1778560, 1780246-1780264, 1780762-1780772, 1780779, 1782665-1782673, 1785022-1785089
66TNNI2110.9945355191256835491861646, 1861840-1861841
67TNNT3110.263835263835265727771944114-1944120, 1946329-1946346, 1947925-1947939, 1950351-1950358, 1950372-1950373, 1951040-1951058, 1954951-1955067, 1955161-1955207, 1955216-1955226, 1955237-1955238, 1955562-1955599, 1955609-1955675, 1955776-1955822, 1955831-1955838, 1955847, 1955859-1955885, 1956059-1956067, 1956092, 1956095-1956119, 1956143-1956149, 1958193-1958233, 1959668-1959722
68H19110.99906629318394110712018099
69IGF2110.319268635724334847112154217-2154281, 2154316-2154453, 2154755-2154783, 2154799-2154810, 2154830-2154895, 2156597-2156601, 2156607-2156628, 2156645-2156683, 2156751-2156759, 2161365-2161432, 2161450, 2161477-2161506
70TH110.4285714285714390015752185479-2185547, 2185557-2185559, 2185578-2185583, 2185612-2185622, 2186480, 2186502-2186563, 2186573-2186595, 2186898-2186924, 2186959-2186993, 2187256-2187257, 2187269-2187288, 2187710-2187779, 2187863-2187998, 2188123-2188158, 2188181-2188262, 2188665-2188666, 2188681, 2188689-2188705, 2188708, 2189096-2189163, 2189341-2189382, 2189732-2189736, 2189741, 2189801-2189804, 2189813-2189818, 2189829-2189855, 2190899-2190914, 2190951-2190953, 2190956-2190981, 2191001-2191002, 2191009, 2191012-2191035, 2191047, 2191082-2191084, 2191920-2191939, 2191946-2191948, 2191951-2191977, 2191985-2192000, 2192971
71KCNQ1110.8040374199901539820312466329-2466714, 2591859, 2593278-2593282, 2593335-2593338, 2604704, 2608876
72CDKN1C110.162986330178767969512905234-2905244, 2905253-2905289, 2905314-2905330, 2905344, 2905348-2905364, 2905900-2906542, 2906553-2906596, 2906617-2906620, 2906658-2906667, 2906694-2906700, 2906715-2906719
73SMPD1110.99683544303797618966411931-6411936
74ABCC8110.999367888748423474617498302-17498303, 17498323
75FANCF110.997333333333333112522646844-22646846
76WT1110.9781209781209834155432456572-32456581, 32456664-32456687
77ALX4110.9660194174757342123644286404-44286435, 44286606-44286612, 44331284-44331286
78PEX16110.99711815561963104145935971-45935973
79F2110.9855537720706327186946745015-46745023, 46747558, 46747565, 46747716-46747721, 46751097-46751106
80MADD110.9977750809061511494447306499-47306501, 47306520-47306527
81MYBPC3110.9945098039215721382547367829-47367835, 47372097, 47372124, 47372911-47372914, 47372948-47372953, 47372961, 47372988
82RAPSN110.999192897497981123947463200
83BEST1110.998862343572242175861723190-61723191
84BSCL2110.997840172786183138962470019-62470021
85SLC22A12110.81949458483755300166264359029-64359044, 64359066-64359097, 64359138, 64359141, 64359203-64359218, 64359299-64359303, 64359310-64359320, 64359359-64359363, 64359386-64359395, 64360278-64360284, 64360301-64360322, 64360877-64360896, 64360926-64360966, 64361014-64361031, 64361148-64361186, 64361270-64361275, 64367164-64367183, 64367229-64367240, 64367266-64367268, 64367271-64367284, 64367335
86PYGM110.9940688018979815252964521019, 64521093, 64521352, 64521430, 64521444, 64521793, 64525298-64525305, 64527149
87MEN1110.997294372294375184864572271-64572272, 64577535, 64577577, 64577580
88SPTBN2110.9973511780287219717366468749-66468750, 66475091-66475096, 66475241-66475250, 66475660
89CABP4110.973429951690822282867223010, 67223167-67223171, 67223659-67223671, 67225913-67225914, 67225917
90AIP110.5377643504531745999367254538, 67254542, 67256739, 67256742, 67256751, 67256759, 67256763-67256765, 67256782-67256821, 67256852-67256898, 67257509-67257522, 67257546-67257551, 67257554-67257561, 67257588-67257602, 67257608-67257611, 67257628-67257674, 67257787-67257890, 67257912-67257928, 67258268-67258317, 67258341-67258428, 67258450-67258459
91NDUFS8110.938388625592423963367799625-67799627, 67799789-67799803, 67800671-67800686, 67804009-67804013
92TCIRG1110.81107099879663471249367808768-67808785, 67808828-67808841, 67809234-67809244, 67810239-67810244, 67810276, 67810324, 67810413-67810417, 67810446-67810495, 67810890-67810910, 67811053-67811096, 67811299-67811325, 67811370-67811374, 67811599-67811615, 67811648-67811663, 67811686-67811720, 67811792, 67812430-67812432, 67812486-67812492, 67812532, 67815249-67815261, 67816565-67816591, 67816728-67816741, 67817140-67817153, 67817175-67817227, 67817245-67817250, 67817492-67817533, 67817988-67818005, 67818088
93LRP5110.94183168316832282484868080183-68080273, 68131215-68131232, 68131251-68131269, 68131273, 68131310-68131314, 68131323, 68131361-68131365, 68131395, 68131398, 68131410-68131411, 68174104, 68177469-68177493, 68177527-68177560, 68177598, 68178924-68178964, 68191111-68191113, 68191121, 68193557-68193561, 68201256-68201257, 68204408, 68204418-68204419, 68205946, 68205949-68205952, 68207364, 68207371-68207378, 68207384, 68213973-68213977, 68216329-68216330
94IGHMBP2110.9922870556673423298268671455-68671466, 68671470, 68671477, 68671492-68671500
95MYO7A110.811221419975931255664876883844-76883864, 76883913-76883919, 76885807-76885828, 76885840-76885906, 76885922-76885949, 76886418-76886434, 76886457-76886510, 76888595-76888659, 76888676-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892429, 76892461-76892492, 76892525-76892635, 76892997-76893040, 76893056-76893086, 76893105-76893111, 76893118-76893200, 76893469-76893505, 76893522-76893540, 76893553-76893568, 76893609-76893645, 76894113-76894127, 76894132-76894135, 76894180-76894183, 76895659, 76895673, 76895685, 76895704, 76895747-76895748, 76895759-76895760, 76900394-76900396, 76901065-76901081, 76901110-76901150, 76901157-76901160, 76901810-76901827, 76901857-76901859, 76903111-76903112, 76903218-76903221, 76909658-76909660, 76910786
96TRPC6110.9967811158798392796101454164-101454172
97ATM110.9998909606367919171108114680
98DRD2110.9992492492492511332113281449
99APOA1110.972636815920422804116706775-116706777, 116706780, 116706789-116706792, 116706795-116706808
100SCN4B110.998544395924311687118023371
101HMBS110.992633517495481086118955744-118955751
102ROBO3110.98966594568613434161124735545-124735557, 124735564, 124735617-124735622, 124738878-124738898, 124738931-124738932
103WNK1120.99776192474472167149862865, 862979, 862984-862997
104CACNA2D4120.99209138840072734141902841-1902853, 1906629-1906633, 1909564-1909572
105CACNA1C120.99893308946807765612794934-2794940
106VWF120.993958777540875184426131926-6131932, 6131970-6131982, 6132003-6132033
107TNFRSF1A120.99634502923977513686450942-6450945, 6450949
108SCNN1A120.99954275262917121876483836
109TPI1120.9973333333333327506976731-6976732
110ATN1120.99860061572908535737045892-7045894, 7045909, 7045912
111PKP2120.9673826571201382251433049443-33049444, 33049465, 33049526-33049574, 33049598-33049599, 33049609-33049610, 33049628-33049647, 33049651-33049656
112LRRK2120.999736286919832758440761446-40761447
113COL2A1120.999775985663081446448398065
114MLL2120.9304201276032311561661449424154-49424157, 49424165-49424166, 49424172, 49424174-49424183, 49424412-49424413, 49424767, 49425040-49425048, 49425192-49425201, 49425267-49425269, 49425414, 49425493-49425496, 49425782-49425810, 49425824-49425826, 49425831-49425832, 49425860-49425868, 49426018, 49426060-49426072, 49426144-49426154, 49426188-49426195, 49426223-49426243, 49426275-49426282, 49426336-49426341, 49426364-49426377, 49426522-49426523, 49426528-49426557, 49426561, 49426567-49426571, 49426602-49426698, 49426730-49426732, 49426738-49426748, 49426772-49426774, 49426777-49426779, 49426825-49426826, 49426883-49426942, 49426960-49426964, 49426983-49426988, 49427027-49427062, 49427101-49427123, 49427148-49427151, 49427211-49427235, 49427247-49427298, 49427307-49427343, 49427546-49427566, 49427648-49427649, 49427652, 49427673, 49427713-49427719, 49427874-49427880, 49428251, 49430931-49430963, 49431030, 49431114-49431120, 49431199-49431211, 49431291-49431293, 49431305, 49431319-49431331, 49431496-49431531, 49431545-49431576, 49431586-49431629, 49431698-49431699, 49431764-49431765, 49431788-49431842, 49431848-49431854, 49431860-49431866, 49431890-49431935, 49431997-49431999, 49432115-49432161, 49432218, 49432237, 49432245, 49432255-49432257, 49432325-49432331, 49432384-49432397, 49432457-49432461, 49432504-49432506, 49432625-49432635, 49432657-49432673, 49432701-49432703, 49432746, 49433094-49433117, 49433246-49433257, 49433311, 49433316-49433321, 49433369-49433390, 49433610-49433629, 49433743-49433754, 49433801, 49433824-49433825, 49434019-49434034, 49434042, 49434086, 49434265, 49435112
115TUBA1A120.99342105263158345649522213, 49522238, 49522311
116KRT81120.9367588932806396151852683969, 52684017-52684061, 52684881-52684905, 52684959, 52685176-52685199
117KRT86120.9726214921286840146152696045-52696051, 52696893-52696918, 52699030-52699036
118KRT6B120.9876106194690321169552843632-52843637, 52845432-52845438, 52845574, 52845798-52845804
119KRT6C120.9870206489675522169552865295-52865300, 52867094, 52867105, 52867230-52867236, 52867457-52867463
120KRT6A120.998820058997052169552884735, 52886911
121GNS120.9849306811332125165965152959-65152983
122MMAB120.9721115537848621753110011232-110011252
123TRPV4120.9992354740061222616110252584-110252585
124ATXN2120.84550989345516093942112036595-112036646, 112036649-112036650, 112036661-112036776, 112036782, 112036786-112036791, 112036807-112036830, 112036840-112036847, 112036860-112036963, 112036971-112037172, 112037187-112037238, 112037246-112037286, 112037309
125ACADS120.9991928974979811239121176679
126ATP6V0A2120.99572150914041112571124197168-124197178
127PUS1120.9937694704049881284132425972-132425978, 132426289
128B3GALTL130.99398797595199149731774223, 31774261-31774268
129FREM2130.9969505783385929951039261564-39261592
130SLC25A15130.99227373068433790641382658-41382664
131GPC6130.9940047961630710166893879860-93879869
132ZIC2130.92557848655411191599100634397-100634405, 100634407-100634408, 100634596-100634607, 100635008-100635010, 100637699-100637701, 100637707-100637711, 100637714-100637719, 100637722-100637734, 100637743-100637744, 100637798-100637855, 100637919-100637924
133PCCA130.9963420210333882187100741464-100741471
134COL4A1130.9994011976047935010110959369, 110959373-110959374
135F7130.365543071161058471335113760162-113760219, 113765004-113765164, 113768210-113768218, 113769974-113770037, 113770046, 113770054-113770104, 113771164-113771166, 113771787-113771829, 113771840-113771855, 113771864-113771889, 113772740-113772781, 113772806-113772858, 113772864-113772878, 113772894-113772972, 113772996-113773039, 113773079-113773092, 113773117-113773118, 113773135-113773217, 113773223-113773231, 113773249-113773322
136F10130.93933197000682891467113777170-113777179, 113798232, 113803335-113803341, 113803433-113803436, 113803496, 113803501, 113803506, 113803535, 113803573-113803591, 113803655-113803673, 113803680, 113803769-113803792
137GRK1130.98817966903073201692114325872-114325891
138PABPN1140.955483170466884192123790681-23790683, 23790696, 23790699, 23790710, 23790744, 23790890-23790891, 23790940-23790944, 23790951-23790977
139TGM1140.9902200488997624245424724306-24724309, 24724412-24724413, 24724713-24724715, 24731416-24731420, 24731451, 24731464-24731472
140FOXG1140.88503401360544169147029236624-29236626, 29236673, 29236678-29236680, 29236684-29236703, 29236775-29236789, 29236804-29236908, 29236923-29236944
141NKX2-1140.9917081260364810120636986865, 36986885, 36986893, 36988381-36988387
142MGAT2140.9903273809523813134450088122-50088133, 50088327
143C14orf104140.95107398568019123251450100679-50100688, 50100928-50100947, 50100997, 50101001-50101014, 50101089-50101093, 50101105, 50101216-50101240, 50101259-50101265, 50101270, 50101390, 50101494-50101500, 50101532-50101540, 50101562-50101569, 50101682-50101683, 50101693-50101694, 50101700-50101703, 50101708, 50101712-50101716
144GCH1140.938911022576364675355369133-55369135, 55369143, 55369189-55369205, 55369234, 55369261-55369284
145SYNE2140.9999034935340722072464580268-64580269
146POMT2140.998668442077233225377745191-77745193
147AMN140.1894273127753311041362103389045-103389066, 103390049-103390055, 103390064-103390073, 103390094-103390097, 103390109-103390153, 103390314-103390316, 103394765-103394804, 103394825-103394850, 103395095-103395128, 103395140-103395165, 103395186-103395294, 103395303-103395306, 103395458-103395474, 103395496-103395536, 103395551-103395595, 103395765-103395873, 103395992-103396029, 103396039-103396074, 103396268-103396334, 103396353-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396953, 103396960-103397017
148INF2140.7887953750105167703-105167724, 105167783-105167792, 105167856, 105167860-105167861, 105167864-105167901, 105167903-105167911, 105167935-105167947, 105167958-105167985, 105169518, 105169528-105169534, 105169550, 105169648, 105169651-105169674, 105169764-105169770, 105170256-105170272, 105172377, 105172380-105172385, 105172471-105172472, 105173375-105173380, 105173748-105173795, 105173878-105173883, 105173907-105174155, 105174181-105174203, 105174232-105174270, 105174285, 105174310-105174334, 105174801-105174804, 105174818-105174819, 105174886-105174918, 105175618-105175621, 105176028-105176033, 105176425-105176447, 105177274, 105177416-105177425, 105177470-105177507, 105177513, 105179168-105179169, 105179287-105179296, 105179299-105179315, 105179603-105179616, 105179830-105179831, 105179909-105179930, 105180603, 105180606-105180609, 105180729-105180733, 105180803, 105180842, 105181095-105181101
149NIPA1150.8202020202020217899023086234-23086411
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238RAD51C170.9911582670203410113156770057-56770066
239CA4170.962726304579343593958227396-58227429, 58233962
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241SCN4A170.998911268372356551162019311-62019316
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243USH1G170.9415584415584481138672915618-72915623, 72915669-72915671, 72915879-72915882, 72915976-72915978, 72916088-72916106, 72916173-72916176, 72916186-72916212, 72916302-72916310, 72916408, 72916493-72916496, 72916506
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247UNC13D170.9083409715857300327373826487-73826508, 73826659-73826665, 73826715-73826718, 73827382-73827390, 73827401-73827429, 73830757, 73831510-73831516, 73832165-73832171, 73832298-73832303, 73832337, 73832427-73832443, 73832747-73832777, 73838534-73838540, 73838667-73838672, 73838988-73838996, 73839134, 73839279-73839333, 73839569-73839600, 73840302-73840348, 73840408, 73840411
248SEPT9170.82907438955139301176175277631-75277636, 75483559-75483578, 75483616-75483634, 75484374-75484403, 75484859-75484861, 75484865-75484872, 75484900, 75484910-75484930, 75486824-75486838, 75486891-75486893, 75486900, 75486919-75486941, 75488754, 75488757, 75488792-75488798, 75493397-75493407, 75493441-75493448, 75494605-75494690, 75494696, 75494705-75494740
249GAA170.9087093389297261285978078701, 78078707-78078709, 78078712-78078740, 78082107-78082112, 78082191-78082205, 78082593-78082601, 78086457-78086459, 78086687-78086692, 78091456, 78091459-78091481, 78091992-78092156
250SGSH170.81577203445991278150978184251-78184275, 78184306, 78184367-78184373, 78184398-78184435, 78184486-78184496, 78184602, 78184721-78184740, 78184778-78184784, 78185946-78185955, 78185979-78186009, 78187664-78187684, 78187974-78187995, 78188419-78188420, 78188447-78188448, 78188489-78188510, 78188929-78188932, 78190858-78190871, 78194027-78194036, 78194071-78194097, 78194110-78194112
251ACTG1170.964539007092240112879477953-79477992
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253AFG3L2180.9624060150375990239412371609-12371612, 12371617, 12376992-12377011, 12377017-12377081
254NPC1180.9937451133698224383721166278-21166301
255LAMA3180.99060187962408941000221269648-21269675, 21269689-21269754
256DSG2180.999702114983621335729078238
257ATP8B1180.998136315228977375655315866-55315872
258CCBE1180.9844389844389819122157134020-57134021, 57134095-57134111
259TNFRSF11A180.9783900594273440185159992586-59992612, 59992620-59992632
260CTDP1180.95772695772696122288677439978-77440025, 77440041-77440075, 77440085-77440116, 77440128, 77440202, 77440228-77440232
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264NDUFS7190.814641744548291196421383937-1383941, 1390962, 1391139, 1393243-1393277, 1395397, 1395403-1395404, 1395414-1395487
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267MAP2K2190.852036575228617812034090596-4090609, 4090614, 4094457-4094485, 4095400-4095402, 4095412-4095416, 4095446-4095447, 4097324-4097341, 4099215-4099228, 4123781-4123872
268TUBB4190.9940074906367813356495635, 6495674-6495680
269C3190.987780448717956149926707130, 6707148-6707153, 6707208-6707221, 6713504-6713509, 6714013, 6714018, 6714032-6714063
270INSR190.9739696312364410841497122636, 7132169-7132186, 7142844, 7142847-7142860, 7152802-7152840, 7152882, 7152885, 7152895-7152897, 7163066-7163079, 7184384-7184390, 7184648, 7293859-7293860, 7293882, 7293897-7293901
271MCOLN1190.99942627653471117437598497
272PNPLA6190.991214859437753539847606922-7606926, 7615910-7615919, 7615923-7615942
273STXBP2190.992143658810331417827702053-7702066
274ADAMTS10190.9682971014492810533128669915-8669934, 8669940-8669943, 8670010, 8670049-8670053, 8670068-8670078, 8670139-8670178, 8670226-8670230, 8670511-8670516, 8670554-8670558, 8670568-8670575
275TYK2190.92676767676768261356410463623-10463628, 10463706, 10463718-10463721, 10464222-10464240, 10464248-10464249, 10464876-10464880, 10468448-10468452, 10468456-10468458, 10468471-10468473, 10468772-10468785, 10475719-10475724, 10476214-10476227, 10476232, 10476432-10476449, 10488890-10488899, 10488919-10488994, 10489009-10489082
276DNM2190.999617298124761261310923040
277LDLR190.998838559814173258311221339-11221341
278PRKCSH190.998109640831763158711558341-11558343
279MAN2B1190.997035573122539303612768275-12768279, 12768939-12768942
280CACNA1A190.93817311527722465752113318127-13318129, 13318177-13318225, 13318238, 13318244-13318260, 13318266-13318272, 13318275-13318276, 13318297, 13318330-13318331, 13318373-13318430, 13318436-13318483, 13318493-13318524, 13318529, 13318533-13318563, 13318566-13318569, 13318581, 13318590, 13318596-13318632, 13318646-13318716, 13318743-13318757, 13318759-13318762, 13318791-13318825, 13318862-13318867, 13319577-13319578, 13319601-13319616, 13319622, 13335501, 13616916-13616928, 13616935, 13616943, 13616953-13616955, 13617029
281NOTCH3190.9540625897215320696615281313-15281327, 15284977-15284995, 15285030, 15285088, 15285104-15285105, 15288813, 15299892, 15299952-15299953, 15302282, 15302556-15302568, 15302614-15302624, 15302635-15302638, 15302655-15302661, 15302669-15302670, 15302821, 15302826-15302864, 15302874, 15302888-15302895, 15302947-15302956, 15302960, 15302979-15303013, 15303048-15303050, 15303062-15303064, 15303067-15303085, 15303102-15303109, 15303225, 15303264, 15303280, 15303328-15303330, 15308352, 15311612-15311716
282JAK3190.9822222222222260337517940951-17940969, 17950377-17950389, 17953238-17953245, 17953322-17953325, 17953328, 17953331, 17953343-17953349, 17953843-17953845, 17953980-17953981, 17955184-17955185
283SLC5A5190.9725672877846853193217983280, 17983283-17983288, 17983354-17983356, 17984958-17985000
284IL12RB1190.93614881850176127198918177464, 18179312-18179321, 18179327-18179336, 18180412-18180413, 18180438, 18180470-18180500, 18186615-18186621, 18188388, 18197570-18197633
285COMP190.84608619173263350227418893880-18893898, 18893949-18893953, 18895001, 18895097-18895098, 18895172, 18896500-18896509, 18896610-18896619, 18896842, 18896856, 18896892-18896893, 18898321-18898326, 18899062-18899063, 18899073, 18899219-18899234, 18899296-18899301, 18899401-18899479, 18899521-18899528, 18899653, 18899660-18899661, 18899690-18899701, 18899971-18900023, 18900763-18900813, 18900850, 18900864-18900869, 18900919-18900923, 18901404-18901422, 18901659-18901687, 18901695
286CEBPA190.74837511606314271107733792521, 33792524, 33792710, 33792717-33792722, 33792751-33792779, 33792857-33792872, 33792914-33792930, 33792966-33792967, 33792971-33792973, 33792984-33792985, 33792998, 33793020-33793033, 33793053-33793076, 33793086-33793105, 33793143-33793166, 33793174-33793253, 33793283-33793312
287SCN1B190.950433705080554080735521725-35521764
288MAG190.93088782562467130188135790480-35790502, 35790548-35790554, 35790598-35790612, 35790646-35790652, 35790702-35790710, 35790747-35790753, 35791050, 35791101-35791161
289TYROBP190.97345132743363933936398422, 36398429-36398436
290SDHAF1190.965517241379311234836486344-36486351, 36486402-36486405
291RYR1190.972084408282074221511738987500-38987504, 38987529-38987532, 39055627-39055652, 39055692-39055711, 39055736-39055780, 39055801-39055810, 39055816-39055829, 39055832-39055834, 39055856-39055976, 39055993-39056076, 39056210-39056236, 39056272, 39056275, 39056280-39056291, 39056302-39056345, 39075614-39075618
292ACTN4190.9817251461988350273639138506-39138512, 39214355, 39214634, 39215109-39215126, 39216476-39216481, 39219957, 39220040-39220055
293DLL3190.9612277867528372185739993460, 39993532-39993538, 39993544-39993607
294PRX190.97720018239854100438640900407-40900412, 40900731-40900734, 40900737, 40903753, 40903756-40903757, 40909613-40909632, 40909648-40909665, 40909676-40909705, 40909750-40909767
295TGFB1190.9897698209718712117341854248-41854256, 41854263, 41854302, 41858926
296ATP1A3190.999184339314853367842471351-42471353
297BCAM190.9501854795972494188745312382-45312463, 45324050-45324055, 45324059, 45324062, 45324066-45324067, 45324070, 45324073
298BLOC1S3190.99671592775041260945683069, 45683072
299ERCC2190.9872974156811229228345867003, 45867509-45867521, 45867569, 45867719-45867725, 45873463-45873469
300SIX5190.9608108108108187222046268974-46268980, 46271564-46271569, 46271572-46271604, 46271798-46271799, 46271831-46271833, 46271885-46271901, 46271955-46271956, 46271972, 46272047, 46272074-46272088
301DMPK190.9772486772486843189046285538, 46285552-46285593
302FKRP190.90188172043011146148847259048, 47259138, 47259227-47259242, 47259253-47259255, 47259339-47259345, 47259354-47259388, 47259406-47259410, 47259470-47259493, 47259614-47259623, 47259626, 47259630, 47259639, 47259662-47259665, 47259669-47259674, 47259680, 47259730-47259757, 47259873, 47260177
303DBP190.3619631901840562497849134094-49134134, 49134199-49134201, 49134222-49134253, 49136701-49136711, 49136751-49136788, 49138837-49139221, 49139247, 49140134-49140204, 49140210-49140251
304BCAT2190.9838846480067919117949303266-49303269, 49303272, 49303337-49303344, 49303460-49303464, 49303476
305GYS1190.95121951219512108221449473887, 49494620-49494625, 49494673-49494679, 49494731-49494740, 49496256-49496271, 49496281-49496348
306MED25190.9745989304812857224450321627, 50321840, 50333205, 50333777-50333779, 50335406, 50338419, 50338429-50338432, 50338793-50338800, 50338827-50338842, 50339489, 50339662-50339663, 50340104-50340121
307MYH14190.9909998363606655611150753915, 50764859, 50764867-50764892, 50770206-50770232
308KCNC3190.85312225153914334227450823503, 50826385-50826404, 50826456-50826464, 50826593-50826596, 50831526-50831535, 50831680, 50831734-50831747, 50831900-50831902, 50831919-50832002, 50832090-50832124, 50832150-50832152, 50832190-50832339
309ETFB190.994236311239196104151857409-51857410, 51857413-51857416
310PRKCG190.9947468958930311209454393188, 54401837, 54401844-54401851, 54401875
311PRPF31190.9406666666666789150054628017, 54631448-54631467, 54631498, 54631501-54631503, 54631507-54631512, 54631551, 54631558-54631560, 54631565-54631572, 54631680-54631712, 54631736, 54632647, 54632672, 54632686-54632694, 54632727
312TNNI3190.977011494252871460955666178, 55666189-55666196, 55667656, 55668424-55668427
313TPO20.9425410421127816128021481155, 1481163-1481171, 1499914-1499916, 1520655-1520744, 1520752-1520754, 1544366-1544368, 1544417-1544420, 1544450-1544495, 1546224, 1546242
314RPS720.996581196581225853623407-3623408
315KLF1120.9727095516569242153910183844-10183885
316MYCN20.994982078853057139516082437-16082440, 16082926, 16082960-16082961
317MATN320.9931553730321710146120212185-20212189, 20212350-20212354
318APOB20.9997078586035641369221266771, 21266804-21266806
319HADHA20.9882198952879627229226414415-26414441
320OTOF20.73189856523191607599426685028-26685031, 26686917, 26689611, 26694007-26694018, 26695393-26695426, 26695501-26695503, 26696026-26696048, 26696062-26696068, 26696114, 26696152, 26696274-26696275, 26696307-26696355, 26696382-26696384, 26696393-26696395, 26696408-26696429, 26696878-26696911, 26696916, 26697381-26697497, 26697512-26697542, 26698232-26698242, 26698341-26698361, 26698802-26698906, 26699015-26699072, 26699082-26699083, 26699094-26699117, 26699126-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700617, 26702132-26702234, 26702240, 26702248-26702250, 26702341-26702357, 26702407-26702416, 26702440-26702500, 26702513-26702516, 26702521, 26703079, 26703129-26703130, 26703140-26703149, 26703172-26703179, 26703677-26703779, 26703803-26703824, 26703856-26703877, 26705274-26705292, 26705322-26705354, 26705366-26705418, 26706412-26706416, 26706419, 26707427-26707440, 26707475-26707477, 26712137-26712147, 26712548-26712554, 26739437
321C2orf7120.9971554176364111386729287923-29287933
322SPAST20.9529983792544687185132289002-32289043, 32289122, 32289194-32289227, 32289240-32289247, 32352017-32352018
323CYP1B120.91299019607843142163238301922-38301942, 38301984-38302010, 38302015-38302018, 38302193-38302204, 38302263-38302281, 38302290-38302303, 38302307, 38302433-38302476
324SOS120.9970014992503712400239224560, 39347524-39347534
325ABCG820.9940652818991112202244099366-44099371, 44100975-44100980
326LRPPRC20.9775388291517394418544222950-44223035, 44223045-44223046, 44223057-44223062
327EPCAM20.954497354497354394547596667-47596709
328MSH620.96497673279451143408348010413-48010441, 48010472-48010513, 48010524-48010559, 48010597-48010632
329DYSF20.9921383647798750636071847680-71847723, 71847734-71847739
330SPR20.99745547073791278673114607, 73114621
331MOGS20.9836913285600641251474688500, 74688800, 74688828, 74689007, 74689037-74689039, 74692172, 74692268-74692285, 74692294, 74692300-74692302, 74692350-74692360
332SUCLG120.9798270893371821104184686315, 84686322-84686341
333EIF2AK320.9934347955834122335188926613-88926616, 88926692-88926697, 88926700-88926701, 88926711-88926712, 88926730-88926735, 88926743-88926744
334TMEM12720.99302649930265571796931087-96931091
335ZAP7020.997311827956995186098340752, 98349671-98349674
336RANBP220.973540051679592569675109357110-109357124, 109363251-109363254, 109365376, 109367720-109367743, 109368095-109368114, 109374952, 109382787-109382793, 109383084-109383113, 109383186-109383210, 109383672-109383713, 109383980-109384010, 109384042-109384048, 109384159-109384180, 109384393-109384412, 109384628-109384634
337MERTK20.99933000112656317, 112786425-112786426
338GLI220.9951690821256234761121729609-121729623, 121746161-121746164, 121746546-121746549
339BIN120.98877665544332201782127864436-127864448, 127864513-127864519
340PROC20.95238095238095661386128178881-128178894, 128178931-128178945, 128180667-128180673, 128180688, 128180697-128180723, 128180877, 128186170
341CFC120.77380952380952152672131279591, 131279638, 131279641-131279642, 131280363-131280418, 131280426, 131280441, 131280452-131280477, 131280756-131280771, 131280796-131280809, 131280813-131280815, 131280819, 131280826, 131280829, 131280834, 131285317-131285336, 131285374, 131285377, 131285381-131285383, 131285388, 131285402
342RAB3GAP120.9996605566870312946135888281
343GALNT320.9726603575184521902166615333-166615334, 166615957, 166621432-166621447, 166621493-166621499, 166627003-166627014, 166627115-166627128
344SCN1A20.9996664999166225997166895933-166895934
345ITGA620.9984737484737553276173292517-173292521
346CHN120.99275362318841101380175869622-175869631
347AGPS20.99140111279717171977178257522-178257538
348COL3A120.9997727789138814401189872616
349HSPD120.9953542392566881722198352664-198352671
350BMPR220.9996791786974713117203420802
351NDUFS120.9995421245421212184207017218
352PNKD20.9974093264248731158219204547-219204549
353WNT10A20.99122807017544111254219745747-219745757
354DES20.96178343949045541413220283215-220283244, 220283259, 220283271-220283282, 220283285, 220283289, 220283644-220283645, 220283700-220283701, 220283705-220283708, 220283711
355OBSL120.962045334739062165691220416839-220416846, 220417329, 220435388, 220435408, 220435588, 220435620-220435636, 220435646-220435647, 220435652, 220435663-220435671, 220435687-220435708, 220435719-220435788, 220435800-220435833, 220435864-220435869, 220435875, 220435882-220435884, 220435892-220435908, 220435911, 220435934-220435954
356COL4A420.9998025276461315064227968768
357COL4A320.98982645122681515013228029444-228029446, 228029474-228029521
358CHRND20.98455598455598241554233390931-233390947, 233393654-233393656, 233396311, 233396335-233396336, 233398765
359CHRNG20.999356499356511554233404702
360COL6A320.99695825466751299534238244860-238244887, 238280448
361D2HGDH20.9661558109834531566242707190-242707191, 242707203, 242707217-242707224, 242707308-242707342, 242707375-242707381
362C20orf54200.99148936170213121410741764-741774, 746345
363AVP200.739393939393941294953063348-3063357, 3063389-3063396, 3063643-3063682, 3063691-3063735, 3063765-3063790
364PANK2200.9743140688854417133869962-3869971, 3870099-3870100, 3870104, 3870124-3870136, 3870260-3870277
365JAG1200.998906207273724365710654172-10654174, 10654177
366THBD200.9924768518518513172823029551-23029559, 23029838-23029841
367SNTA1200.86297760210804208151832000381, 32000396-32000424, 32031117-32031126, 32031140-32031186, 32031226-32031227, 32031230, 32031252-32031268, 32031289-32031290, 32031314-32031378, 32031393-32031426
368ADA200.999084249084251109243257773
369CTSA200.92718770875084109149744519965-44520008, 44520208, 44520221, 44520227, 44520236-44520269, 44520318-44520320, 44520556-44520566, 44520571-44520573, 44520608, 44523633-44523639, 44523766-44523767, 44526728
370SALL4200.9895635673624333316250407003, 50407115-50407123, 50407237, 50407295, 50407543-50407552, 50407917, 50408336-50408344, 50418901
371GNAS200.97696476964771773857415183, 57415189, 57415324-57415330, 57415607, 57415813-57415819
372GNAS200.87604367373154386311457428438-57428447, 57428461-57428464, 57428503, 57429075, 57429082-57429100, 57429145, 57429148, 57429156, 57429186, 57429203-57429217, 57429287-57429288, 57429315, 57429387-57429418, 57429434-57429456, 57429470-57429494, 57429508-57429531, 57429583-57429607, 57429614-57429629, 57429651-57429700, 57429719, 57429749-57429767, 57429809-57429858, 57429967, 57429973-57430010, 57430055-57430078, 57430265
373COL9A3200.84184914841849325205561448417-61448468, 61448480-61448494, 61448926-61448985, 61451281-61451294, 61451332, 61452541-61452544, 61452549-61452550, 61452553-61452555, 61453499-61453501, 61453504-61453505, 61455797-61455802, 61455821, 61455824-61455848, 61456320-61456373, 61457559-61457569, 61457605, 61458150-61458157, 61458604, 61458615, 61458625, 61459311-61459317, 61460328, 61461144-61461170, 61461712-61461727, 61467571-61467572, 61467659-61467665
374CHRNA4200.19479830148621517188461978090-61978189, 61978197-61978215, 61981005-61981499, 61981509-61981532, 61981554, 61981582, 61981585-61981733, 61981745-61981800, 61981840, 61981876-61981897, 61981907, 61981915, 61981921, 61981932-61981945, 61981954-61981983, 61982004-61982053, 61982078-61982126, 61982149-61982157, 61982180-61982191, 61982197, 61982204-61982208, 61982216-61982220, 61982248-61982275, 61982279, 61982302, 61982305-61982329, 61982347-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
375KCNQ2200.503245513554791301261962037997-62038067, 62038079-62038098, 62038142-62038166, 62038191-62038210, 62038239-62038240, 62038271-62038299, 62038307-62038378, 62038387-62038405, 62038409, 62038411-62038420, 62038425, 62038483-62038490, 62038502-62038543, 62038573-62038581, 62038605-62038618, 62038627-62038628, 62038669-62038674, 62038679-62038681, 62038704-62038727, 62039777-62039800, 62039862, 62039873-62039875, 62046273-62046274, 62046278-62046280, 62059756, 62059771-62059788, 62065188, 62065205, 62065208, 62065248-62065256, 62069978-62069991, 62070038-62070073, 62070951-62070972, 62071021-62071026, 62071029-62071031, 62073759-62073884, 62076012-62076187, 62076591-62076717, 62078100-62078125, 62078138-62078139, 62078166-62078190, 62103521-62103816
376SOX18200.25627705627706859115562679519-62679522, 62679538-62679569, 62679579-62679591, 62679611-62679622, 62679753-62679757, 62679765-62679766, 62679774-62679819, 62679839-62679858, 62679890-62679900, 62679923-62679973, 62679979-62679998, 62680024-62680234, 62680242-62680315, 62680512-62680869
377APP210.998702983138783231327542936-27542938
378IFNGR2210.9280078895463573101434775850-34775922
379RCAN1210.974967061923581975935987182-35987195, 35987244-35987247, 35987270
380RUNX1210.9979209979213144336164452-36164454
381CLDN14210.981944444444441372037833593-37833605
382CSTB210.939393939393941829745196098, 45196134-45196150
383AIRE210.48107448107448850163845705890-45705940, 45705959-45705962, 45705969-45706009, 45706473-45706511, 45706554, 45706558, 45706585, 45706603-45706614, 45706864-45706874, 45706890, 45706913-45706938, 45706963, 45706967, 45706974-45706986, 45707016, 45707465-45707474, 45708228, 45708247-45708274, 45709540-45709626, 45709638-45709685, 45709892-45709900, 45709906, 45711005, 45711014, 45711017-45711021, 45711028-45711046, 45711068-45711088, 45712230, 45712244-45712269, 45712883-45712929, 45712935-45712936, 45712946, 45712949-45713013, 45713036-45713058, 45713672-45713700, 45713722-45713759, 45713772, 45714284-45714386, 45716266-45716293, 45716302-45716328, 45717542-45717565
384ITGB2210.93679653679654146231046306801, 46308608-46308619, 46308641-46308687, 46308711-46308717, 46308720, 46308723-46308729, 46308746-46308749, 46308755-46308773, 46308778, 46308781, 46308800-46308810, 46309208, 46309374, 46309992-46310014, 46310059, 46310123, 46311753, 46311759-46311761, 46311822, 46311836-46311838
385COL18A1210.572649572649572250526546875475-46875477, 46875481-46875496, 46875695-46875697, 46875892-46875901, 46876052-46876066, 46876204-46876222, 46876253, 46876256, 46876285-46876287, 46876294-46876298, 46876365, 46876406-46876411, 46876451-46876473, 46876527-46876567, 46876609-46876641, 46876664-46876675, 46876778-46876789, 46888220-46888267, 46888472-46888478, 46888523-46888531, 46888628-46888659, 46895434, 46896292-46896296, 46896391-46896392, 46897777, 46900642, 46900654-46900664, 46906780, 46906785-46906787, 46906798-46906803, 46906815-46906845, 46906872-46906874, 46909426-46909427, 46910189-46910227, 46910234-46910260, 46910750-46910785, 46911139-46911143, 46911162-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914819, 46914821-46914829, 46915272-46915314, 46915340-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925880, 46927475-46927507, 46929270-46929279, 46929288-46929336, 46929343, 46929355, 46929359-46929395, 46929416-46929417, 46929421-46929479, 46929484, 46929502-46929515, 46929978-46930175, 46931025-46931140, 46932117-46932118, 46932126-46932128, 46932143-46932287, 46932298-46932301, 46932306
386COL6A1210.665370910268871033308747401765-47401861, 47402548-47402645, 47402660-47402677, 47404183-47404296, 47404307, 47404314-47404380, 47406440-47406446, 47406488-47406539, 47406580-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47409012-47409049, 47409524-47409539, 47409564, 47409688-47409692, 47410172-47410198, 47410292-47410330, 47410687-47410689, 47410910-47410916, 47410931, 47410942-47410954, 47412099-47412109, 47412670-47412671, 47414081-47414103, 47417345-47417353, 47417620-47417623, 47417662, 47418035-47418046, 47418067, 47418312-47418320, 47418837-47418838, 47418843-47418846, 47418873, 47419067-47419077, 47419123-47419132, 47419594, 47419598-47419606, 47422241-47422257, 47422453-47422465, 47422561-47422567, 47423513-47423554, 47423658, 47423661-47423663
387COL6A2210.527450980392161446306047531391-47531397, 47531442-47531498, 47531922-47531956, 47532007-47532013, 47532220, 47532253-47532258, 47532289-47532330, 47532432, 47532484-47532491, 47532718-47532722, 47535923-47535927, 47536291-47536299, 47536579-47536591, 47536696-47536710, 47536714, 47537314-47537367, 47537836-47537850, 47538533-47538590, 47538954-47538960, 47538980-47539006, 47539702-47539764, 47540429-47540462, 47540483-47540491, 47540975-47541022, 47541470-47541489, 47541505-47541532, 47542035-47542059, 47542410-47542445, 47542789-47542851, 47544805-47544830, 47545180-47545194, 47545392, 47545444-47545484, 47545511-47545531, 47545699-47545720, 47545768, 47545774, 47545785, 47545794-47545795, 47545807, 47545857, 47545860-47545866, 47545872-47545876, 47545887, 47545892, 47545913-47545931, 47545937-47546014, 47546021-47546025, 47546044-47546058, 47546066, 47546071-47546088, 47546111-47546137, 47551868-47551869, 47551892-47551930, 47551949-47552083, 47552109-47552114, 47552120-47552152, 47552163-47552165, 47552179-47552185, 47552228-47552423, 47552448-47552463
388COL6A2210.228070175438626434247552183-47552185, 47552228-47552423, 47552448-47552463, 47552468-47552475, 47552484-47552524
389FTCD210.0682656826568271515162647556903-47556940, 47556947-47556987, 47557153-47557197, 47557206-47557248, 47558422-47558470, 47558473, 47558493-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570050, 47570052-47570055, 47570061-47570078, 47570096-47570164, 47570302-47570383, 47570408-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574213, 47574241-47574246, 47575384-47575437
390PCNT210.9998002197582721001147786711, 47848357
391PRODH220.87243483083749230180318900755-18900782, 18904410-18904420, 18905978, 18912582-18912610, 18923528-18923589, 18923613-18923666, 18923688-18923704, 18923708-18923727, 18923730-18923732, 18923745, 18923759-18923762
392GP1BB220.02093397745571760862119711093-19711102, 19711377-19711623, 19711637-19711987
393TBX1220.70497311827957439148819748428-19748599, 19748613-19748636, 19748641, 19748647-19748648, 19748651-19748654, 19748657, 19748663-19748674, 19748676, 19748682-19748713, 19748751-19748755, 19753425-19753432, 19753470-19753471, 19753484, 19753499-19753513, 19753912, 19753917-19753919, 19753951-19753952, 19753963-19754003, 19754013-19754040, 19754101-19754109, 19754177-19754179, 19754226-19754230, 19754260-19754308, 19754348-19754365
394SMARCB1220.9844559585492218115824129394-24129396, 24129399-24129402, 24129414-24129418, 24135853, 24175773, 24175825-24175828
395CHEK2220.91311754684838153176129083899-29083916, 29083947-29083966, 29085158-29085171, 29090020-29090057, 29091743-29091791, 29091840-29091841, 29126411-29126421, 29126455
396NF2220.9664429530201360178829999988-30000021, 30000059-30000084
397MYH9220.9983001869794310588336688091-36688100
398TRIOBP220.97774020850944158709838119745, 38119749-38119751, 38119754-38119757, 38119763, 38119766-38119767, 38119771, 38119879-38119921, 38120029-38120052, 38120176-38120178, 38120426-38120432, 38122452, 38122462, 38129396, 38129399, 38129414-38129416, 38130524-38130526, 38130534-38130536, 38130595, 38130882-38130919, 38131053, 38161801-38161802, 38165147-38165150, 38165176-38165185
399SOX10220.998572448251252140138379562-38379563
400PLA2G6220.2842535787321135048938508274-38508302, 38508308, 38508511-38508584, 38509499-38509551, 38509561-38509599, 38509610-38509648, 38509667-38509694, 38509700-38509708, 38509717, 38509732, 38509735-38509736, 38509744-38509747, 38509762-38509818, 38509843-38509855
401PLA2G6220.79843040066088488242138508173-38508174, 38508180-38508181, 38508184, 38508201-38508209, 38508226, 38508238-38508239, 38508265-38508302, 38508308, 38508511-38508584, 38509499-38509551, 38509561-38509599, 38509610-38509648, 38511586-38511606, 38511626-38511666, 38511685-38511688, 38512082-38512106, 38512141-38512158, 38512179-38512218, 38516886-38516891, 38519102-38519128, 38519146-38519151, 38519178-38519189, 38519250-38519265, 38528899-38528909
402TNFRSF13C220.4684684684684729555542321371-42321399, 42322105-42322127, 42322135, 42322148, 42322167, 42322174, 42322177-42322180, 42322204-42322335, 42322661-42322663, 42322678-42322777
403CYB5R3220.976821192052982190643045301-43045321
404ATXN10220.994397759103648142846068021-46068028
405TRMU220.89652448657188131126646731709-46731710, 46731713, 46731722-46731725, 46748018-46748019, 46748208-46748214, 46751341-46751347, 46751389-46751403, 46751416-46751443, 46751457, 46751466-46751477, 46751887, 46751901-46751906, 46751913, 46751933-46751934, 46751963-46751966, 46752739-46752763, 46752891-46752903
406ALG12220.9829584185412425146750301491-50301498, 50303635, 50307138-50307143, 50307276-50307285
407MLC1220.9585537918871347113450502467-50502512, 50502560
408TYMP220.58247066942719605144950964205-50964229, 50964236-50964239, 50964249-50964347, 50964430-50964570, 50964675-50964718, 50964725-50964781, 50964794-50964905, 50965025-50965056, 50965079, 50965083-50965087, 50965092, 50965133-50965155, 50967736-50967749, 50967985-50968024, 50968088-50968094
409ARSA220.9665354330708751152451063665-51063674, 51063830-51063834, 51063872, 51064376-51064379, 51064465-51064481, 51064592-51064598, 51065806-51065812
410SHANK3220.588863463005342156524451113070-51113132, 51113476-51113579, 51113593-51113597, 51113609-51113679, 51115050-51115058, 51115075-51115121, 51117020-51117060, 51117070-51117074, 51117106-51117121, 51117202-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203-51133225, 51133257-51133301, 51133355-51133393, 51133404-51133438, 51133462-51133476, 51135671-51135696, 51135702-51135719, 51135951-51136143, 51137118-51137128, 51137196-51137201, 51137211-51137224, 51137230-51137231, 51143261-51143264, 51143268-51143273, 51143288-51143290, 51144557, 51144569-51144572, 51158617, 51158620-51158623, 51158662, 51158665-51158671, 51158753-51158991, 51159013-51159019, 51159031, 51159062-51159066, 51159073, 51159088, 51159151-51159161, 51159186-51159204, 51159252-51159269, 51159295-51159299, 51159303-51159304, 51159321-51159328, 51159364-51159444, 51159460-51159477, 51159601-51159602, 51160217-51160221, 51160229, 51160233, 51160562-51160565, 51169149-51169155, 51169162, 51169178-51169244, 51169250-51169297, 51169307, 51169320-51169325, 51169382-51169383, 51169395-51169405, 51169419-51169438, 51169445, 51169462-51169489, 51169517-51169580, 51169631-51169635, 51169638, 51169645-51169687, 51169709-51169734
411FANCD230.97667572463768103441610088264-10088311, 10088340-10088346, 10089720-10089735, 10107087-10107093, 10107165-10107171, 10114937-10114947, 10115015-10115021
412VHL30.8084112149532712364210183534-10183563, 10183654-10183674, 10183706-10183753, 10183784-10183807
413RAF130.99948638931691194712641273
414TMIE30.7494553376906311545946742860-46742903, 46742956-46742988, 46743001, 46743013-46743024, 46743053-46743066, 46747324-46747334
415TMIE30.88959660297245247146742978-46742988, 46743001, 46743013-46743024, 46743053-46743066, 46747324-46747334, 46751074-46751076
416TREX130.9765765765765826111048508043, 48508049, 48508101-48508103, 48508107, 48508312-48508319, 48508633, 48508894-48508904
417COL7A130.9981890209394516883548612898, 48626077, 48627049, 48627132-48627144
418SLC25A2030.95143487858724490648936184-48936227
419LAMB230.999073559384845539749169112-49169116
420HYAL130.9824159021406723130850338070, 50338130, 50338135-50338137, 50338496-50338508, 50339610, 50339622, 50339633, 50340221, 50340268
421TNNC130.98353909465021848652486515-52486521, 52488016
422TKT30.9759615384615445187253289853-53289886, 53289927-53289931, 53289938-53289943
423FLNB30.9879626072480594780957994371-57994397, 57994421-57994455, 57994520-57994548, 57994582-57994583, 58134011
424ATXN730.93868921775899174283863898282-63898326, 63898338, 63898361-63898363, 63898427-63898551
425ARL13B30.9487179487179566128793758796, 93761859-93761865, 93761872, 93761880-93761888, 93761891-93761893, 93761914-93761927, 93761981-93761982, 93762008-93762020, 93762030, 93762041, 93762047-93762056, 93762081-93762084
426CPOX30.9714285714285739136598311884, 98312019-98312020, 98312146-98312147, 98312204-98312210, 98312250-98312252, 98312259-98312282
427NPHP330.98196844477836723993132438631-132438648, 132440848, 132441026-132441071, 132441101-132441107
428FOXL230.877099911582671391131138664606-138664632, 138664663-138664671, 138664818-138664912, 138665048-138665055
429CLCN230.99555061179088122697184071969-184071970, 184072341-184072349, 184075427
430OPA130.999015748031533048193355012-193355014
431CPN230.996947496947551638194062193-194062197
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433IDUA40.2431192660550514851962980873-981004, 981013-981030, 981597-981688, 981696-981737, 994484-994485, 994681, 994688-994689, 994694, 994712-994754, 994765-994768, 995269-995300, 995328-995351, 995467-995489, 995496-995550, 995596-995669, 995770-995777, 995784-995789, 995796-995827, 995848-995949, 996058-996061, 996069-996077, 996085, 996102-996112, 996131-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997406, 997815-997821, 997843-997898, 998048-998054, 998059, 998088-998109
434FGFR340.49402554594149122824271795662-1795729, 1795757-1795770, 1800981-1801178, 1801186-1801247, 1801474-1801539, 1803101-1803124, 1803133-1803170, 1803208-1803263, 1803347-1803410, 1803416-1803470, 1803562-1803573, 1803579, 1803597-1803653, 1803665-1803676, 1803683-1803752, 1804660-1804685, 1804721-1804752, 1806082-1806099, 1806161, 1806232-1806241, 1806551-1806576, 1806641-1806647, 1806650-1806651, 1806660, 1806663, 1806676-1806696, 1807083-1807109, 1807149-1807151, 1807286-1807289, 1807307, 1807375-1807396, 1807529, 1807545, 1807564-1807567, 1807618, 1807652-1807656, 1807659-1807661, 1807666, 1807782-1807786, 1807800-1807802, 1807852-1807854, 1807860, 1807894, 1807988-1808006, 1808045, 1808050-1808053, 1808285-1808292, 1808317-1808337, 1808385-1808410, 1808556-1808586, 1808602-1808612, 1808619, 1808843-1808870, 1808912, 1808921-1808925, 1808931-1808932, 1808948-1808989
435SH3BP240.982767905223483218572819963-2819967, 2820013-2820015, 2820021-2820023, 2820073-2820093
436HTT40.989500477251039994293076633-3076634, 3076638, 3076641-3076650, 3076653, 3076660-3076673, 3076676-3076682, 3076705, 3076708-3076728, 3076797-3076810, 3240301-3240320, 3241593-3241599, 3241732
437DOK740.5597359735973666715153465103-3465104, 3465123-3465156, 3465233-3465278, 3475133-3475145, 3475229-3475230, 3478074-3478098, 3478114-3478139, 3478183-3478195, 3478221, 3478231-3478232, 3478238, 3487276-3487306, 3487317-3487323, 3494486-3494501, 3494557, 3494563-3494576, 3494588-3494685, 3494707-3494728, 3494749-3494798, 3494806-3494861, 3494932, 3494945-3495000, 3495019, 3495028-3495135, 3495155-3495195
438DOK740.384094754653133645913494489-3494501, 3494557, 3494563-3494576, 3494588-3494685, 3494707-3494728, 3494749-3494798, 3494806-3494861, 3494932, 3494945-3495000, 3495019, 3495028-3495079
439EVC40.99966431688486129795713193
440COQ240.99913419913421115584205872
441CDS140.994949494949497138685504601-85504607
442PKD240.9831441348469249290788928901-88928921, 88928933, 88928946, 88928948-88928973
443CISD240.9534313725490219408103808512-103808522, 103808580-103808587
444SDHA50.781954887218054351995218471-218485, 218503-218504, 218507-218510, 223597-223598, 223682-223683, 224475, 225589-225610, 225633-225677, 225998-226001, 226114-226141, 228319-228325, 228378-228399, 233592-233598, 233689-233697, 233733-233734, 236553-236559, 236673-236681, 240498-240529, 240577, 251107-251114, 251143-251149, 251190-251218, 251500-251546, 251562-251583, 254526-254532, 254571-254612, 256449-256475, 256511-256535
445SLC6A1950.8146981627296635319051201766-1201769, 1201779-1201876, 1201885-1201967, 1208877, 1208889, 1208952-1208995, 1210559-1210560, 1210565-1210566, 1212572-1212578, 1213596-1213633, 1214068-1214094, 1219018, 1219029-1219037, 1219187-1219222
446TERT50.66843189173286112733991254575, 1258763-1258766, 1264523-1264524, 1264565, 1268635-1268641, 1268693-1268699, 1271254, 1271257-1271260, 1271291-1271299, 1272351-1272383, 1278780-1278829, 1279421-1279455, 1279477-1279483, 1279510-1279545, 1279557-1279585, 1280287-1280290, 1280335, 1280338-1280339, 1280342-1280375, 1280451-1280453, 1293593-1293620, 1293638-1293640, 1293644-1293660, 1293691, 1293716-1293736, 1293750, 1293759-1293764, 1293787-1293804, 1293820-1293856, 1293906-1293909, 1293930-1293940, 1293960-1294005, 1294031-1294035, 1294068-1294083, 1294086, 1294102-1294154, 1294160-1294197, 1294293-1294302, 1294310, 1294317, 1294345-1294376, 1294428-1294450, 1294458-1294512, 1294550-1294590, 1294598-1294766, 1294886-1295104
447SLC6A350.6521739130434864818631406316-1406383, 1409141-1409164, 1409169-1409180, 1409191-1409203, 1409216-1409240, 1409836-1409867, 1409888, 1409891-1409961, 1411358-1411374, 1411387-1411470, 1414806-1414930, 1416213-1416219, 1416248-1416259, 1416262, 1416306-1416316, 1420684-1420687, 1420706-1420713, 1420741-1420758, 1420796-1420818, 1422003-1422068, 1422075-1422094, 1422118-1422119, 1422126-1422129
448SDHA50.9724770642201893271589426-1589432, 1594543-1594544
449FAM134B50.9906291834002714149416616818, 16616831-16616834, 16616899-16616907
450NIPBL50.9933452168746356841537036481-37036482, 37036571, 37036586-37036589, 37048635-37048677, 37048757-37048760, 37064025-37064026
451ERCC850.997481108312343119160200650-60200652
452SMN250.99887005649718188569345539
453SMN250.99887005649718188570220957
454HEXB50.995212447636158167173981254-73981257, 73981260-73981263
455LMNB150.856331629755822531761126113201-126113218, 126113228-126113314, 126113375-126113379, 126113391-126113403, 126113410-126113495, 126113502-126113530, 126113555-126113559, 126168393-126168402
456FBN250.99404966243277528739127873049-127873071, 127873268-127873296
457MYOT50.98864395457582171497137221833, 137221859, 137221879-137221882, 137221886-137221889, 137222957-137222963
458TCOF150.99127640036731384356149748295, 149776058-149776070, 149777991-149778014
459NIPAL450.9950035688793771401156887348-156887354
460NKX2-550.997948717948722975172661920-172661921
461MSX250.9427860696517446804174151665-174151669, 174151731-174151733, 174151816-174151833, 174151890-174151909
462F1250.9570446735395225582176830255-176830271, 176830314-176830321
463F1250.918831168831171501848176830255-176830271, 176830314-176830321, 176830497-176830537, 176830581-176830602, 176830860-176830866, 176830878-176830893, 176830939, 176831059-176831062, 176831359, 176831368-176831374, 176831514-176831537, 176831569, 176832973
464GRM650.98785117691724322634178421461, 178421658-178421688
465SQSTM150.93424036281179871323179247937-179247964, 179248001, 179248018, 179248037-179248052, 179248062-179248080, 179248120-179248141
466FLT450.4086021505376324204092180043444-180043476, 180043947-180043954, 180045771-180045805, 180045817, 180045824-180045856, 180045864-180045869, 180045880-180045920, 180046021-180046102, 180046253-180046269, 180046308-180046366, 180046665-180046769, 180047187-180047240, 180047243-180047244, 180047261-180047308, 180047614-180047616, 180047619-180047635, 180047647-180047649, 180047652-180047656, 180047682-180047715, 180047876-180047879, 180047891-180047896, 180047909-180047921, 180047944-180047971, 180047996-180048007, 180048110-180048117, 180048120-180048122, 180048161-180048197, 180048221-180048252, 180048542-180048573, 180048581-180048587, 180048597-180048632, 180048646-180048660, 180048688, 180048692-180048709, 180048712, 180048718, 180048723-180048726, 180048763-180048773, 180048794-180048838, 180048858-180048894, 180049779-180049780, 180049802-180049839, 180050935-180050993, 180051012-180051061, 180052880-180052949, 180052971-180052976, 180052979, 180052982-180053031, 180053111-180053265, 180055882-180055892, 180055900-180055963, 180055981, 180055985-180055986, 180055996-180055999, 180056259-180056280, 180056290-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057559, 180057566-180057799, 180058682-180058778, 180076488-180076545
467FOXC160.8495788206979525016621610795-1610845, 1610875-1610893, 1611094-1611096, 1611183-1611191, 1611277-1611304, 1611342, 1611424-1611432, 1611447, 1611502-1611528, 1611549-1611604, 1611684-1611685, 1611693-1611702, 1611721-1611723, 1611728-1611735, 1611797-1611804, 1611814, 1611817-1611825, 1612027, 1612033, 1612142-1612144
468TUBB2B60.973094170403593613383225046, 3225055, 3225407-3225416, 3225441-3225464
469ATXN160.992238562091519244816327865-16327867, 16327882, 16327885, 16327888, 16327891, 16327894, 16327897, 16327903, 16327906-16327909, 16327915-16327918, 16327924
470HLA-H60.98933333333333875029856423-29856430
471NEU160.9847756410256419124831827582, 31827585-31827596, 31829835-31829840
472TNXB60.94401244167963108192931976896-31976929, 31977388-31977394, 31977528, 31977835-31977841, 31977995-31978001, 31978498-31978528, 31979422-31979428, 31979476-31979482, 31980130-31980136
473CYP21A260.9670698924731249148832006211-32006234, 32006317, 32006337, 32006886, 32007846-32007852, 32008448-32008454, 32008759-32008766
474TNXB60.99387226019326781272932009631-32009664, 32010123-32010129, 32010569-32010575, 32010729-32010735, 32011235, 32011248, 32012276-32012282, 32012330-32012336, 32012984-32012990
475HLA-DQA160.962239583333332976832609169, 32609181, 32609969, 32610387-32610406, 32610436, 32610453, 32610461, 32610495, 32610534-32610535
476HLA-DQB160.7251908396946621678632629124-32629173, 32629224-32629234, 32629859, 32629920, 32629935, 32629955, 32632575-32632621, 32632640-32632652, 32632659-32632660, 32632664-32632666, 32632678-32632759, 32634355-32634358
477COL11A260.999040491268475521133140135-33140138, 33141161
478SYNGAP160.95734126984127172403233388042-33388108, 33411431-33411435, 33411509-33411555, 33411622-33411624, 33411649-33411698
479FANCE60.995654872749847161135420323-35420327, 35420411, 35420414
480TULP160.9699201964395349162935479574, 35479583, 35479962-35480008
481MOCS160.7854526425955410191139893422-39893486, 39893495-39893589, 39895068-39895317
482PEX660.9738362215426477294342946469-42946471, 42946517-42946545, 42946648-42946683, 42946728, 42946733-42946734, 42946744-42946745, 42946833-42946836
483RSPH960.924187725631776383143612836-43612883, 43612904-43612917, 43612921
484RUNX260.994252873563229156645390446-45390448, 45390487-45390492
485MUT60.9955614735907710225349409623-49409632
486EYS60.999788023317442943565016974-65016975
487OSTM160.98606965174129141005108395728, 108395742-108395746, 108395805-108395812
488GJA160.9939077458659771149121768922-121768928
489LAMA260.9997863932500329363129704272, 129704279
490PEX760.997942386831282972137143897, 137143905
491STX1160.991898148148157864144507999-144508005
492TBP60.901960784313731001020170871010-170871109
493LFNG70.1903508771929892311402559496-2559797, 2559808-2559927, 2564329-2564375, 2564853-2564875, 2564900-2564906, 2565054-2565094, 2565111-2565153, 2565177-2565201, 2565340-2565344, 2565355-2565404, 2565878-2565957, 2565971-2566006, 2566015-2566043, 2566470-2566485, 2566512-2566547, 2566780-2566842
494PMS270.962533796832759725896017298, 6027017, 6027242-6027243, 6029437-6029448, 6038763-6038770, 6042123-6042172, 6048628-6048650
495TWIST170.6453201970443321660919156566-19156567, 19156620-19156646, 19156669-19156676, 19156683-19156687, 19156702, 19156714-19156738, 19156789-19156936
496HOXA170.997023809523813100827135317-27135319
497HOXA1370.5929734361611475116727238775-27238784, 27238847-27238848, 27238858, 27238909-27238910, 27238925-27238935, 27239074-27239100, 27239103-27239107, 27239140-27239143, 27239146, 27239153-27239160, 27239170-27239181, 27239193-27239224, 27239255-27239485, 27239491-27239616, 27239637-27239638, 27239690
498GLI370.9968374446552815474342005104-42005113, 42005246-42005250
499GCK70.88936473947181155140144184805-44184807, 44186068-44186074, 44186082-44186083, 44186086, 44186100-44186153, 44186187-44186197, 44187249-44187270, 44187385-44187400, 44191870-44191877, 44191896, 44191905-44191910, 44192013, 44192955-44192975, 44198708-44198709
500CCM270.85168539325843198133545039933-45039962, 45113089-45113117, 45113141-45113170, 45113870-45113873, 45113884-45113897, 45113900-45113925, 45115400-45115431, 45115458-45115469, 45115514-45115530, 45115564, 45115607-45115609
501EGFR70.9823837049270664363355086971-55087032, 55220303-55220304
502GUSB70.998977505112472195665446999-65447000
503ASL70.7584229390681337139565547915, 65548067, 65548075-65548089, 65551585-65551588, 65551605, 65551631-65551649, 65551735-65551766, 65551772, 65551792-65551807, 65552762, 65553803-65553820, 65553823, 65553869-65553895, 65554086-65554120, 65554263-65554264, 65554288-65554296, 65554299-65554313, 65554599-65554612, 65554657-65554679, 65557002-65557009, 65557024, 65557041-65557044, 65557560-65557618, 65557755-65557764, 65557805-65557814, 65557840, 65557851-65557853, 65557864-65557865, 65557878-65557881
504KCTD770.855172413793112687066094052-66094053, 66094059-66094103, 66094117-66094195
505SBDS70.974767596281541975366456147-66456165
506NCF170.905454545454557882572637917, 72639955-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648730-72648750
507ELN70.9448275862069120217573442518-73442586, 73456990, 73457004, 73462870-73462872, 73466259-73466281, 73466308, 73467493-73467507, 73477672-73477675, 73477951-73477953
508NCF170.9488491048593460117374193665-74193671, 74197347, 74202424-74202432, 74202904, 74202907, 74202911, 74202926, 74202933, 74202938, 74202953-74202955, 74202989-74203018, 74203041-74203043, 74203383
509POR70.72393538913363564204375609764, 75610389-75610392, 75612851-75612856, 75613068-75613083, 75614095-75614107, 75614179-75614268, 75614398-75614435, 75614469-75614475, 75614488-75614525, 75614909-75615031, 75615039-75615042, 75615071-75615086, 75615103-75615132, 75615144-75615167, 75615245-75615261, 75615264-75615279, 75615287, 75615316-75615360, 75615377-75615386, 75615497, 75615500, 75615541-75615559, 75615655-75615657, 75615688-75615715, 75615729, 75615741-75615752
510HSPB170.98543689320388961875932060-75932064, 75932263-75932264, 75932267, 75932272
511AKAP970.99897645854657121172491630249, 91630297-91630300, 91631990-91631996
512IFRD170.9992625368731611356112090806
513MET70.9983225497244274173116339587-116339593
514CFTR70.97996848975917894443117188713-117188753, 117188760-117188800, 117188847-117188853
515AASS70.9996404171161512781121769505
516IMPDH170.943888888888891011800128045838-128045874, 128045902-128045919, 128049819, 128049830-128049839, 128049877-128049898, 128049924-128049935, 128049953
517FLNC70.976889214966981898178128470692-128470701, 128470710-128470752, 128470773-128470803, 128470837-128470855, 128470881, 128470978, 128470990-128471033, 128477268-128477307
518ATP6V0A470.9996036464526412523138437396
519BRAF70.98218166014776412301140624367, 140624383, 140624393-140624429, 140624466, 140624493
520PRSS170.84811827956989113744142458483-142458529, 142459625-142459629, 142459664-142459682, 142460313, 142460335, 142460339, 142460366-142460397, 142460798-142460804
521KCNH270.967241379310341143480150645549, 150655210-150655211, 150655226-150655227, 150671828, 150671834, 150671851, 150671857-150671875, 150671881-150671883, 150671898-150671900, 150671914, 150671922, 150671995, 150671999, 150672009, 150674926-150675001
522SHH70.59467242620595631389155595594-155595609, 155595622-155595704, 155595714-155595847, 155595858-155595904, 155595938-155595957, 155595977-155596015, 155596022, 155596030-155596039, 155596051-155596094, 155596113, 155596117, 155596128-155596136, 155596164-155596257, 155596279-155596326, 155596379-155596382, 155596420, 155599048-155599058
523MNX170.36650082918747641206156798214-156798215, 156798228, 156798250-156798296, 156798325-156798352, 156798425-156798454, 156798464, 156799197-156799198, 156799242-156799271, 156799289-156799318, 156802381-156802409, 156802415, 156802458, 156802463-156802467, 156802471-156802478, 156802491-156802559, 156802565-156803044
524GATA480.925507900677299132911565849, 11565920-11565930, 11566099, 11566172-11566194, 11566232-11566241, 11566280-11566287, 11566306-11566309, 11566332-11566347, 11566352-11566364, 11566396, 11566401-11566411
525TUSC380.994269340974216104715397975, 15397989-15397992, 15397995
526SFTPC80.99494949494949359422020708-22020710
527CHRNA280.999371069182391159027321219
528THAP180.981308411214951264242693474-42693475, 42694351-42694352, 42698230-42698237
529HGSNAT80.93763102725367119190842995640-42995757, 43033268
530TMEM7080.99744572158365278374888593-74888594
531CNGB380.9637860082304588243087588239-87588326
532GDF680.996345029239775136897157410-97157411, 97157418-97157420
533VPS13B80.99991662497916111994100128095
534KCNQ380.99503627338679132619133492752-133492764
535SLURP180.13141025641026271312143822561-143822656, 143822668-143822694, 143823221-143823253, 143823261-143823298, 143823316-143823340, 143823746-143823753, 143823760-143823803
536CYP11B180.98611111111111211512143958513-143958533
537CYP11B280.97486772486772381512143994276-143994282, 143994702, 143994724, 143994736, 143996536-143996556, 143999032-143999038
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540RECQL480.1293079680176531583627145736814-145736938, 145737064-145737172, 145737294-145737450, 145737527-145737572, 145737578-145737707, 145737775-145737944, 145738025-145738154, 145738230-145738521, 145738601-145738768, 145738770-145738864, 145738955-145739096, 145739312-145739491, 145739573-145739646, 145739654-145739746, 145739826-145739835, 145739841-145739898, 145740320-145740338, 145740367-145740394, 145740408-145740456, 145740591-145740626, 145740723-145740753, 145740802-145740815, 145740841, 145741152-145741153, 145741158, 145741161, 145741173-145741231, 145741256-145741274, 145741372-145741394, 145741399-145741429, 145741450-145741454, 145741457-145741461, 145741464, 145741467-145741468, 145741476-145741581, 145741603-145741604, 145741618-145741675, 145741684, 145741688, 145741697-145741726, 145741732-145741737, 145741746, 145741750-145741784, 145741800-145741803, 145741820-145741858, 145741883-145742065, 145742095, 145742098-145742148, 145742443-145742518, 145742530-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168
541VLDLR90.977116704805496026222622190-2622192, 2622196, 2622210-2622264, 2652949
542KCNV290.9993894993895116382718978
543GLIS390.99928392409595227934118101, 4118214
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545GLDC90.99836761345087530636645375-6645379
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552PTCH190.9958563535911618434498270526-98270540, 98270593-98270595
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554TGFBR190.9947089947089981512101867533-101867540
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557LMX1B90.97587131367292271119129376808-129376820, 129376855-129376867, 129455587
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561TOR1A90.990990990990999999132586187-132586190, 132586213, 132586267, 132586362-132586364
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565SURF190.88150609080842107903136220646, 136223124-136223175, 136223276-136223329
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601OPN1MWX0.97808219178082241095153492769-153492792
602FLNAX0.96349446122862907944153577392, 153577883-153577888, 153578057-153578065, 153579290-153579294, 153579301, 153580638-153580641, 153581737-153581760, 153582572-153582578, 153585848, 153586567, 153586643, 153586834-153586844, 153587368-153587370, 153587617-153587627, 153588106-153588123, 153588199-153588205, 153588475-153588489, 153588527, 153588587-153588601, 153588857, 153588873-153588874, 153588902, 153588911, 153589677-153589683, 153589719-153589728, 153589782-153589804, 153590630, 153592409-153592415, 153592484-153592490, 153592661-153592666, 153593777, 153594392-153594394, 153596036-153596040, 153596233-153596235, 153596238-153596239, 153596252-153596254, 153599241-153599244, 153599266-153599268, 153599383-153599387, 153599421-153599434, 153599465-153599490, 153599549-153599562
603EMDX0.9790849673202616765153608135-153608150
604TAZX0.9353612167300451789153640209-153640247, 153640443-153640452, 153640464-153640465
605GDI1X0.98511904761905201344153665601-153665619, 153665629
606USP9YY0.999608763693273766814898712-14898714
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2.5OCA2-V443Ihet unknown0.005Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5ABCC6-R1141*het unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
2.5ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ABCC6-R265Ghomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-A206Vhet unknown0.213Unknown
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
2ARMS2-A69Shomozygous0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
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
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
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
2AGRP-A67Thet unknown0.030Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (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
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5SNCB-P123Hhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CACNA1S-A69Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-F576Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GLB1-S532Ghomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1GLI3-R1537Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-G1336Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-S4275Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahet unknown0.573Unknown
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-R1486Khet unknown0.607Unknown
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
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PSORS1C2-P94Shifthomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-KF76RLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F179Lhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-I186Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PDE6A-P293LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HPS5-G501Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS5-L417Mhomozygous0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOD2-V955Ihomozygous0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TNXB-N455Ihet unknownUnknown
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
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
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TSEN54-I137Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1AMPD1-K287Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BAG3-R71Qhomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ID1-N63Dhomozygous0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging)
1ZNF598-M637Thet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-R148Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-FC145RGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-E17AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-DM13ALhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SLCO1A2-E172Dhet unknown0.042Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FANCI-A86Vhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCI-I877Lhomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SHANK3-A737ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-H282RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNH2-K897Thomozygous0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC38A5-M451Thomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
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
1TCEAL6-Q175Shifthomozygous0.022Unknown
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
1CLCN5-R415QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
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
0.625OTOF-N1109Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-R1576Qhet unknownUnknown
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
0.5EFHD1-A31Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EFHD1-K186Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-T730Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPAMD8-Q1890Rhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-M368Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EID2-A6Thet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF781-T97Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5TRPM8-R247Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-R4909Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-P4665Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5FCGBP-DK3847EEhomozygous0.581Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-R1606Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
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
0.5WDR62-L850Shomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-G1375Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhomozygous0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX13-L360Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FSHR-R162Khet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ABCG8-Y54Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB11-R698Hhet unknown0.005Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), 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
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
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-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
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGRIP1-P96Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RGPD4-D761Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-K1653Nhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R1928Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFAIP6-*278Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
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
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhomozygous0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-P177Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ZNF480-G237Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC16B-G1161Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5LILRA4-H408Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA4-Y404Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LENG8-R279Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S26889Fhet 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-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LILRA1-S153Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC4-I706Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5OTOA-F15Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USP31-D1269Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5USP31-I538Thomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (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
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5KIAA0556-T522Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0556-P920Lhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0556-A1240Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.658 (possibly damaging)
0.5KIAA0556-A1267Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-M487Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSNAXIP1-R428Chet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-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-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-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-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
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-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-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (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-R1951Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.269 (possibly damaging)
0.5HYDIN-V1717Mhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly 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-G489Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPN-V269Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5SEZ6L2-D518Nhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SEZ6L2-R74Phet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
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)
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHH1-Q113Lhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5PLEKHH1-R322Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.868 (probably damaging)
0.5PLEKHH1-H735Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHH1-R1348*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-M942Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEATR4-R191Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SPTBN5-N3529Thomozygous0.909Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Y2922Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPTBN5-Q2827Rhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-G2786Rhet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-T2678Ihet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-R1848*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPTBN5-R1310Hhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-V1025Ihet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-C1000Rhomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN5-Q960Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPTBN5-H398Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN8A-R1026Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-D669Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5HP-D70Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HP-K71Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-E201*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
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-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5GIF-Q23Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5RNF157-G208Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5OR10V1-Q123Rhomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-V117Ahet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ANKRD12-K906Rhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5ANKRD12-L998Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
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
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-L98Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTL9-R271Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ACTL9-H227Nhet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ACTL9-V51Ahet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACTL9-F37Shet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehomozygous0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A5-G102Shomozygous0.369Unknown
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
0.5PEX11G-L216Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5ZFR2-R521Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
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
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhomozygous0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhomozygous0.640Unknown
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)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
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)
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC45B-I852Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5KRTAP3-2-R27Chomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-R142Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHRNB1-E32Ghomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPNE7-F77Lhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5NIN-S1837Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NIN-G1320Ehomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-P1111Ahet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-R1347Ghet unknown0.004Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), 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-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC47-A40Thet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
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
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCNXL3-Q258Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNXL3-S458Chet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5PCNXL3-R1917Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5RIN1-A79Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5TBKBP1-P189Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BZRAP1-G1830Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.204 (possibly damaging)
0.5BZRAP1-H1728Rhet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-A1140Phet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-Q817Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-A586Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL6A2-G935Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G7638Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5SYNE1-R3533Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-D1730Ehet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L885Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-V1138Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1009-E348Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5ARMC2-T546Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-D771Ehomozygous0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chomozygous0.123Unknown
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-V2525Ihet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
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
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPRE1-M549Ihet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5STAG3L3-C87Rhomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STAG3L3-E82Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
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
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPS8L3-H294Yhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPS8L3-M35Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
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
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-F-P23Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-K56EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-V57Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-D123Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-M126Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-S128Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-K59Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5ABCA4-P1948Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-H423Rhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TREML2-T129Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SKIV2L-Q151Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-M214Lhomozygous0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-V917Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SKIV2L-A1071Vhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-P2731Rhet unknown0.056Unknown
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-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
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-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T60Shet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EIF4G3-P496Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V771Mhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM201A-G53Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SHARPIN-R365Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SHARPIN-P147Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign)
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5TOPORS-P20Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-N796Khomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.412Unknown
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-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-P485Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thomozygous0.182Unknown
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
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5CLCNKB-R27Lhet unknown0.523Unknown
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-T481Shet unknown0.142Unknown
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-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5KNTC1-K245Nhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL5A1-P1379Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZC3H3-R578Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP11B2-G435Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.5PPT1-I134Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSR1-P275Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A3GALT2-S49Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
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
0.5AX747124-C51Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX747124-R83Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AX747124-K103Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GOLGA3-P264Lhomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5GOLGA3-G70Ehet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5GPR133-S523Lhet unknown0.022Unknown
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
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BSDC1-I234Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.5GSDMC-M475Thet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5CYP11B1-A386Vhet unknown0.022Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP11B1-R43Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB3-T298Phomozygous0.643Unknown
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
0.5CNGB3-G107Rhet unknownUnknown
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
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A2-N850Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGH-T151Ihet unknown0.083Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFHX4-P2424Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5TUBB2B-C201Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.379 (possibly damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-K2006Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5ARL13B-T348Shet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH1-V441Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-R1285Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-R3744Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-H3832Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA17-N16Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITPR1-M769Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.59 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5MYCBP2-N2593Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LYAR-H265Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYAR-D151Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.45 (possibly damaging)
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
0.5HRG-S79Whet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P443Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYLK-P147Shomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P21Hhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CCDC39-T182Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
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)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BC036832-R16Chet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC036832-Q62*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYCP2-M1003Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SYCP2-T751Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRP3-Q705Khet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5RPP38-A181Ghet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPP38-I212Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OTOR-M1Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-A2914Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPB41L1-T54Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPB41L1-P547Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
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-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
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
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGGT2-H1381Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-S328Ahomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-S826Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-H237Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.088 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-A2549Thet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
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
0.5GNB1L-W239Ghet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GNB1L-C70Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC125-R97*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC125-V13Mhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.134 (benign)
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5GBA-R140Whomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C1-N363Shet unknown0.022Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), 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
0.5NES-P1275Lhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5NES-V815Ihet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.5CDC25C-G297Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDC25C-R70Chet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ALDH7A1-K439Qhet unknown0.075Unknown
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
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-M3526Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T4220Ahet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5SDHA-D38Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCNJL-H234Yhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.472 (possibly damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CFHR2-C72Yhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNN-R79Ghet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNN-T94Mhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.948 (probably damaging)
0.5TNN-W807Rhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.104 (benign)
0.5TNN-P930Lhomozygous0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5TNN-T941Mhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAT1-K4059Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-T1585Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FAT1-R1268Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAT1-R1064Ghomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhomozygous0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-A131Vhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.052 (benign)
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-Q202Rhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.375COG1-A20Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-Y3105Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-H2507Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-E2398Qhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-A1805Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375CUL7-L1488Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CUL7-Q813Rhet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLCE1-S1348Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.375COL18A1-T379Mhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.375COL18A1-P1062Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYH6-D588Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.375OPA1-A210Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LAMB3-A726Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GSTP1-I105Vhet unknown0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
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-I69Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP1-N939Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP1-D2080Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
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
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
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
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), 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
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPT2-T190Shomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPT2-V6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-G1786Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AGBL2-N768Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AGBL2-M671Ihet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AGBL2-R349Hhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
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
0.25CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NRAP-R1566Chet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-L1531Phet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.25NRAP-I1183Vhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A1112Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NRAP-R884Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.25NRAP-A674Vhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-S490Lhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25NRAP-Q360Rhomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y249Chet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NRAP-V208Ahomozygous0.869Unknown
not reviewed
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
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ENPEP-Q213Rhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ENPEP-L761*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.266Unknown
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
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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)
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GK-E485Khet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GK-P313Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
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
0.25C5orf20-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
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), 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
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (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
0.25POLQ-A2547Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25POLQ-Q2513Rhomozygous0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-I1421Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLQ-H1201Rhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-T982Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-R66Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25ARFGAP1-T358Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARFGAP1-A360Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRTAP10-1-P280Lhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-1-R241Qhomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-1-D159Shomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRTAP10-1-S137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-1-P39Lhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRMU-A10Shet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests
0.25TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25ASAH1-T335Mhet unknownUnknown
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
0.25SFTPC-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
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SAMD9L-R406*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SAMD9L-V266Ihet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR3-V55Mhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.25CDHR3-Q61Hhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25CDHR3-Y440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDHR3-C529Yhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), 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
0.25LAMC3-L36Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LAMC3-H73Qhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-P174Qhomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-R770Ghet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-S1082Ghet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMC3-R1459Qhet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TMC1-E83Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMC1-E81Khet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-G563Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S408Ahet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (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
0.25MAML1-L996Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAML1-S1007Nhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-R2326Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-N1902Ihet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAI3-R423Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BAI3-N503Shomozygous0.883Unknown
not reviewed
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
0.25CPO-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
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
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
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IRX5-P255Thomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IRX5-R269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDT1-D342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDT1-SV463GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
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-P2045Lhet unknown0.325Unknown
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-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
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-T492Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-L173Shomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (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
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA0564-M383Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0564-Q274Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA0564-R165Hhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C1QTNF9-M219Vhomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C1QTNF9-Y253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.25IRS2-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).
0.25NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_028064-A9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RIN3-H215Rhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RIN3-T425Mhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RIN3-Y960Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR137C-G25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR137C-V248Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-R3465Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), 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
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ICAM5-V301Ihomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM5-A348Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM5-H651Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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)
0.25CD3EAP-K259Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-K373Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-D394Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
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
0.25SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-R117Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.25RNF43-I47Vhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM185B-P342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM185B-A42Ghet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.094 (benign)
0.25PRTN3-H3Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRTN3-A16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25RBBP8-H358Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBBP8-R589Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LOXHD1-G579Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0NOTCH3-A1802Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0DSG2-A753Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,764,099,656 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 31,821,928 bases (95.6% of all genes, 96.6% 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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