hu8B2C08 - GET-Evidence variant report

Variant report for hu8B2C08

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PRPH-D141YHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00365206Hypothesized to cause ALS (or increased susceptibility) in a recessive manner, but this is based on a single observation and may lack statistical significance. The mutant protein appears to form abnormal aggregates.1
2RYR2-G1886SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0613424Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.1
3CDKN2A-P11PAAGSSMEPModerateUncertainUncertain pathogenic

Dominant, Homozygous
Reported in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/11012588/) by GeneDx as causing "Hereditary cancer-predisposing syndrome". No further information is provided, it's unclear what evidence GeneDx had that led to reporting this effect. Similar variants typically have a dominant effect. Other variants in CDKN2A are implicated in causing hereditary melanoma. This variant doesn't appear in ExAC's allele frequency data, which could mean it's quite rare. (On the other hand, it might not be present for purely technical reasons.)1
4SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
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
6rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
7TNFRSF13B-C104RLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00399703Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary.1
8RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
9TGIF1-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
10ELAC2-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
11TP53-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
12ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
13BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
14H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).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
16rs1544410LowUncertainUncertain 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
17FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
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
18CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
19IL7R-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
20KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
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
21MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
22LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
23ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
24NOTCH3-A1020PLowLikelyLikely benign

Unknown, Heterozygous
0.111835Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.1
25NEFL-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
26WFS1-R456HLowUncertainUncertain benign

Unknown, Heterozygous
0.0454545Reported benign in ClinVar1
27AARS-K967MLowUncertainUncertain benign

Unknown, Heterozygous
0.0107827Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner.1
28ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
29RP1-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
30FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
31ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33ABCC11-G180RLowUncertainUncertain benign

Unknown, Homozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35PKP2-L366PLowUncertainUncertain benign

Unknown, Homozygous
0.221231This variant is a benign polymorphism. 1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
37TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
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
38SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
39ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
40TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31495032 / 33212919 = 94.83%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5047246660149930406138955553-955634, 955640-955682, 955691-955750, 957593-957596, 957602-957620, 957665-957684, 957694-957737, 957755-957771, 957795-957796, 957799-957833, 970657-970662, 970679-970704, 976047-976048, 976067-976082, 976114-976135, 976139-976152, 976157-976182, 976185, 976201-976260, 976553-976560, 976577-976692, 976708-976777, 976858-976873, 976886-976917, 976959-976997, 977062-977075, 977336, 977396-977433, 977489, 977502-977529, 977541, 978689-978695, 978704-978808, 978918-978947, 979003-979037, 979049-979112, 979203-979206, 979282, 979285-979288, 979311, 979316, 979345-979388, 979395-979402, 979548, 979586-979625, 979714-979716, 979723, 979729, 979735, 979738, 979808, 979817, 980594-980628, 980776-980823, 980857-980869, 980874-980875, 980899-980903, 981158-981168, 981175, 981182, 981204-981213, 981244, 981254, 981344, 981361, 981422, 981432, 981437-981456, 981540-981541, 981556-981582, 981609-981645, 981777-981851, 981857-981869, 981877-981880, 981891-981949, 981962, 981982-981997, 982031-982054, 982105, 982112-982115, 982200-982223, 982229, 982245-982296, 982316-982327, 982755-982782, 982801-982834, 982953-982956, 982967-982970, 982979, 983010, 983064-983067, 983174-983203, 983266-983275, 983403-983409, 983426-983455, 983485-983523, 983534-983582, 983592, 983595-983736, 984247-984318, 984340-984439, 984616-984640, 984647-984670, 984680-984707, 984716, 984729-984736, 984750-984791, 984799-984831, 984956, 984977-985008, 985039-985044, 985049, 985107-985108, 985111-985112, 985161-985162, 985295-985334, 985345, 985382-985383, 985401-985403, 985623-985651, 985690, 985824, 985847-985880, 986106-986117, 986181-986217, 986633-986655, 986678-986749, 986833-986924, 986950-986964, 986993-986994, 986997-987009, 987019-987025, 987108-987121, 987133-987137, 987144-987152, 987166-987169, 987179-987183, 989133-989146, 989183-989187, 989194, 989198, 989206, 989212-989214, 989240-989247, 989285, 989305, 989871-989911, 990246-990283, 990308, 990342-990361
2GABRD10.6357615894039749513591950863-1950930, 1956456, 1956815, 1956828, 1956835, 1956840, 1956957-1956982, 1956997-1956998, 1957003, 1957008, 1957012, 1957084-1957091, 1957124-1957129, 1957168-1957177, 1959020, 1959028, 1959039-1959048, 1959071, 1959598-1959636, 1959686-1959687, 1959707, 1959718-1959723, 1960550-1960560, 1960563-1960577, 1960583-1960620, 1960625-1960636, 1960663-1960666, 1960674, 1960690-1960705, 1960990-1961016, 1961028-1961058, 1961080-1961092, 1961164-1961180, 1961185-1961191, 1961422-1961466, 1961510-1961532, 1961550, 1961557-1961569, 1961683, 1961688-1961718
3PEX1010.859327217125381389812337933-2337954, 2338270, 2340020-2340031, 2340034, 2340178-2340182, 2343840-2343895, 2343901-2343941
4NPHP410.9236159775753332742815934552-5934563, 5934952-5934960, 5935045-5935047, 5935050-5935051, 5935111-5935160, 5940187-5940189, 5947456-5947472, 5950939, 5950942-5950948, 5950975-5950990, 6027359-6027360, 6029147-6029159, 6029200-6029209, 6029270, 6038330-6038473, 6046221-6046253, 6046256-6046259
5ESPN10.8409356725146240825656485027-6485098, 6485108-6485109, 6485152-6485159, 6485170-6485179, 6485225-6485227, 6485240, 6485268-6485308, 6488300, 6488330-6488337, 6488372-6488401, 6488426-6488432, 6488449-6488479, 6500469-6500478, 6500692-6500760, 6500768, 6500779, 6500784-6500786, 6500792, 6500838-6500868, 6500994-6500997, 6505843, 6505846-6505855, 6505874, 6505891, 6505900, 6505925-6505937, 6508709-6508733, 6508922-6508928, 6511703-6511709, 6511956, 6512127-6512133
6PLEKHG510.9658200062715610931896529231-6529239, 6529484, 6529709-6529720, 6529724, 6530837-6530858, 6530861, 6534174-6534177, 6534511-6534529, 6534562, 6534622-6534644, 6535155, 6535538, 6535562-6535563, 6536025-6536032, 6557380-6557383
7PEX1410.90740740740741105113410684431-10684448, 10684471, 10687335, 10687354-10687363, 10687392-10687403, 10689753-10689762, 10689792-10689794, 10689888-10689890, 10689899, 10689921-10689928, 10689972-10690007, 10690012-10690013
8TARDBP10.942971887550271124511073916-11073925, 11082322-11082362, 11082519-11082538
9MASP210.64046579330422741206111087316, 11087390, 11090807-11090811, 11094885, 11094891-11094927, 11094958-11094963, 11097750-11097812, 11097825-11097847, 11102932-11103009, 11103033-11103079, 11103396-11103460, 11103469-11103521, 11103539-11103592, 11105465-11105563, 11105572-11105577, 11105581-11105596, 11106627, 11106633-11106685, 11106701-11106705, 11106737-11106761, 11106778, 11106788, 11106954-11107004, 11107065-11107066, 11107070, 11107079, 11107093, 11107119-11107120, 11107123-11107135, 11107141, 11107154-11107176, 11107260-11107264
10MTHFR10.93810248604769122197111853981, 11853984-11853998, 11854546-11854552, 11855236, 11855376-11855392, 11856269, 11860368-11860376, 11861314-11861332, 11861413-11861417, 11862938-11862940, 11863090-11863133
11PLOD110.9858058608058631218411994875, 12010511, 12010523, 12018606, 12024240, 12025541-12025547, 12025628-12025632, 12026315, 12026318-12026330
12MFN210.999120492524192227412066706, 12067165
13CLCNKA10.83333333333333344206416350388-16350389, 16353253-16353260, 16353833-16353852, 16355621-16355631, 16355740-16355747, 16356241-16356246, 16356510-16356518, 16356557-16356564, 16356956-16357009, 16357030, 16357059-16357160, 16358210-16358223, 16358245, 16358249-16358258, 16358698-16358742, 16358763-16358770, 16358938-16358954, 16359677-16359684, 16360106-16360117
14CLCNKB10.86967054263566269206416372070-16372072, 16372145, 16373133, 16374463, 16375659, 16377023-16377030, 16377370-16377373, 16377480-16377495, 16377528-16377543, 16378038-16378039, 16378693-16378742, 16378763-16378820, 16378828-16378842, 16380146-16380177, 16380230-16380243, 16380252, 16381930-16381935, 16381969-16381982, 16382170-16382193, 16383364-16383365
15ATP13A210.9822184589331163354317313600-17313621, 17314883, 17314889-17314895, 17318339-17318342, 17322633, 17322777-17322782, 17323544-17323548, 17323618-17323626, 17326573-17326578, 17326586, 17326601
16ALDH4A110.9858156028368824169219208348-19208356, 19216552-19216566
17HSPG210.965543412264724541317622149935, 22150649-22150652, 22150859, 22151030-22151061, 22154552-22154553, 22154581-22154606, 22154613-22154638, 22154748, 22154758, 22154777, 22154840, 22155489, 22155500-22155503, 22155881, 22157544-22157560, 22167661, 22168039-22168041, 22168052-22168060, 22168557, 22173891, 22174286-22174299, 22174518-22174534, 22175159, 22175426, 22176864-22176870, 22178332-22178333, 22181202-22181205, 22181209, 22181223, 22181411-22181433, 22186101-22186121, 22186340-22186341, 22186388-22186395, 22186671-22186695, 22186707-22186723, 22188250-22188254, 22188259, 22191353, 22191360, 22191363-22191364, 22199113-22199122, 22199140-22199144, 22199490-22199530, 22202521-22202527, 22202534, 22206866-22206869, 22206881-22206898, 22207034, 22211358-22211359, 22211363-22211367, 22211868-22211871, 22222756-22222761, 22263649-22263710
18WNT410.9365530303030367105622469339-22469376, 22469387-22469415
19RPL1110.882681564245816353724018314-24018316, 24019112-24019115, 24019171-24019193, 24019216-24019240, 24020365, 24020368-24020374
20HMGCL10.99488752556237597824134724-24134727, 24134757
21FUCA110.996431120628125140124194448-24194449, 24194712, 24194718, 24194727
22SEPN110.88908872901679185166826126722-26126904, 26138312, 26138315
23YARS10.997479521109014158733256812-33256815
24ZMPSTE2410.994397759103648142840758215-40758218, 40758225-40758228
25KCNQ410.9808429118773940208841249773, 41249802-41249818, 41249851, 41249854-41249856, 41249872, 41249955-41249964, 41250047-41250053
26EIF2B310.999264164827081135945446731
27POMGNT110.996974281391836198346660233, 46661547, 46661553-46661555, 46662408
28STIL10.998707008016555386747735446, 47746219-47746220, 47755221-47755222
29ORC110.9941995359628815258652840558, 52841116-52841126, 52841130, 52841133-52841134
30PCSK910.9538239538239596207955521670-55521686, 55521693-55521732, 55521860-55521862, 55523772-55523779, 55524225, 55524230, 55524237-55524238, 55524257-55524280
31LEPR10.998856489422534349866036472, 66036475, 66058406, 66058430
32ACADM10.9741784037558733127876198421-76198426, 76198550-76198551, 76199247, 76205732, 76205737-76205754, 76227012, 76228445-76228448
33GLMN10.996638655462186178592731987, 92731999-92732003
34ABCA410.999120492524196682294471005-94471009, 94497415
35DPYD10.99902534113063307897848017, 98187118-98187119
36AGL10.98695368558382604599100340243, 100347145, 100347149, 100356787-100356790, 100356847-100356874, 100361915, 100387184-100387207
37DBT10.94893029675638741449100684278, 100696358-100696379, 100706344-100706374, 100706415-100706434
38COL11A110.98790544255085665457103343644-103343649, 103345364, 103352364-103352366, 103352520, 103363731-103363734, 103364245-103364248, 103364262-103364287, 103364312-103364317, 103364550, 103412420-103412426, 103440425-103440431
39GSTM110.67427701674277214657110230496-110230531, 110230835-110230857, 110231295-110231305, 110231324-110231338, 110231714, 110231721, 110231724-110231726, 110231746, 110232907-110232988, 110233102-110233109, 110235885-110235917
40VANGL110.99047619047619151575116194079-116194081, 116226644-116226655
41HSD3B210.9991063449508511119119965108
42NOTCH210.99420172599784437416120510137, 120512234, 120512343-120512346, 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539916, 120539936, 120539955, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120611960, 120611964, 120612003-120612004
43HFE210.9953161592505961281145416677-145416682
44PRPF310.98294346978558352052150305599, 150305608-150305612, 150315903, 150315906-150315907, 150318572-150318582, 150321645-150321659
45FLG10.9433776464795769012186152275608, 152276404, 152276455-152276493, 152276721, 152277172, 152277315, 152277318, 152277324-152277325, 152277382, 152277431-152277438, 152277448, 152277456, 152277462, 152277521-152277557, 152277822, 152277826, 152277842, 152278241, 152278405-152278437, 152279377-152279409, 152279621-152279658, 152279675, 152279889-152279923, 152279974, 152280088, 152280186, 152280313, 152280322, 152280535-152280543, 152280606, 152281076, 152281290, 152281320-152281356, 152281564, 152281574-152281578, 152281594, 152281600-152281605, 152281794, 152281932, 152281938, 152281947, 152281995, 152282101, 152282108-152282117, 152282235-152282237, 152282292-152282314, 152282492, 152282495, 152282550-152282580, 152282792, 152282835-152282843, 152282932, 152283092, 152283215-152283221, 152283490, 152283502-152283533, 152283992-152284039, 152284066, 152284119-152284136, 152284174, 152284178-152284179, 152284183, 152284187-152284189, 152284241-152284245, 152284249, 152284305, 152284332, 152284524, 152285044-152285074, 152285227-152285247, 152285491, 152285500, 152285577-152285578, 152285581-152285587, 152285594-152285596, 152285667-152285673, 152285841, 152286202-152286203, 152286253-152286281, 152286369-152286378, 152286442-152286444, 152286459, 152286607-152286614, 152286708-152286723, 152286742, 152286800, 152286813, 152286824, 152286852-152286864, 152286885, 152286900-152286902, 152286966, 152287021, 152287846, 152287868-152287870, 152287880-152287882
46GBA10.97577276524645291197155184206-155184212, 155184364-155184384, 155187144
47GBA10.9993792675356911611155204836
48PKLR10.9965217391304361725155269963, 155269983-155269985, 155269991-155269992
49LMNA10.9979949874686741995156108467, 156108894-156108896
50SEMA4A10.99343832020997152286156131145-156131156, 156131218-156131220
51NTRK110.99414470932664142391156830750-156830756, 156830849-156830855
52F510.98127340823971256675169497281-169497287, 169498975, 169499000, 169499047-169499056, 169500143-169500145, 169505786-169505789, 169505888-169505893, 169510157-169510171, 169510351-169510383, 169510486-169510527, 169511523, 169519073-169519074
53DARS210.99174406604747161938173799871-173799872, 173802567, 173802571-173802576, 173819536-173819542
54SERPINC110.9956989247311861395173878916-173878921
55HMCN110.996096522356286616908185878469, 185891617, 185892530-185892541, 185892575-185892581, 185892635, 185892670-185892683, 185892739-185892741, 185897752-185897753, 185897794-185897799, 186057822, 186062677-186062678, 186062682-186062683, 186063494-186063500, 186082062-186082068
56CFH10.98187229437229673696196659337-196659344, 196682889, 196684755-196684761, 196684802-196684808, 196706024, 196716353-196716395
57CFHR110.80060422960725198993196794627, 196794631, 196794641, 196794656-196794657, 196794677-196794721, 196794740-196794768, 196794777-196794801, 196795959-196795986, 196796038-196796041, 196796047, 196797204, 196797225, 196797253, 196797272, 196799675-196799702, 196800927, 196800956, 196800981, 196801005, 196801023-196801025, 196801031-196801042, 196801047, 196801074-196801078, 196801126-196801129
58CFHR510.9988304093567321710196971665-196971666
59ASPM10.991757715161978610434197069813, 197071126, 197071221-197071236, 197071416, 197071743-197071752, 197071758, 197071977-197071985, 197072052-197072060, 197072337, 197073167-197073169, 197073932, 197073942, 197074219-197074221, 197074284-197074295, 197074302, 197086971, 197086976, 197112732-197112733, 197113144-197113154, 197115532
60CRB110.9978678038379594221197316578-197316586
61PKP110.9995414947271912181201282565
62REN10.99590499590551221204135329, 204135409-204135412
63CD4610.9875151200207940409-207940423
64USH2A10.993913767698129515609215916558, 215916637, 216062297, 216108024-216108027, 216108033, 216138772-216138792, 216144013-216144017, 216251455, 216495313, 216496861, 216496930-216496938, 216496942, 216497679-216497694, 216498750, 216498812-216498838, 216595458-216595461
65PSEN210.998515219005221347227071511, 227071525
66ADCK310.96502057613169681944227149235-227149249, 227153418-227153422, 227171804-227171805, 227173022-227173029, 227174399-227174436
67GJC210.406060606060617841320228345475-228345488, 228345635-228345664, 228345694-228345710, 228345716-228345723, 228345731-228345743, 228345769-228345806, 228345874-228345977, 228345986, 228345994, 228346010-228346012, 228346024-228346096, 228346122-228346164, 228346198-228346246, 228346281-228346343, 228346352-228346369, 228346377-228346500, 228346510, 228346521-228346581, 228346604-228346618, 228346631-228346689, 228346704-228346730, 228346746-228346763, 228346769-228346771, 228346775
68ACTA110.9920634920634991134229568034-229568042
69GNPAT10.98825256975037242043231398539, 231401831-231401842, 231402106-231402107, 231403428-231403430, 231406504-231406505, 231411895-231411898
70LYST10.9843065053480617911406235826263, 235872443, 235875416-235875420, 235880035-235880039, 235896956, 235897915, 235907279-235907282, 235929428, 235929476, 235933492, 235933521-235933541, 235937175-235937201, 235937256, 235938302-235938322, 235940447-235940449, 235944165-235944168, 235944240-235944252, 235944265, 235944304, 235950500-235950534, 235956803-235956820, 235966357, 235967830-235967838, 235972506, 235972589, 235973747
71ACTN210.99553072625698122685236908001, 236918401-236918411
72RYR210.9927536231884110814904237729971-237729982, 237732523-237732541, 237791162-237791167, 237814760-237814761, 237814771-237814777, 237817661-237817663, 237817668, 237817692, 237821244-237821268, 237821274-237821275, 237821293-237821322
73FH10.95759947814742651533241661263-241661268, 241663760-241663766, 241669435-241669441, 241669445, 241671940-241671950, 241672038-241672051, 241672054-241672055, 241675421-241675422, 241675429-241675432, 241676927-241676935, 241677012-241677013
74GATA3100.992509363295881013358100728, 8100731-8100739
75OPTN100.9867358708189223173413151239-13151260, 13151266
76DCLRE1C100.9773929773929847207914970022-14970036, 14970079-14970103, 14987160-14987166
77CUBN100.99687270051508341087216893248-16893253, 16967303-16967309, 17032356-17032368, 17032420-17032427
78MYO3A100.999587713873432485126359131-26359132
79PDSS1100.992788461538469124827031431-27031433, 27035317-27035320, 27035394-27035395
80MASTL100.89078498293515288263727447584, 27447588, 27447593, 27448584-27448585, 27448601-27448605, 27448611-27448614, 27448632-27448633, 27453993-27454008, 27454415-27454421, 27456132-27456172, 27458873-27458889, 27459006, 27459071-27459084, 27459100-27459129, 27459174, 27459179, 27459254-27459255, 27459428-27459435, 27459561-27459562, 27459575, 27459621-27459623, 27459670, 27459697-27459700, 27459734, 27459753-27459784, 27459793-27459807, 27459852-27459870, 27459876-27459897, 27459916-27459924, 27462091, 27470444-27470463, 27475392-27475395
81RET100.9769805680119677334543572707-43572773, 43596114-43596119, 43596129, 43598056-43598058
82ERCC6100.9926372155287833448250691484, 50738767-50738790, 50738804-50738808, 50740824-50740825, 50740876
83PCDH15100.9971132620139217588955616945, 55700649-55700655, 55892683-55892691
84EGR2100.996505939902175143164573024-64573028
85KIAA1279100.99624866023587186670775820-70775826
86PRF1100.9922062350119913166872358276-72358288
87SLC29A3100.997899159663873142873082575, 73082578, 73082603
88CDH23100.980608591885441951005673439144-73439186, 73442226-73442242, 73442282-73442288, 73447404-73447413, 73447445-73447459, 73455184-73455193, 73455250-73455282, 73461956-73461968, 73462370-73462372, 73464675, 73464679, 73464766-73464774, 73472520-73472525, 73550907-73550913, 73569816-73569828, 73571152-73571158
89MAT1A100.9865319865319916118882033539, 82033542-82033545, 82034868-82034878
90LDB3100.9871794871794928218488476181, 88476269-88476284, 88476295, 88476334, 88476338-88476341, 88476511-88476514, 88476527
91BMPR1A100.9887429643527218159988649970-88649976, 88683146, 88683467-88683476
92GLUD1100.9803220035778233167788854418-88854439, 88854452-88854453, 88854480-88854488
93PLCE1100.994210450137540690996006013, 96006152-96006159, 96022342, 96033416-96033418, 96043602-96043608, 96068395, 96068399-96068402, 96076358-96076359, 96076362-96076374
94HPS1100.97673314339981492106100177385-100177412, 100185423-100185426, 100186983-100186998, 100190360
95PAX2100.9946112394149371299102509590-102509596
96C10orf2100.97664233576642482055102748279, 102748711-102748740, 102748975-102748976, 102750214-102750227, 102753147
97HPS6100.99183848797251192328103825443-103825448, 103825484-103825495, 103826240
98SUFU100.9993127147766311455104357000
99CYP17A1100.99148657498363131527104592426-104592428, 104594755-104594764
100COL17A1100.99532710280374214494105794058, 105815694-105815701, 105816910-105816911, 105816921-105816930
101SHOC2100.9988564894225321749112724546-112724547
102HTRA1100.94455994455994801443124221196-124221229, 124221285-124221294, 124221347-124221367, 124221388-124221400, 124221404, 124271567
103OAT100.9939393939393981320126097347-126097354
104UROS100.9824561403508814798127477437-127477450
105HRAS110.7171570532669-532713, 532741-532755, 533460-533482, 533549-533589, 533786-533808, 534218, 534242, 534301-534322
106TALDO1110.864891518737671371014747484-747502, 763344-763369, 763381-763425, 763441-763469, 763497, 763747-763760, 763848-763850
107SLC25A22110.35288065843621629972791919-791967, 791981-792004, 792149-792153, 792165-792217, 792304-792308, 792324, 792335-792336, 792341-792352, 792424-792458, 792553-792567, 792588-792682, 792689, 792706-792727, 792870-792951, 792962-792976, 792985-792988, 793546-793563, 793587-793619, 794458-794467, 794483-794513, 794778, 794781-794794, 794808-794854, 794864-794901, 794987-795003
108PNPLA2110.877227722772281861515819719-819739, 819771-819776, 819786, 819791, 819803-819846, 819854-819880, 819885-819890, 819904-819905, 821696-821736, 821958-821959, 822500-822501, 823534, 823824, 823999, 824004, 824105-824125, 824350, 824557, 824660, 824676-824678, 824722-824723
109CTSD110.6852300242130839012391774843-1774854, 1775034-1775063, 1775088, 1775100-1775107, 1775120-1775131, 1775224-1775230, 1775262-1775267, 1775294, 1775297, 1775301, 1775313-1775341, 1775355-1775359, 1778554-1778568, 1778582-1778620, 1778651, 1778656, 1778696, 1778726-1778773, 1780199-1780207, 1780215-1780245, 1780294, 1780788-1780789, 1780816-1780822, 1780865, 1782600-1782633, 1782646, 1782649-1782666, 1785022-1785089
110TNNI2110.803278688524591085491861454, 1861643-1861666, 1861758-1861780, 1861834-1861844, 1862058-1862067, 1862265-1862271, 1862374, 1862407-1862437
111TNNT3110.0952380952380957037771944105-1944113, 1944791-1944800, 1946329-1946342, 1947934-1947937, 1950350-1950363, 1950369-1950373, 1951040-1951058, 1953699-1953740, 1954951-1955005, 1955011-1955067, 1955161-1955227, 1955236-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956149, 1958193-1958223, 1958231-1958233, 1959668-1959722
112IGF2110.109704641350216337112154217-2154453, 2154747-2154895, 2156597-2156606, 2156610, 2156652, 2156656-2156714, 2156729-2156759, 2161377-2161496, 2161502-2161526
113TH110.1168253968254139115752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188246, 2188253-2188262, 2188665-2188709, 2189096-2189163, 2189321-2189335, 2189345-2189409, 2189729-2189733, 2189743-2189853, 2189871-2189872, 2189879-2189882, 2190905-2191038, 2191059, 2191920-2192000, 2192927-2192993
114KCNQ1110.8586903003446628720312466329-2466366, 2466403-2466456, 2466462-2466483, 2466505-2466606, 2466622-2466635, 2466645-2466683, 2466711-2466714, 2591915-2591918, 2594158-2594160, 2606525-2606531
115CDKN1C110.196635120925347649512905236-2905261, 2905326-2905331, 2905349-2905364, 2905900-2906128, 2906134-2906531, 2906538-2906589, 2906605-2906623, 2906678-2906695
116HBD110.9842342342342374445255652-5255658
117SMPD1110.994198312236291118966411931-6411941
118SBF2110.996936936936941755509806679-9806683, 9812118-9812129
119ANO5110.997447118891327274222247597-22247598, 22276997-22277000, 22301243
120PAX6110.999211977935381126931815247
121WT1110.99549549549557155432449510, 32449520-32449522, 32456812-32456814
122PDHX110.996679946879155150635006209-35006213
123SLC35C1110.9753787878787926105645827586-45827611
124PEX16110.9365994236311266104145935919-45935920, 45935959-45935966, 45937076-45937080, 45937368, 45937373-45937377, 45937381, 45939251-45939287, 45939295-45939301
125F2110.93793472445158116186946745022, 46747419, 46747454-46747515, 46747566, 46747571, 46747703, 46748054-46748056, 46748373, 46749580-46749623, 46749691
126DDB2110.998442367601252128447259690-47259691
127MADD110.998381877022658494447306521, 47307029-47307032, 47345823, 47350232, 47350241
128MYBPC3110.97202614379085107382547353671-47353694, 47353727, 47354149, 47354478, 47355141, 47355147, 47355151, 47365127, 47368989-47369017, 47370086, 47371463-47371473, 47371590-47371604, 47371610, 47371613, 47371647-47371650, 47372097-47372099, 47372102-47372111, 47372836
129NDUFS3110.99496855345912479547602457-47602459, 47603649
130GIF110.999202551834131125459599166
131TMEM216110.954545454545451226461165330-61165332, 61165335-61165340, 61165343, 61165356-61165357
132SDHAF2110.99800399201597150161213481
133BEST1110.9857792946530125175861722579-61722599, 61723279-61723282
134ROM1110.997159090909093105662381127-62381128, 62381132
135SLC22A12110.90012033694344166166264359249-64359250, 64360325, 64360923-64360926, 64361014, 64361109, 64361193-64361231, 64367158-64367176, 64367211-64367300, 64367839-64367846, 64368207
136PYGM110.9616449189402997252964520577, 64521370, 64521412-64521419, 64521470, 64521476, 64521496, 64521731-64521771, 64521784-64521811, 64526080-64526081, 64527139, 64527149-64527160
137MEN1110.99783549783554184864577242-64577243, 64577571-64577572
138EFEMP2110.9654654654654746133265634459-65634467, 65635820, 65635870-65635877, 65636025-65636028, 65637386-65637390, 65638054-65638064, 65639721-65639724, 65639818-65639821
139CST6110.98888888888889545065780328, 65780331-65780334
140SPTBN2110.9924717691342554717366453889-66453894, 66467062-66467067, 66468005, 66468122, 66468125-66468129, 66468399-66468402, 66468469-66468472, 66472627-66472629, 66475247-66475263, 66478196-66478202
141PC110.9960418433700914353766631319-66631326, 66638903, 66639184, 66639188-66639191
142CABP4110.88043478260879982867222958, 67222961, 67223076-67223125, 67223173-67223188, 67223236, 67223863, 67225937-67225958, 67226120-67226126
143AIP110.3262839879154166999367254481, 67254529-67254533, 67254568-67254585, 67254637-67254643, 67256738-67256780, 67256806-67256842, 67256866-67256869, 67256880-67256926, 67257510-67257511, 67257513-67257684, 67257792-67257918, 67258259-67258464
144NDUFV1110.999283154121861139567376987
145NDUFS8110.98894154818325763367799648, 67799780-67799783, 67799792, 67800410
146TCIRG1110.91857200160449203249367810115-67810128, 67810256-67810258, 67810261-67810271, 67810465-67810470, 67810906-67810908, 67811286-67811325, 67811348-67811361, 67811373, 67811620-67811625, 67811628, 67811650-67811665, 67811752-67811758, 67811760-67811788, 67815004-67815027, 67816443-67816446, 67816554, 67816577-67816578, 67816701-67816707, 67817138-67817140, 67817145, 67817625, 67817629-67817631, 67817667-67817669, 67817982, 67817985, 67818089
147LRP5110.93564356435644312484868080183-68080259, 68115449, 68131215-68131230, 68131265-68131269, 68131278, 68131299-68131300, 68131306-68131308, 68131358-68131400, 68171049, 68174091-68174092, 68177382-68177388, 68179037, 68181348, 68191065, 68192579-68192580, 68193609, 68193636-68193637, 68197151, 68201224, 68201289-68201291, 68201302, 68204425, 68206140, 68207245-68207256, 68207340-68207379, 68207382-68207384, 68213954-68213957, 68213963-68213965, 68216278, 68216282, 68216297-68216317, 68216344, 68216348, 68216411-68216460, 68216503
148CPT1A110.998277347114564232268540737-68540738, 68540749, 68560813
149IGHMBP2110.9902749832327329298268671469-68671482, 68702867-68702868, 68704336-68704341, 68707148-68707154
150DHCR7110.999299719887961142871146552
151KCNE3110.98717948717949431274168594-74168597
152MYO7A110.746089049338151688664876858904, 76858926, 76858929, 76867788-76867810, 76867909, 76867956-76867972, 76868017-76868035, 76871263, 76871278, 76873174, 76873233-76873257, 76873315-76873364, 76873907-76873909, 76873912-76873913, 76873961, 76873966-76873967, 76874018-76874024, 76877125, 76877171, 76877175-76877178, 76883832, 76883855-76883858, 76883874, 76883885-76883886, 76883893-76883927, 76885802-76885844, 76885850-76885868, 76885916-76885960, 76886430, 76886446-76886459, 76886486-76886496, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891429-76891494, 76891505-76891527, 76892429-76892465, 76892486-76892635, 76892997-76893117, 76893124-76893200, 76893469-76893515, 76893530-76893645, 76894113-76894193, 76895648-76895657, 76895665, 76895694, 76895707-76895754, 76900406-76900408, 76900444, 76901129-76901184, 76901772-76901789, 76901808-76901809, 76901889-76901890, 76903099-76903110, 76903138-76903159, 76903268-76903276, 76908622-76908643, 76909563-76909584, 76910794, 76910797, 76912647-76912648
153ALG8110.9873497786211320158177824968, 77825325-77825343
154FZD4110.9919454770755913161486665934-86665935, 86666114, 86666117-86666126
155TRPC6110.98640915593705382796101325770, 101353686, 101353690-101353700, 101353704-101353706, 101353732-101353735, 101353740, 101353750, 101353764, 101359756, 101359770-101359771, 101359773-101359784
156DYNC2H1110.9827732715334122312945102984336, 102987405, 102987435, 102991524, 102991527-102991528, 102996019, 103005068, 103018525-103018528, 103018558-103018563, 103025298-103025311, 103027322-103027326, 103027337, 103029422-103029444, 103029483, 103029510-103029516, 103029658-103029696, 103029719-103029725, 103043816-103043861, 103052505-103052507, 103059226-103059231, 103062933, 103062971, 103062980-103062981, 103068785-103068788, 103070102, 103070109-103070116, 103070164-103070165, 103075551-103075552, 103075690-103075693, 103191888-103191908, 103270493-103270499
157ATM110.99880056700469119171108153575-108153576, 108181022, 108188144-108188151
158RDX110.9965753424657561752110143339-110143344
159DLAT110.9989711934156421944111931804, 111931814
160SDHD110.985416666666677480111965597-111965603
161APOA1110.9527363184079638804116706632-116706635, 116706758-116706762, 116706801-116706803, 116706813-116706835, 116707742-116707744
162SLC37A4110.9990636704119911068118897714
163TECTA110.9993812838360446465120984388-120984390, 120989389
164KCNJ1110.9991496598639511176128709450
165ACAD8110.9975961538461531248134131632, 134132474-134132475
166WNK1120.98852986431669827149862850-862874, 862895-862899, 862902-862910, 862976-862993, 987419-987424, 990904, 994002-994008, 994075-994081, 994439, 994552, 994806, 994809
167CACNA2D4120.987404803749274334141994221-1994230, 1995196-1995205, 2027512-2027534
168CACNA1C120.9804907788446912865612676762-2676764, 2676775-2676776, 2676830-2676916, 2690961-2690963, 2694645, 2695017, 2787015, 2794934-2794940, 2794974-2794980, 2797617, 2797632, 2797639, 2797772-2797774, 2797812-2797818, 2800352-2800354
169VWF120.996564795072262984426131926-6131932, 6131955-6131976
170SCNN1A120.99862825788752321876458332-6458334
171ATN1120.99972012314582135737050648
172GYS2120.999053030303032211221712033, 21712071
173ABCC9120.9862365591397864465021965057-21965058, 21968757-21968770, 22015916, 22025627-22025639, 22025654-22025664, 22028610-22028612, 22063788-22063794, 22068642, 22069997, 22070004-22070009, 22078909, 22089468, 22089484, 22089572, 22089577
174BCAT1120.993970714900957116124989511-24989517
175KRAS120.950877192982462857025368454-25368458, 25368461-25368462, 25380188-25380206, 25380274-25380275
176FGD4120.998261625380274230132754287, 32764215-32764217
177DNM1L120.997738579828135221132866214-32866216, 32886732, 32895609
178PKP2120.9904534606205324251432975542-32975543, 33049499-33049500, 33049562-33049579, 33049584-33049585
179KIF21A120.9965904532691517498639703470, 39705241-39705247, 39716561, 39733978, 39734149, 39735904, 39735907, 39750664-39750667
180LRRK2120.9977584388185717758440734161, 40753211, 40760842-40760856
181VDR120.993769470404988128448240499-48240502, 48251352-48251353, 48251358-48251359
182COL2A1120.999551971326162446448377516, 48393814
183MLL2120.955519441434937391661449420152, 49420182, 49420655, 49422949, 49424116, 49424119, 49424145-49424156, 49424683, 49424983-49425028, 49425142, 49425281, 49425684, 49425785-49425806, 49426136, 49426145, 49426151-49426154, 49426172, 49426218-49426223, 49426371, 49426518-49426530, 49426568-49426587, 49426602-49426698, 49426730-49426732, 49426737-49426746, 49426799, 49426811-49426825, 49426857-49426864, 49426902-49426908, 49426914-49426915, 49426919-49426930, 49426948-49426961, 49427016-49427025, 49427058, 49427074-49427086, 49427147-49427167, 49427195-49427221, 49427239, 49427242-49427243, 49427251-49427253, 49427319-49427320, 49427323, 49427406-49427409, 49427604, 49427650, 49427661, 49427664, 49427669, 49427705, 49427733, 49427874-49427875, 49427886, 49427991-49428003, 49428033-49428035, 49428038-49428045, 49430947-49430950, 49430989, 49431000-49431001, 49431027-49431038, 49431210, 49431224, 49431255-49431323, 49431343-49431345, 49431348-49431357, 49431360-49431361, 49431366, 49431495-49431536, 49431559-49431572, 49431640, 49431691-49431703, 49431730-49431739, 49431756-49431790, 49431830-49431842, 49431860-49431885, 49431899-49431910, 49431981-49431985, 49432092, 49432162, 49432302, 49432460, 49432498-49432499, 49432505-49432507, 49432692-49432697, 49433318-49433320, 49433323-49433328, 49433337, 49433373-49433376, 49433624, 49433628-49433630, 49433741, 49433818, 49434046, 49434303
184TUBA1A120.846491228070187045649522210-49522234, 49522251-49522290, 49522311, 49522386, 49522445, 49522457, 49522468
185AQP2120.99264705882353681650344622-50344627
186KRT81120.9749670619235838151852681416, 52681437, 52681834, 52682999-52683005, 52684036-52684061, 52684923-52684924
187KRT86120.9842573579739923146152696895-52696897, 52696900-52696904, 52696911-52696918, 52697949-52697955
188KRT83120.999325236167341148252713126
189KRT6B120.988200589970520169552843632-52843637, 52845432-52845438, 52845798-52845804
190KRT6C120.9917404129793514169552865295-52865300, 52867094, 52867457-52867463
191KRT6A120.9923303834808313169552884732-52884737, 52886908-52886914
192KRT5120.998307952622673177352908894, 52908912, 52911916
193KRT2120.989062521192053045626, 53045774-53045793
194KRT4120.9910364145658316178553201541-53201546, 53205640-53205649
195AAAS120.997562461913474164153701653-53701656
196RPS26120.99712643678161134856436209
197LEMD3120.999634502923981273665640045
198CEP290120.96706989247312245744088443116-88443119, 88471664-88471666, 88472939-88472960, 88476841-88476846, 88478444-88478450, 88481638-88481646, 88496642-88496645, 88496707, 88496723, 88496726, 88505550, 88505635, 88512301-88512318, 88514880, 88519023-88519026, 88519047-88519089, 88519136-88519146, 88520098-88520107, 88520192, 88522723-88522728, 88523502, 88523546-88523557, 88530474-88530480, 88532938-88532948, 88534754-88534760, 88534788-88534802, 88534999-88535006, 88535014, 88535020, 88535053-88535080
199HAL120.998986828774062197496374606-96374607
200TMPO120.92757793764988151208598921696-98921704, 98925484-98925489, 98925558-98925565, 98925590-98925608, 98926601-98926633, 98926648-98926650, 98926653-98926656, 98926912, 98927011-98927014, 98927099-98927101, 98927255, 98927258-98927263, 98927540, 98927628-98927631, 98927641-98927649, 98927813-98927819, 98927908-98927938, 98928018, 98928070
201SLC25A3120.999081726354451108998995005
202GNPTAB120.9994696367011423771102158452, 102224427
203UNG120.998938428874731942109547737
204TRPV4120.94342507645261482616110221543, 110222224-110222235, 110224547-110224595, 110226252-110226256, 110230592-110230603, 110231398-110231399, 110232271, 110236561-110236584, 110246161-110246202
205ATXN2120.863267376966015393942111891521-111891522, 111891623-111891639, 111908416, 111926374, 111926387, 111926397-111926403, 111926449-111926451, 111926460, 111947752, 112036607-112036665, 112036683-112036851, 112036868, 112036875-112036910, 112036918-112036957, 112036975-112036979, 112036986-112037000, 112037005, 112037024-112037051, 112037059-112037151, 112037211, 112037223-112037229, 112037257-112037300, 112037313-112037318
206HNF1A120.98259493670886331896121434199, 121434507, 121435324, 121437089-121437096, 121437371, 121437380-121437382, 121438910-121438911, 121438927-121438932, 121438935-121438936, 121438947-121438954
207HPD120.9983079526226721182122296618-122296619
208PUS1120.887850467289721441284132414268-132414277, 132414500-132414504, 132414510, 132414519, 132414521-132414534, 132416811-132416812, 132423766, 132425999, 132426006, 132426055-132426092, 132426176-132426190, 132426310, 132426314-132426316, 132426319, 132426412-132426433, 132426471-132426498
209SACS130.99425036390102791374023906080-23906081, 23907119, 23907618-23907624, 23907916-23907922, 23908428, 23910572, 23911580, 23911727-23911735, 23911817-23911820, 23911874, 23912033, 23913159, 23913244, 23913926-23913928, 23913934-23913935, 23914807-23914811, 23915005-23915019, 23915086-23915087, 23915442, 23932475-23932487, 23945289
210B3GALTL130.9926519706078811149731774222-31774232
211BRCA2130.976601345422642401025732893218-32893227, 32893431-32893434, 32900243-32900247, 32903580-32903592, 32903618-32903629, 32906499, 32907135-32907137, 32907399-32907401, 32910522-32910525, 32910703-32910728, 32910965, 32911422-32911444, 32911583-32911598, 32911705-32911706, 32911840, 32912005, 32912070, 32912116-32912117, 32912231-32912234, 32912414-32912422, 32912440-32912443, 32912449, 32912528-32912530, 32912536-32912539, 32912704-32912710, 32913392, 32913716-32913718, 32913759-32913778, 32914196-32914199, 32914884, 32918744-32918750, 32930707-32930709, 32950838, 32953633-32953641, 32953950-32953952, 32954273, 32968853, 32968856-32968859, 32968917-32968928, 32972321-32972330
212SPG20130.999500249875061200136909304
213FREM2130.9972660357518426951039261527-39261531, 39261568-39261570, 39261682-39261684, 39261687, 39261801-39261804, 39261989-39261997, 39264898
214TNFSF11130.99895178197065195443148565
215SUCLA2130.9899425287356314139248528291, 48528294, 48528297, 48570978-48570988
216RB1130.999641191245071278748939034
217ATP7B130.999772623919961439852523881
218ZIC2130.860537836147592231599100634390-100634428, 100634466-100634467, 100634584-100634585, 100634591-100634601, 100635008-100635010, 100637293, 100637308-100637313, 100637698, 100637701-100637732, 100637739-100637780, 100637805-100637888
219PCCA130.9958847736625592187101101510-101101518
220ERCC5130.999764095305514239103519087
221COL4A1130.9990019960079855010110838790-110838793, 110864768
222F7130.516853932584276451335113760156-113760204, 113765019-113765060, 113765074-113765117, 113765124-113765130, 113768163-113768176, 113769974-113770059, 113770068-113770079, 113770084-113770096, 113770100, 113771080-113771100, 113771104, 113771167-113771172, 113771802-113771821, 113771826, 113771903-113771910, 113772737-113772760, 113772769-113772811, 113772852-113772854, 113772874-113772910, 113772953, 113772956, 113772968-113772973, 113772991, 113773002-113773005, 113773024-113773069, 113773079-113773099, 113773136-113773208, 113773233-113773256, 113773260, 113773288-113773322
223F10130.97409679618269381467113777170-113777196, 113777219-113777224, 113803826-113803830
224GRK1130.806146572104023281692114321738-114321744, 114321750, 114321757-114321761, 114321769-114321773, 114321785-114321823, 114321883, 114321919-114321920, 114321926-114321940, 114322033-114322084, 114322090, 114322096-114322100, 114322104, 114322118-114322136, 114322150, 114322157-114322159, 114322163-114322183, 114322191-114322197, 114322239-114322254, 114322276-114322277, 114322289, 114322359-114322376, 114324110-114324113, 114325821-114325829, 114325833-114325840, 114325892-114325901, 114325923-114325971, 114426047-114426053, 114426075-114426090, 114436010-114436012
225TEP1140.9964485032978228788420840949-20840953, 20841181, 20841501-20841511, 20843968-20843970, 20847201, 20850467-20850473
226RPGRIP1140.9992229992233386121785935-21785937
227PABPN1140.948968512486434792123790681-23790683, 23790700-23790702, 23790709, 23790752-23790760, 23790797, 23790910-23790924, 23790969-23790983
228MYH6140.999484536082473582023869543-23869545
229NRL140.99859943977591171424552014
230TGM1140.999592502037491245424724233
231FOXG1140.91700680272109122147029236624-29236626, 29236690, 29236704-29236706, 29236735, 29236782-29236803, 29236835-29236871, 29236878-29236881, 29236899-29236949
232COCH140.999395039322441165331355096
233CFL2140.99001996007984550135182629-35182633
234NKX2-1140.9825870646766221120636986620, 36986912-36986918, 36988369-36988381
235FANCM140.94664063770945328614745618117-45618131, 45623162, 45623953-45623954, 45623974-45624005, 45633757, 45642288-45642289, 45642367, 45642370, 45644274-45644291, 45644306-45644310, 45644314, 45644377-45644378, 45644406-45644412, 45644452-45644462, 45644539-45644540, 45644544, 45644556, 45644563, 45644567, 45644583, 45644586, 45644590-45644606, 45644610-45644613, 45644618, 45644677-45644715, 45644792-45644811, 45644880-45644894, 45645114-45645116, 45645130, 45645173-45645175, 45645222, 45645320, 45645372, 45645584, 45645676-45645693, 45645850-45645852, 45645854, 45645872, 45645990, 45646083, 45646088-45646089, 45646105, 45646126, 45650633-45650648, 45650711-45650717, 45650859-45650865, 45652980-45652989, 45653062-45653086, 45654572-45654576, 45668071-45668084, 45669149
236C14orf104140.9880668257756630251450092506, 50094847-50094848, 50100674-50100679, 50100774-50100778, 50100845-50100847, 50101012-50101013, 50101081-50101087, 50101115-50101118
237L2HGDH140.99856321839082139250734472, 50750731
238ATL1140.998796630565582166251057759-51057760
239OTX2140.966442953020133089457268808-57268829, 57270941-57270948
240SYNE2140.99937270797143132072464483278-64483281, 64491906-64491908, 64556380, 64557712-64557713, 64574254, 64625389, 64679552
241ZFYVE26140.99947506561684762068241757, 68241760, 68242692-68242693
242VSX2140.9705340699815832108674706400-74706424, 74706613, 74727548-74727550, 74727553-74727555
243EIF2B2140.9829545454545518105675471497, 75471509-75471510, 75471589-75471603
244MLH3140.9954149472718920436275508351, 75509101, 75513492, 75513706, 75513936, 75514171, 75514620, 75514634, 75514782, 75515244, 75515543, 75515671-75515678, 75516264
245POMT2140.996449178872618225377786969-77786976
246TSHR140.998257080610024229581534662-81534665
247GALC140.996598639455787205888434754-88434760
248TTC8140.994832041343678154889310165-89310172
249FBLN5140.994060876020798134792403537-92403544
250ATXN3140.9613259668508342108692548681-92548703, 92559599-92559600, 92559647-92559662, 92563068
251AMN140.04111600587371513061362103389028, 103389032-103389068, 103390048-103390162, 103390279, 103390290-103390315, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395834, 103395840-103395873, 103395992-103396018, 103396034-103396035, 103396038-103396067, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
252INF2140.5365333333333317383750105167707-105167735, 105167787, 105167832, 105167876, 105167883-105167936, 105167945-105167952, 105167963, 105167972, 105167988, 105167998-105168000, 105168037-105168047, 105169446-105169485, 105169539-105169557, 105169637-105169673, 105169681, 105169688, 105169714-105169740, 105169753-105169770, 105169784-105169791, 105172377-105172385, 105172444-105172451, 105172456-105172458, 105172462, 105172469-105172470, 105172482, 105173301-105173308, 105173314, 105173354-105173388, 105173590-105173591, 105173641-105173647, 105173650-105173651, 105173670-105173725, 105173740-105173825, 105173856-105174155, 105174165-105174222, 105174249-105174290, 105174293, 105174315-105174339, 105174781-105174854, 105174878-105174924, 105175012-105175022, 105175027, 105175677-105175700, 105175960-105175967, 105176009-105176037, 105176425-105176447, 105176465-105176490, 105176511-105176525, 105177274-105177295, 105177425-105177427, 105177430, 105177474-105177519, 105177966, 105178011-105178012, 105178015-105178036, 105178820-105178856, 105179170-105179184, 105179191, 105179193-105179217, 105179246-105179274, 105179285-105179326, 105179544-105179552, 105179586-105179646, 105179795-105179845, 105179865-105179869, 105179926-105179943, 105180540-105180542, 105180562-105180565, 105180607, 105180628-105180629, 105180649-105180652, 105180665-105180682, 105180752-105180756, 105180774-105180777, 105180784-105180785, 105180875-105180881, 105180922-105180930, 105180957-105180963, 105181031, 105181049-105181088, 105181108-105181145, 105181153-105181172, 105181644-105181658, 105181662
253NIPA1150.8202020202020217899023086234-23086411
254UBE3A150.9874429223744333262825616724-25616726, 25616812-25616840, 25616947
255SLC12A6150.999710396756441345334532999
256CHST14150.9336870026525275113140763413-40763425, 40763450-40763488, 40763527-40763533, 40763559-40763574
257TTBK2150.9973226238286510373543086842, 43086980, 43103886-43103888, 43103891-43103892, 43103899, 43103907, 43103946
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429RYR1190.982933121651122581511738980012-38980016, 38980724-38980733, 38983218, 38983222-38983229, 38985080, 38986857-38986874, 38986916-38986939, 38987049-38987052, 38987111, 38987500-38987508, 38987529-38987537, 38989755, 38995484, 38998413-38998432, 39055685-39055689, 39055716-39055737, 39055748-39055750, 39055774-39055788, 39055812-39055818, 39055837-39055840, 39055880, 39055897, 39055923-39055929, 39055939-39055999, 39056207-39056211, 39056217-39056219, 39056227, 39056237-39056239, 39056298-39056302, 39056305-39056307
430ACTN4190.93603801169591175273639138494-39138519, 39208683-39208685, 39214797-39214801, 39214861-39214871, 39214946, 39215073-39215082, 39215115-39215134, 39216374-39216382, 39216432-39216446, 39216476-39216478, 39216482-39216487, 39218653-39218657, 39219946-39219994, 39220040-39220051
431DLL3190.9838449111470130185739993455-39993463, 39993548-39993560, 39993591-39993597, 39994711
432PRX190.999316005471963438640909760-40909761, 40909765
433TGFB1190.993179880647918117341854245-41854247, 41858921, 41858928-41858931
434BCKDHA190.9499252615844567133841919981-41919986, 41925088, 41925091, 41925162-41925173, 41928218-41928222, 41928226-41928227, 41928636-41928637, 41928652, 41928654, 41929010-41929020, 41930396, 41930413, 41930418, 41930422, 41930426-41930428, 41930455-41930467, 41930509-41930513
435RPS19190.968036529680371443842364876-42364889
436ATP1A3190.96084828711256144367842470751-42470768, 42470806, 42470842-42470843, 42470849-42470850, 42470860-42470881, 42470920-42470933, 42470941-42470956, 42470959-42470962, 42471019-42471023, 42471353-42471354, 42471357, 42471901, 42480605-42480626, 42489223-42489255, 42489284
437ETHE1190.8379084967320312476544011054, 44012096-44012110, 44012127-44012170, 44012178-44012204, 44012927-44012950, 44015650, 44015653-44015663, 44031271
438BCAM190.93693693693694119188745312382-45312448, 45323962-45323979, 45323989, 45324037-45324063, 45324067-45324070, 45324079, 45324178
439ERCC2190.94349540078844129228345855495-45855505, 45864816-45864824, 45864864-45864880, 45867019, 45867071-45867090, 45867115-45867116, 45867119, 45867139-45867142, 45867153-45867169, 45867328, 45867341, 45867691-45867700, 45868107-45868117, 45868309, 45873440-45873458, 45873794-45873797
440SIX5190.9621621621621684222046268852-46268857, 46268908, 46268918-46268924, 46268975, 46269180-46269181, 46269692-46269693, 46270013-46270022, 46270150-46270156, 46270191, 46270200-46270206, 46271844-46271851, 46271966-46271981, 46272031-46272033, 46272042-46272046, 46272078-46272085
441DMPK190.9629629629629670189046274305-46274318, 46278289, 46280701-46280704, 46281845, 46281859-46281863, 46282723-46282725, 46285513-46285544, 46285576-46285578, 46285604-46285610
442FKRP190.9899193548387115148847259265-47259271, 47259378, 47260176-47260182
443DBP190.6104294478527638197849134111-49134114, 49134164-49134183, 49138852-49138853, 49138865-49139065, 49139086-49139087, 49139091-49139111, 49139115, 49139126, 49139128-49139135, 49139137-49139237, 49140146, 49140186-49140204
444BCAT2190.9830364715860920117949303444, 49303461-49303475, 49309795-49309798
445GYS1190.9710930442637864221449486093, 49494566-49494582, 49494615-49494624, 49494656-49494661, 49494677, 49494732-49494740, 49496297-49496299, 49496310-49496313, 49496325-49496337
446MED25190.92513368983957168224450321603, 50321608-50321616, 50321622-50321624, 50321697-50321701, 50321828-50321853, 50322432, 50331781-50331790, 50333195-50333196, 50333199, 50333205, 50333448-50333475, 50333768-50333786, 50335398, 50335409-50335414, 50338406-50338433, 50338801-50338815, 50339031, 50339034, 50339037, 50339146, 50339150-50339151, 50339487-50339492
447MYH14190.9927998690885344611150714025, 50728894-50728905, 50752993-50753002, 50760729-50760733, 50764759-50764769, 50764804-50764806, 50764858-50764859
448KCNC3190.84916446789798343227450823533-50823539, 50823591-50823592, 50826294-50826299, 50826327-50826341, 50826347, 50826379-50826401, 50826425-50826433, 50826467-50826474, 50826478, 50831886-50831892, 50831940-50831967, 50831976-50831983, 50831986-50832008, 50832044-50832048, 50832110-50832160, 50832191-50832339
449ETFB190.9894332372718511104151857405-51857415
450NLRP12190.9783427495291969318654304507, 54304615-54304629, 54307316-54307322, 54312993-54312994, 54312997, 54313407-54313415, 54313657-54313681, 54313786-54313794
451PRKCG190.9775549188156647209454392997-54392998, 54393189-54393205, 54401750, 54401759-54401764, 54409977-54409981, 54410069-54410084
452PRPF31190.62333333333333565150054625893, 54625959-54625966, 54626920-54626926, 54627188-54627189, 54627243, 54627878-54627884, 54627916-54627936, 54627977, 54629924-54629975, 54629983-54629989, 54631448-54631481, 54631511-54631572, 54631680-54631714, 54631742-54631752, 54632432-54632446, 54632465-54632492, 54632498-54632516, 54632525-54632560, 54632647-54632745, 54634738-54634785, 54634793-54634863
453TSEN34190.982851018220791693354695361-54695376
454NLRP7190.9951830443159915311455452835-55452849
455TNNT1190.8719898605830210178955644321-55644328, 55645434-55645440, 55645499-55645520, 55648480-55648494, 55649330, 55649421-55649427, 55652273-55652303, 55658051-55658053, 55658063-55658069
456TNNI3190.98850574712644760955665414-55665416, 55665498-55665501
457TPO20.9089935760171325528021481155, 1488371, 1497582-1497601, 1499856, 1507748, 1507754, 1520655-1520749, 1544366-1544376, 1544399-1544495, 1546205-1546206, 1546222-1546246
458RPS720.9863247863247985853623457-3623463, 3624133
459KLF1120.9896036387264516153910183844-10183859
460LPIN120.998129442573895267311911740, 11911743, 11911798-11911800
461APOB20.99284253578732981369221224803, 21224807-21224809, 21225006-21225012, 21225109-21225110, 21225120, 21225311-21225321, 21225348-21225365, 21225720-21225722, 21225830, 21226037-21226043, 21227165-21227168, 21227952-21227968, 21228137, 21228286, 21229980, 21232505-21232516, 21245740-21245747
462HADHA20.9856020942408433229226437922-26437954
463OTOF20.706539873206541759599426684783, 26688542-26688546, 26690263, 26691296-26691308, 26693461-26693462, 26695396-26695431, 26695438-26695459, 26695465-26695499, 26696030-26696078, 26696137-26696140, 26696145, 26696148-26696152, 26696274-26696281, 26696338-26696342, 26696387-26696390, 26696406, 26696417-26696431, 26696859-26696959, 26696976-26696978, 26697381-26697456, 26697469-26697502, 26697521, 26697536-26697541, 26698242-26698266, 26698305-26698340, 26698349-26698361, 26698782-26698817, 26698851-26698877, 26698884-26698906, 26698996-26699178, 26699759-26699911, 26700048-26700049, 26700053-26700089, 26700092-26700098, 26700105-26700156, 26700286-26700328, 26700341-26700374, 26700517-26700556, 26700577-26700617, 26702132-26702191, 26702216-26702222, 26702231, 26702247-26702252, 26702363-26702383, 26702444-26702465, 26702471-26702518, 26703071-26703094, 26703102-26703108, 26703141-26703171, 26703654-26703728, 26703795-26703813, 26703847-26703877, 26705274-26705302, 26705317-26705369, 26705380-26705399, 26705431-26705438, 26706330-26706359, 26706384-26706389, 26706397-26706403, 26707342-26707352, 26707457-26707490, 26707500-26707501, 26712107, 26712140-26712153, 26712560-26712566, 26712595, 26741938, 26741943-26741945
464SPAST20.99675850891416185132289217-32289220, 32366973-32366974
465CYP1B120.9031862745098158163238297933-38297947, 38298300-38298303, 38298436-38298442, 38301926-38301943, 38301977-38301979, 38301982-38301992, 38301995, 38302011-38302033, 38302199-38302214, 38302255-38302271, 38302278, 38302282-38302285, 38302293-38302294, 38302411-38302427, 38302480-38302498
466SOS120.96376811594203145400239222288-39222303, 39222408, 39222413, 39224549-39224566, 39241008-39241041, 39250010, 39281759-39281766, 39281928-39281964, 39283936, 39285818-39285821, 39285888-39285900, 39294831-39294841
467ABCG820.93422354104847133202244078896, 44099115, 44099141-44099149, 44099187-44099250, 44099362-44099366, 44099391-44099397, 44099407-44099414, 44099433, 44100971-44100987, 44100991, 44101094, 44101103-44101112, 44102339, 44102366-44102368, 44102539-44102542
468LRPPRC20.9954599761051419418544115795, 44174883-44174887, 44204157-44204163, 44223079-44223084
469SLC3A120.997570456754135205844539832, 44539835-44539838
470EPCAM20.99259259259259794547601123-47601129
471MSH220.999643493761141280547710060
472MSH620.9804065638011380408348010468-48010516, 48010538-48010542, 48010550, 48010554, 48010558-48010559, 48010570-48010575, 48010611, 48010618-48010632
473LHCGR20.996666666666677210048982764-48982770
474NRXN120.999774011299431442550765440
475EFEMP120.9844804318488523148256094283, 56102086-56102106, 56103862
476FANCL20.99911347517731112858431290
477ATP6V1B120.9915693904020813154271163085-71163097
478MCEE20.99058380414313553171337159-71337163
479DYSF20.987421383647880636071738946-71738949, 71780215, 71825699, 71825863-71825866, 71825873, 71827910, 71827928, 71829911, 71838683-71838684, 71838691, 71847677-71847739
480SPR20.956743002544533478673114607-73114640
481ALMS120.9984804862444191250473613032-73613034, 73676926-73676931, 73676939, 73676950, 73678640, 73679894, 73679907-73679912
482MOGS20.9932378679395417251474688500-74688502, 74689274-74689276, 74689848-74689851, 74691781, 74692356-74692361
483GGCX20.996047430830049227785780471, 85785650, 85785664, 85785668, 85785673-85785674, 85785686, 85788016-85788017
484EIF2AK320.9817964786630961335188874679, 88876144-88876145, 88882970-88882974, 88883028, 88887566-88887578, 88888299-88888334, 88926730-88926732
485TMEM12720.906555090655516771796930898-96930910, 96930956-96930968, 96931028-96931034, 96931067-96931076, 96931082-96931105
486SNRNP20020.98284199032912110641196942717, 96949293-96949298, 96951076-96951078, 96952779-96952782, 96954423-96954432, 96955069-96955100, 96956079-96956093, 96956135-96956141, 96956162-96956171, 96958791-96958798, 96962685-96962689, 96967345-96967353
487ZAP7020.9876344086021523186098349388-98349410
488RANBP220.898087855297169869675109336105, 109336117, 109345588-109345602, 109347230-109347234, 109347250, 109347835-109347859, 109352142, 109352185-109352209, 109352643, 109352684-109352705, 109357110-109357116, 109363235-109363254, 109365407-109365441, 109365547, 109365570, 109367720-109367733, 109367841-109367889, 109368064-109368111, 109368406-109368450, 109369945, 109370014-109370019, 109370309, 109370398, 109371380-109371402, 109371495-109371533, 109371632-109371662, 109374952, 109378557-109378568, 109378578-109378627, 109381272-109381273, 109381910-109381947, 109382087-109382093, 109382521, 109382626-109382636, 109382787-109382793, 109382943-109382944, 109382962-109383011, 109383084-109383113, 109383124-109383148, 109383204-109383232, 109383263-109383301, 109383315-109383362, 109383541, 109383653-109383682, 109383771, 109383869-109383896, 109383974-109383986, 109384393-109384440, 109384465-109384488, 109384628-109384641, 109384730-109384738, 109384782-109384822, 109388207-109388208, 109388213, 109397825, 109400192, 109400203
489MERTK20.98966666666667313000112686989-112686997, 112740450-112740471
490GLI220.922495274102083694761121555015-121555019, 121555022-121555029, 121708960-121708962, 121708965-121708967, 121708972-121708986, 121728092-121728115, 121728181-121728182, 121729589-121729593, 121729635-121729639, 121745808-121745815, 121745820-121745821, 121745988-121745998, 121746142-121746185, 121746236-121746239, 121746307, 121746346-121746351, 121746512-121746518, 121746585-121746606, 121746760-121746767, 121747073-121747084, 121747134-121747183, 121747213-121747238, 121747371-121747374, 121747398-121747430, 121747460, 121747467-121747478, 121747491-121747500, 121747536-121747547, 121747666-121747667, 121747713-121747721, 121747726, 121747732, 121748185-121748196, 121748222
491PROC20.93434343434343911386128180493-128180500, 128180614, 128180665-128180688, 128180704-128180708, 128180858-128180863, 128183724-128183770
492CFC120.83184523809524113672131279063, 131279066, 131279071, 131279079-131279080, 131279533, 131279620-131279629, 131280365, 131280368-131280370, 131280376, 131280379-131280380, 131280383, 131280435-131280470, 131280742-131280746, 131280759, 131280776-131280822
493RAB3GAP120.98845892735913342946135883816, 135888182-135888186, 135888271, 135888274-135888286, 135890506, 135891483, 135893323-135893325, 135911259, 135926294-135926300, 135926348
494LCT20.9984439834024995784136564705-136564712, 136566591
495MCM620.98986212489862252466136626212-136626221, 136626287-136626300, 136626305
496ZEB220.9983539094650263645145156195, 145156198, 145156539-145156542
497NEB20.9918894562931816219974152403943-152403944, 152432209-152432242, 152432665-152432687, 152432714-152432763, 152432782-152432802, 152432824-152432840, 152432856-152432868, 152534281, 152586163
498CACNB420.9993602047344811563152732984
499SCN2A20.98737121967431766018166166893-166166896, 166170577, 166234129-166234144, 166237627-166237650, 166237653, 166237659, 166237679-166237707
500GALNT320.98159831756046351902166613602, 166621436-166621448, 166621453, 166627116-166627135
501SCN1A20.98782724695681735997166847917, 166852523-166852524, 166852595, 166856241-166856246, 166856249-166856250, 166868670, 166892954-166892972, 166905429-166905432, 166908239, 166908291-166908316, 166911250-166911255, 166915192-166915193, 166929938-166929939
502SCN9A20.99056285810583565934167055255, 167055919-167055937, 167060569-167060597, 167060648, 167060658, 167083084, 167083158, 167133692, 167159604, 167160761
503ABCB1120.9979828542612283966169781313, 169783725-169783730, 169873306
504ITGA620.99328449328449223276173351764-173351765, 173351857-173351861, 173362811-173362825
505AGPS20.9989883662114321977178370302-178370303
506PRKRA20.992569002123147942179312237-179312243
507DFNB5920.94428706326723591059179318314-179318347, 179319081-179319094, 179323237-179323238, 179325164-179325172
508TTN20.99839398292235161100248179417732-179417733, 179417746-179417748, 179419752-179419754, 179431370, 179431501, 179433958, 179434141, 179434145, 179434753, 179437938, 179438002, 179440656-179440660, 179444000, 179447728-179447729, 179447801, 179451928-179451932, 179455014, 179455122, 179455824, 179456896, 179457554, 179457620, 179458391, 179467191, 179477670-179477672, 179477675-179477678, 179481936, 179485202-179485204, 179486037, 179486336, 179497722, 179498042, 179499168, 179499239-179499240, 179500761-179500764, 179501405, 179510671-179510674, 179514891-179514925, 179516463, 179516469, 179516474-179516476, 179523946-179523952, 179536817, 179542429, 179542435-179542437, 179542443, 179542520, 179542557, 179542566, 179542578, 179544693-179544694, 179547529-179547534, 179550303-179550309, 179552865, 179552940, 179556760-179556761, 179558700, 179560771, 179591899, 179634495, 179634500-179634507, 179643959, 179659809-179659815
509CERKL20.93433395872421051599182438497-182438501, 182468575-182468601, 182468626-182468627, 182468638-182468668, 182468674-182468686, 182468709, 182468742-182468743, 182468747, 182468752-182468756, 182468761, 182468766-182468772, 182468783, 182468792, 182468796-182468803
510COL3A120.98932060895251474401189854165-189854166, 189856910, 189860444, 189871663-189871671, 189871674-189871681, 189872613-189872624, 189873845-189873851, 189875020-189875021, 189875431, 189876425-189876428
511COL5A220.9993333333333334500189910541, 189975076-189975077
512PMS120.99499821364773142799190719127-190719140
513STAT120.9991122947181522253191859800-191859801
514HSPD120.97154471544715491722198351835-198351882, 198352682
515CASP1020.995538559592171569202050519, 202050770-202050774, 202050833
516CASP820.9839208410637261617202137468-202137470, 202149620-202149626, 202149629, 202149667-202149678, 202149888-202149890
517ALS220.99416968234821294974202575714-202575742
518BMPR220.99647096567212113117203378493-203378499, 203379615, 203420464-203420466
519NDUFS120.99633699633782184207018361-207018368
520FASTKD220.939521800281291292133207631503-207631528, 207631564-207631570, 207631595-207631612, 207631629, 207631633-207631648, 207631723-207631730, 207631844-207631849, 207631910-207631912, 207631966-207631972, 207631975, 207631979, 207631994, 207631999, 207632005, 207634815-207634820, 207635935, 207635978-207635983, 207636701, 207636708-207636709, 207652766, 207652828-207652841, 207652871
521CPS120.9984454807905874503211466933-211466934, 211469903-211469906, 211469909
522ABCA1220.99036979969183757788215815649-215815650, 215818578-215818580, 215846924-215846945, 215852472-215852473, 215854083, 215854088-215854093, 215854146-215854174, 215854183-215854184, 215854306, 215854315-215854317, 215854327, 215855438, 215865536, 215866392
523PNKD20.9948186528497461158219204764, 219206340, 219206704-219206707
524WNT10A20.9976076555023931254219745829, 219747139, 219757608
525DES20.99009200283086141413220283259, 220283706-220283718
526OBSL120.979968371112281145691220416911-220416918, 220417407-220417419, 220417657-220417667, 220435668-220435693, 220435730-220435754, 220435887-220435904, 220435942-220435954
527COL4A420.9998025276461315064227920681
528COL4A320.9998005186515115013228163493
529SLC19A320.9979879275653931491228563530, 228563533-228563534
530CHRND20.96782496782497501554233390934-233390949, 233393660, 233394649-233394664, 233396346-233396362
531CHRNG20.9942084942084991554233409518-233409526
532COL6A320.98573526326831369534238244942, 238245047, 238249095, 238249098-238249106, 238249168, 238249171-238249173, 238249390-238249399, 238249499-238249500, 238271968, 238273050-238273051, 238274374-238274380, 238275570, 238303233-238303245, 238303304, 238303307-238303330, 238303334, 238303431, 238303480-238303517, 238303564-238303582
533AGXT20.850720949957591761179241808283-241808294, 241808346-241808355, 241808391-241808418, 241808591-241808601, 241808627-241808631, 241808712-241808746, 241808756-241808779, 241810083, 241810093-241810125, 241810766-241810770, 241810841-241810849, 241810858-241810859, 241815367
534D2HGDH20.908045977011491441566242689587-242689612, 242689693-242689709, 242695345, 242695365, 242707213, 242707217-242707228, 242707242-242707275, 242707303-242707338, 242707344-242707358, 242707384
535AVP200.751515151515151234953063348-3063378, 3063422, 3063425, 3063428, 3063440-3063441, 3063628-3063699, 3063731-3063735, 3063746, 3063816-3063824
536PANK2200.99883245767659217133891454-3891455
537PROKR2200.99739583333333311525283164-5283166
538MKKS200.996497373029776171310389399, 10389406-10389409, 10393695
539JAG1200.998085862729017365710626731-10626732, 10653389-10653390, 10653606, 10653615-10653616
540C20orf7200.9894026974951811103813782223-13782233
541SNTA1200.92555994729908113151832000442-32000448, 32000451-32000453, 32000572, 32031164-32031189, 32031258-32031264, 32031321-32031339, 32031361-32031410
542GDF5200.996679946879155150634025085-34025087, 34025091, 34025094
543SAMHD1200.9893673577884120188135526362, 35526905, 35526909, 35545400-35545406, 35545413, 35547838, 35547869-35547874, 35547879, 35563434
544HNF4A200.9915789473684212142543052769, 43052787-43052790, 43052815-43052821
545ADA200.99816849816852109243257767-43257768
546CTSA200.9819639278557127149744520237-44520252, 44521887-44521893, 44526377-44526379, 44527055
547CD40200.99400479616307583444757675-44757679
548SALL4200.9924098671726824316250400979-50400993, 50407551-50407557, 50408482, 50408485
549VAPB200.982240437158471373256993355, 56993359-56993370
550STX16200.99284253578732797857245634-57245640
551GNAS200.98102981029811473857415462-57415475
552GNAS200.99710982658969311457428449, 57429489-57429492, 57429712, 57429715, 57429754, 57429757
553COL9A3200.87153284671533264205561448417-61448494, 61448919-61448933, 61448962, 61448965, 61448970-61448973, 61449896-61449905, 61451284-61451293, 61453500-61453504, 61453943-61453951, 61455797-61455823, 61455840, 61456320-61456373, 61457186, 61460277, 61460317, 61460839, 61461721-61461738, 61461905-61461925, 61464405-61464407, 61467539-61467541
554CHRNA4200.0950106157112531705188461978090-61978127, 61978136-61978181, 61978183-61978199, 61978203-61978215, 61981005-61981217, 61981229-61981360, 61981376-61981384, 61981410, 61981415-61981417, 61981427-61981713, 61981719-61981779, 61981790, 61981803-61981837, 61981847-61982135, 61982142-61982183, 61982198-61982263, 61982291-61982302, 61982306-61982307, 61982325-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
555KCNQ2200.333715158457431745261962037999-62038026, 62038042-62038070, 62038092-62038134, 62038145-62038187, 62038206-62038492, 62038511-62038563, 62038569-62038638, 62038657-62038662, 62038669-62038728, 62039766-62039800, 62039812-62039822, 62039848-62039866, 62039875-62039889, 62044857-62044895, 62044930, 62046270-62046284, 62046327-62046345, 62046374-62046391, 62046448, 62055531, 62055554, 62059727-62059788, 62062717, 62062720-62062722, 62065162-62065168, 62065185-62065206, 62065246-62065253, 62069985, 62070016-62070024, 62070037, 62070951-62070982, 62071021-62071060, 62073759-62073884, 62076012-62076056, 62076066-62076187, 62076591-62076616, 62076624-62076717, 62078100-62078122, 62078143-62078173, 62078176-62078177, 62103521-62103816
556SOX18200.18701298701299939115562679519-62679577, 62679626-62679632, 62679647-62679680, 62679697-62679737, 62679745-62679786, 62679804-62679847, 62679858-62679907, 62679934-62679989, 62680019-62680064, 62680072-62680104, 62680118-62680160, 62680171-62680174, 62680185-62680275, 62680285-62680315, 62680512-62680869
557APP210.998702983138783231327394182-27394184
558BACH1210.993215739484415221130693827, 30714838, 30715124-30715135, 30715145
559IFNGR2210.9280078895463573101434775850-34775922
560RCAN1210.967061923583662575935987133-35987143, 35987169-35987174, 35987195, 35987202, 35987277, 35987280-35987284
561CLDN14210.99027777777778772037833274-37833280
562HLCS210.999541494727191218138126574
563TMPRSS3210.9890109890109915136543795862, 43795869, 43803182, 43805535-43805546
564CSTB210.952861952861951429745196085-45196098
565AIRE210.255799755799761219163845705890-45705960, 45705969-45706012, 45706447-45706588, 45706861-45706872, 45706914-45706987, 45707403-45707422, 45707426, 45707466-45707474, 45708228-45708246, 45708253-45708278, 45708298-45708341, 45709540-45709547, 45709572-45709603, 45709615-45709652, 45709666-45709685, 45709871-45709884, 45709890-45709901, 45709927-45709932, 45709936-45709951, 45710978-45711033, 45711040-45711085, 45712202-45712284, 45712876-45712879, 45712905-45713058, 45713690, 45713696-45713732, 45713736, 45713759-45713779, 45713783, 45713789-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717574
566ITGB2210.86839826839827304231046306739-46306757, 46306789-46306792, 46308608-46308689, 46308729-46308744, 46308767-46308810, 46309191-46309196, 46309242-46309244, 46309316-46309317, 46309362, 46309369, 46309374, 46309392-46309406, 46309924-46309948, 46310001, 46310010-46310012, 46310018, 46310040, 46311738-46311759, 46311892-46311904, 46313330-46313335, 46313442, 46314900, 46318985-46319001, 46320254-46320255, 46320348-46320358, 46326838-46326842, 46326851
567COL18A1210.511680911680912571526546875466, 46875470-46875481, 46875487-46875489, 46875592-46875619, 46875684, 46875696-46875706, 46875831-46875840, 46875931-46875975, 46876179-46876208, 46876281-46876323, 46876361-46876363, 46876410-46876414, 46876467, 46876470-46876471, 46876533-46876560, 46876580, 46876614, 46876618-46876619, 46876651, 46876654-46876656, 46876683-46876698, 46876705, 46876769, 46876773-46876782, 46888174-46888195, 46888226-46888257, 46888324-46888331, 46888391-46888409, 46888530-46888555, 46888584-46888600, 46888670-46888681, 46893850, 46893862, 46893889-46893890, 46895398, 46896320, 46896325-46896370, 46897789, 46898255-46898258, 46899848-46899853, 46899861-46899864, 46899984-46900004, 46900050-46900058, 46900411, 46900415-46900430, 46900640-46900675, 46900729-46900731, 46906775-46906794, 46906810-46906906, 46907361-46907381, 46907405-46907412, 46908332-46908334, 46908340-46908358, 46909400-46909435, 46910189-46910218, 46910234-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915320, 46915331-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925856, 46925864-46925880, 46927475-46927507, 46929289-46929366, 46929400-46929426, 46929437-46929471, 46929498-46929515, 46929991-46930081, 46930099-46930129, 46930146-46930161, 46930171-46930175, 46931025-46931096, 46931109-46931140, 46932103-46932124, 46932140-46932232, 46932262-46932302
568COL6A1210.80725623582766595308747401765-47401822, 47401830-47401861, 47402548-47402625, 47402667-47402677, 47404183-47404205, 47404235-47404261, 47404276-47404278, 47404287-47404289, 47404291, 47404312-47404327, 47404362-47404383, 47406451-47406480, 47406485-47406488, 47406541-47406544, 47406595, 47406873-47406875, 47406883-47406913, 47406922-47406934, 47406945-47406986, 47407069-47407080, 47407424-47407433, 47407524-47407568, 47409000-47409001, 47409025-47409038, 47409523, 47409527, 47409551-47409566, 47410172-47410198, 47410292-47410328, 47414142-47414143, 47418853-47418855, 47419588-47419606, 47423515-47423518
569COL6A2210.218300653594772392306047531405, 47531409, 47531418-47531502, 47531893, 47531915-47531929, 47531933-47531943, 47531951-47531956, 47531968-47531976, 47532004, 47532012, 47532022-47532033, 47532051-47532095, 47532100, 47532106-47532118, 47532162, 47532170, 47532174-47532177, 47532180, 47532183, 47532246, 47532251-47532275, 47532284-47532315, 47532342-47532387, 47532424-47532425, 47532462-47532487, 47532726-47532736, 47533922-47533941, 47533952, 47533984-47533987, 47535786-47535788, 47535792-47535799, 47535923-47535926, 47535934-47535941, 47535953-47535959, 47535962, 47536291-47536317, 47536565-47536591, 47536684-47536720, 47537314-47537329, 47537354-47537367, 47537788-47537838, 47537850, 47538528-47538590, 47538944-47539013, 47539020-47539033, 47539702-47539764, 47540429-47540456, 47540474-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542420, 47542445, 47542789-47542851, 47544565-47544584, 47544590-47544627, 47544799-47544834, 47545180-47545225, 47545379-47545427, 47545449-47545531, 47545699-47545745, 47545754-47545833, 47545851-47546148, 47546429-47546455, 47551868-47551961, 47551974-47551979, 47551984-47552104, 47552110-47552466
570COL6A221034234247552183-47552524
571FTCD210.032595325953261573162647556901-47556987, 47557153-47557248, 47558422-47558457, 47558467-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570362, 47570371-47570381, 47570391-47570439, 47571472-47571530, 47571551-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575385-47575387, 47575394-47575437
572PCNT210.99720307661572281001147786699, 47811104-47811106, 47848360-47848383
573PRODH220.738768718802471180318900742-18900767, 18900770, 18900773-18900782, 18900788, 18900791, 18900966, 18900969-18900977, 18901004-18901038, 18904410, 18904414, 18904433, 18904470, 18905931-18905941, 18905947, 18905964, 18906991-18907019, 18907300-18907302, 18908855-18908864, 18908875, 18908890-18908922, 18909871-18909872, 18910346, 18910414-18910416, 18910422-18910423, 18910434-18910444, 18910658-18910664, 18912582, 18912665, 18912678, 18913234, 18918546, 18918554, 18918557, 18918570, 18918582-18918621, 18918654, 18918682-18918703, 18923528-18923611, 18923628-18923680, 18923741-18923800
574GP1BB220.06763285024154657962119711093-19711102, 19711377-19711474, 19711483-19711498, 19711512-19711539, 19711550-19711742, 19711748-19711981
575TBX1220.70362903225806441148819747167-19747168, 19747195-19747200, 19748428-19748623, 19748652-19748684, 19748698, 19748701, 19748742-19748743, 19753330-19753334, 19753343-19753345, 19753425-19753431, 19753441-19753445, 19753449, 19753457-19753471, 19753478-19753505, 19753912-19753926, 19753929, 19753939-19753956, 19753965-19754004, 19754030-19754043, 19754088-19754094, 19754191-19754193, 19754196, 19754277-19754312, 19754381
576SMARCB1220.944732297063964115824134053-24134073, 24135746-24135752, 24135874-24135875, 24145508-24145530, 24145552-24145553, 24145558, 24145605-24145609, 24175857-24175859
577UPB1220.993939393939397115524906770-24906774, 24919707, 24919710
578HPS4220.9952651515151510211226849305-26849311, 26860618-26860619, 26862215
579CHEK2220.87677455990914217176129083927-29083965, 29085165-29085187, 29090086-29090092, 29091142, 29091200, 29091715-29091721, 29099495-29099496, 29099506, 29115431-29115459, 29115471, 29120965-29120972, 29121055-29121062, 29121269-29121292, 29126408-29126412, 29126432-29126490, 29126536, 29130521
580NF2220.9893736017897119178830000020-30000023, 30000067-30000080, 30060980
581TCN2220.9563862928348956128431007035-31007037, 31010448-31010450, 31011385-31011391, 31011588-31011599, 31011610, 31022447-31022476
582DRG1220.999094202898551110431796689
583LARGE220.996036988110969227133679198, 33679204-33679211
584MYH9220.97433282338943151588336688097-36688102, 36689419-36689421, 36689424, 36689427-36689430, 36689452, 36696188-36696202, 36696897-36696921, 36696987-36696993, 36697580-36697589, 36697616-36697619, 36698697-36698699, 36698702-36698707, 36700041-36700060, 36700100-36700101, 36701116-36701134, 36702035, 36702057, 36702460-36702467, 36702472-36702473, 36702652-36702653, 36712685-36712695
585TRIOBP220.9254719639335529709838120006-38120051, 38120222-38120228, 38120300-38120306, 38120369-38120375, 38120426-38120453, 38120542, 38120683-38120689, 38120807-38120823, 38121824-38121854, 38121856-38121863, 38122095-38122096, 38129314-38129331, 38129355-38129370, 38129381-38129419, 38130465-38130472, 38130477-38130480, 38130522-38130545, 38130565-38130570, 38130639-38130678, 38130724-38130764, 38130838-38130841, 38130881-38130925, 38130940, 38131010-38131019, 38131028-38131090, 38131113, 38131170, 38131213, 38131266, 38131388-38131394, 38151125, 38153886, 38153925, 38153928, 38154126, 38154132, 38155245, 38161715-38161731, 38161752, 38165319-38165328, 38167698-38167700
586SOX10220.996431120628125140138379545-38379549
587PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
588PLA2G6220.65716646014044830242138508168-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511569, 38511595-38511629, 38511633-38511659, 38511679-38511688, 38512082-38512218, 38516848, 38516851, 38516874-38516916, 38519109-38519143, 38519155-38519182, 38519210-38519212, 38519231-38519259, 38522386-38522392, 38524312-38524325, 38524332, 38524347, 38524402, 38525465, 38525547, 38528891, 38528900-38528906, 38528909, 38530995-38531005, 38531062-38531065, 38531068-38531073, 38531083, 38541454
589EP300220.9986197377501710724541545121-41545129, 41574210
590TNFRSF13C220.244455542321390-42321442, 42321472-42321496, 42321509-42321525, 42321533-42321535, 42322105-42322134, 42322141-42322143, 42322145, 42322153-42322190, 42322198-42322335, 42322642-42322777
591CYB5R3220.952538631346584390643026903-43026912, 43027445-43027456, 43045301-43045321
592TRMU220.9273301737756792126646731692-46731726, 46731735, 46746289-46746294, 46746331-46746335, 46748023, 46748197-46748210, 46749665, 46749672, 46749725, 46751341-46751342, 46751350, 46751354, 46751437, 46751456, 46751908, 46751911-46751918, 46751940, 46751946-46751949, 46751961, 46752865-46752867, 46752892-46752894
593ALG12220.92638036809816108146750301520-50301529, 50301577-50301580, 50303612-50303628, 50303677-50303698, 50303706, 50303720, 50304085, 50304139, 50304145-50304170, 50307140-50307159, 50307275, 50307278, 50307283, 50307290, 50307360
594MLC1220.9770723104056426113450502507-50502509, 50502552-50502558, 50502593-50502598, 50502624-50502627, 50508980-50508985
595SCO2220.942571785268414680150962118, 50962174-50962175, 50962440-50962462, 50962517-50962535, 50962586
596TYMP220.51414768806073704144950964207-50964260, 50964264-50964265, 50964268-50964270, 50964284-50964322, 50964342-50964347, 50964430-50964547, 50964568-50964570, 50964705-50964715, 50964742-50964759, 50964764, 50964768-50964769, 50964782-50964818, 50964836-50964905, 50965005-50965088, 50965112-50965167, 50965595-50965674, 50965684-50965712, 50966050-50966057, 50966135, 50967565-50967568, 50967748-50967758, 50967947-50967958, 50967988-50968014, 50968033-50968034, 50968071-50968072, 50968076, 50968104-50968126
597ARSA220.7742782152231344152451063574-51063598, 51063607-51063650, 51063658-51063695, 51063721-51063727, 51063760, 51063763-51063773, 51063778-51063781, 51063796-51063892, 51064039, 51064066-51064104, 51064109, 51064374-51064391, 51064423-51064426, 51064429-51064437, 51064452-51064482, 51064645, 51065100, 51065364-51065366, 51065407-51065413, 51065760, 51066085
598SHANK3220.649313501144161839524451113070-51113132, 51113476-51113679, 51115051-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133234-51133236, 51133239-51133244, 51133252, 51133286-51133301, 51133310-51133340, 51133355-51133384, 51135671-51135719, 51135951-51136143, 51137133, 51137197-51137216, 51143253-51143255, 51144565-51144580, 51158659, 51158749-51158772, 51158840-51158875, 51158913, 51158922-51158923, 51158932, 51158951-51158957, 51158992-51159034, 51159090, 51159134-51159158, 51159185-51159226, 51159251-51159265, 51159288-51159314, 51159353-51159358, 51159431-51159434, 51159500-51159508, 51159713, 51159716-51159717, 51159933, 51160855, 51160861-51160862, 51169185, 51169225, 51169311-51169317, 51169379-51169426, 51169519-51169553, 51169561-51169580, 51169623-51169667, 51169701-51169733
599FANCD230.97441123188406113441610083363-10083369, 10088299, 10088308, 10088399-10088404, 10114941-10114947, 10122785, 10123052-10123066, 10130179, 10131989-10131994, 10131999-10132023, 10132060-10132069, 10133913-10133926, 10134978, 10136884-10136896, 10140459-10140461, 10140557, 10140570
600VHL30.99376947040498464210183672-10183674, 10183801
601SCN5A30.9983019188317210588938616912-38616920, 38622467
602TMIE30.7385620915032712045946742860-46742894, 46742939-46742944, 46742969-46742999, 46743008-46743031, 46743045, 46743048-46743070
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725COL11A260.998272884283259521133138124-33138130, 33139281, 33139286
726SYNGAP160.9786706349206386403233388042-33388108, 33393628-33393635, 33411431, 33411548-33411556, 33411644
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730PRPH260.9884726224783912104142672145-42672156
731CUL760.999215224641954509743006600-43006603
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733RUNX260.9674329501915751156645390479-45390529
734CD2AP60.999479166666671192047563687
735MUT60.9604971149578389225349409554-49409624, 49409666, 49409674-49409676, 49409679-49409681, 49416534, 49419391, 49421306, 49421341-49421347, 49423933
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740COL9A160.999638467100511276670972999
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743LCA560.9923591212989516209480197021-80197035, 80202342
744BCKDHB60.992366412213749117980881051-80881059
745PDSS260.985181200107533475-107533476, 107655403-107655405, 107655428, 107780266-107780277
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747OSTM160.91442786069652861005108370522-108370524, 108395482-108395489, 108395699-108395752, 108395835-108395855
748FIG460.9966960352422992724110048345-110048348, 110048356, 110098219, 110106173-110106175
749WISP360.996425379803441119112389598-112389601
750RSPH4A60.9990701999070222151116944039-116944040
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752GJA160.9939077458659771149121768922-121768928
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756PEX360.97415329768271291122143780323-143780326, 143792553-143792568, 143793302-143793310
757EPM2A60.998995983935741996145956449
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759TBP60.877450980392161251020170870992-170871109, 170871132-170871138
760LFNG70.4526315789473762411402559496-2559721, 2559730-2559796, 2559804-2559927, 2564329-2564377, 2564935-2564952, 2565062-2565105, 2565878-2565898, 2565901, 2565916, 2565973, 2565976-2565987, 2566022-2566026, 2566029-2566030, 2566033-2566036, 2566481-2566488, 2566494-2566501, 2566527-2566555, 2566811-2566812, 2566819, 2566840
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763DNAH1170.99852637783672201357221603864-21603867, 21630563-21630574, 21630903-21630906
764KLHL770.9892106757524119176123164330-23164334, 23164343, 23164701, 23164718-23164726, 23207488-23207490
765HOXA170.997023809523813100827135317-27135319
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767GARS70.9932432432432415222030649261-30649266, 30656868-30656876
768RP970.9984984984985166633134848
769GLI370.999367488931063474342005678, 42006039-42006040
770PGAM270.99868766404199176244104516
771GCK70.9693076374018643140144186084-44186093, 44186098-44186103, 44186114-44186115, 44187420-44187421, 44190638-44190650, 44191872-44191877, 44191915, 44192907, 44192958, 44193058
772CCM270.85168539325843198133545039933-45039962, 45077998-45078001, 45113142-45113170, 45113869-45113871, 45113881-45113938, 45113984-45113996, 45115400, 45115403-45115408, 45115414-45115417, 45115424, 45115428-45115429, 45115477-45115480, 45115613-45115655
773DDC70.9958419958426144350530929-50530934
774EGFR70.999174236168463363355087044-55087045, 55242421
775GUSB70.9708588957055257195665429314-65429316, 65429323-65429325, 65439399-65439407, 65439418, 65439513-65439518, 65439561-65439566, 65439654-65439666, 65439930, 65439971-65439977, 65444742, 65445253-65445255, 65446995-65446998
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777KCTD770.95517241379313987066094142-66094180
778NCF170.961212121212123282572637917, 72639983-72639989, 72640027-72640039, 72645846, 72645864-72645868, 72645875-72645876, 72645927, 72648713, 72648748
779ELN70.82436781609195382217573442518-73442599, 73452061-73452063, 73456956-73456957, 73456962-73456972, 73456975, 73456996-73457036, 73457314-73457320, 73457343-73457360, 73459609-73459613, 73460519, 73461026-73461027, 73461062-73461068, 73462013-73462016, 73462495-73462511, 73466085-73466114, 73466146-73466150, 73466159-73466169, 73466254-73466313, 73467533-73467538, 73467550, 73467565-73467568, 73467591-73467595, 73471980-73472001, 73474706-73474721, 73477677-73477697
780NCF170.9403239556692270117374188398-74188405, 74193665-74193671, 74202424-74202425, 74202428-74202429, 74202937-74202971, 74203002, 74203383-74203394, 74203434, 74203455, 74203466
781POR70.59911894273128819204375608773-75608786, 75608791, 75609773-75609776, 75610383-75610388, 75610462-75610490, 75611542-75611549, 75611632-75611640, 75612859-75612891, 75612936-75612937, 75613056-75613085, 75613150-75613156, 75614095-75614122, 75614125-75614128, 75614132-75614166, 75614191-75614271, 75614376-75614404, 75614432-75614448, 75614470-75614525, 75614897-75614975, 75614987-75615053, 75615097-75615121, 75615132-75615161, 75615241-75615263, 75615282-75615299, 75615321-75615335, 75615369-75615386, 75615483-75615559, 75615674-75615716, 75615742-75615766, 75615794-75615799
782CD3670.9351656095842192141980285970-80285979, 80292399, 80293774-80293793, 80295767-80295768, 80295774, 80295777, 80295780, 80300406-80300440, 80300460, 80300472-80300474, 80301311-80301313, 80301320-80301322, 80301331, 80302086-80302090, 80303347, 80303355, 80303369, 80303373, 80303421
783ABCB470.99843756384087074179-87074183, 87076372
784AKAP970.9892528147391261172491603189-91603194, 91630216-91630261, 91630303-91630304, 91630382-91630410, 91630496, 91630499-91630500, 91631402-91631406, 91631990-91631996, 91667855-91667857, 91690696-91690699, 91691756-91691759, 91706169-91706184, 91706227
785KRIT170.9864314789687930221191852284-91852291, 91866997, 91867000-91867017, 91870350-91870352
786PEX170.999740394600211385292147155
787TFR270.99584372402328102406100238608-100238615, 100238697-100238698
788SLC26A570.99418344519016132235103030905-103030916, 103061294
789RELN70.9899778355979610410377103193929, 103252136-103252137, 103270473, 103270497-103270511, 103270530-103270557, 103275936-103275944, 103290758-103290762, 103322670, 103322674-103322680, 103338423, 103338464-103338475, 103338503-103338520, 103629800-103629803
790SLC26A470.999573196756312343107315510
791DLD70.9980392156862731530107556089-107556091
792IFRD170.9941002949852581356112095864, 112096104-112096110
793MET70.9980829139707684173116339352-116339353, 116339587-116339590, 116339599, 116340242
794CFTR70.98131892865181834443117180203-117180207, 117188733-117188766, 117188794-117188800, 117188847-117188853, 117235008-117235022, 117235040-117235044, 117235055, 117267783-117267791
795AASS70.99029126213592272781121769415-121769418, 121769480-121769485, 121769533-121769549
796IMPDH170.99333333333333121800128038551, 128038555-128038558, 128049833-128049837, 128049954-128049955
797FLNC70.994497432135458178128470717-128470752, 128471010-128471018
798ATP6V0A470.9984145858105442523138394455-138394457, 138447673
799BRAF70.9960886571056192301140507772, 140508794-140508795, 140624404-140624409
800PRSS170.81451612903226138744142458506-142458555, 142459625-142459629, 142459664-142459682, 142459811-142459839, 142460313, 142460335, 142460339, 142460366-142460397
801CLCN170.9979777553083962967143042834-143042839
802CNTNAP270.9954954954955183996146997321-146997330, 147092709-147092710, 147092780, 147092793-147092797
803KCNH270.98074712643678673480150671862-150671907, 150674926, 150674930-150674942, 150674978-150674984
804SHH70.635709143268545061389155595600-155595639, 155595645-155595651, 155595668-155595707, 155595727-155595790, 155595804-155595842, 155595877-155595903, 155595916-155595919, 155595974-155595999, 155596033-155596075, 155596097-155596137, 155596147-155596153, 155596180-155596220, 155596240-155596265, 155596367-155596373, 155599017-155599066, 155599083-155599126
805MNX170.631011608623554451206156798280, 156799254-156799271, 156802364, 156802369, 156802375, 156802523-156802570, 156802624-156802919, 156802966-156803044
806CLN880.94773519163763458611719273-1719283, 1719511-1719518, 1719524-1719529, 1719570, 1728709-1728727
807MCPH180.996012759170651025086266830-6266838, 6299599
808GATA480.9307750188111492132911565836-11565846, 11565880, 11565978-11565990, 11566060-11566064, 11566175-11566204, 11566252-11566283
809TUSC380.9713467048710630104715508213, 15517016-15517026, 15517036-15517053
810SFTPC80.99494949494949359422021400-22021402
811CHRNA280.9924528301886812159027321495-27321506
812ESCO280.9928017718715413180627660943-27660955
813ANK180.996663154197419569441529956-41529967, 41561925-41561927, 41573225-41573226, 41583435-41583436
814THAP180.908099688473525964242693117-42693147, 42693177, 42693478, 42694387-42694389, 42694392-42694393, 42698180-42698199, 42698216
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816RP180.999536393138623647155538529, 55538533-55538534
817CHD780.9974427396041823899461654221, 61654589-61654590, 61655115, 61734374-61734379, 61734626-61734637, 61734693
818EYA180.999437886453061177972128949
819CA280.968071519795662578386376320-86376344
820NBN80.999558498896251226590990504
821DECR180.9900793650793710100891057115-91057124
822TMEM6780.994645247657316298894811876-94811877, 94815906-94815912, 94828600-94828606
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824GRHL280.9984025559105431878102631923-102631925
825RRM2B80.9990530303030311056103237177
826TNFRSF11B80.9933665008291981206119936667, 119936670-119936674, 119936684, 119938736
827KIAA019680.99683908045977113480126095368-126095372, 126095375-126095376, 126095381, 126096042, 126096045-126096046
828KCNQ380.99579992363498112619133492577, 133492765-133492766, 133492769-133492776
829SLURP180.025641025641026304312143822561-143822694, 143823221-143823320, 143823329-143823340, 143823746-143823803
830CYP11B180.9980158730158731512143956378-143956380
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862ASS190.9935431799838681239133327698-133327705
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876AGPAT290.54360812425329382837139568204-139568207, 139568212-139568213, 139568219, 139568222, 139568260-139568293, 139568332-139568379, 139569187-139569231, 139569247-139569259, 139571037-139571038, 139571090-139571117, 139571418-139571425, 139571429-139571432, 139571436, 139571464-139571478, 139571559, 139571573-139571588, 139571892, 139571958, 139581635-139581720, 139581739-139581809
877SLC34A390.2177777777777814081800140126155-140126157, 140126167-140126187, 140126214-140126228, 140126535-140126569, 140126612-140126613, 140127034, 140127045-140127076, 140127107-140127155, 140127236-140127260, 140127274-140127358, 140127368, 140127377-140127379, 140127464-140127493, 140127510-140127552, 140127661-140127669, 140127686-140127696, 140127701-140127711, 140127718, 140127727-140127736, 140127739-140127741, 140127745-140127750, 140127771-140127807, 140127821-140127837, 140127845-140127856, 140128090-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129071, 140129086-140129101, 140129107-140129146, 140129149, 140129155, 140130404-140130617, 140130627-140130671, 140130677-140130692, 140130699, 140130713-140130763, 140130770-140130868
878EHMT190.82422376186816853897140513481-140513501, 140605435-140605477, 140611078-140611476, 140611485-140611634, 140622893, 140622902, 140622963-140622969, 140622972, 140638520-140638523, 140669700-140669704, 140671155, 140671250-140671288, 140672485-140672488, 140708934-140708940, 140708949, 140728937
879SHOXX0.62229806598407332879591633-591716, 591726-591771, 591783, 591786-591787, 591795, 591799-591810, 591814, 591826-591854, 591871-591890, 591898-591909, 595361-595410, 595458, 595472-595483, 595501-595561
880CSF2RAX0.4934865900383166113051401604-1401672, 1404674-1404721, 1404738, 1404774-1404800, 1407500-1407502, 1407690-1407697, 1407759-1407761, 1409231-1409245, 1409252, 1409322, 1409326-1409341, 1409365-1409402, 1413221-1413234, 1413244-1413253, 1413266-1413354, 1414320-1414349, 1419384-1419485, 1419492-1419519, 1422154-1422247, 1422816-1422846, 1422894-1422901, 1422905, 1424388-1424411
881NLGN4XX0.9983680130559424516069149-6069152
882MID1X0.999500998003991200410463682
883OFD1X0.99934188877922303913756967-13756968
884FANCBX0.9930232558139518258014883301-14883306, 14883325-14883327, 14883342, 14883468-14883475
885PHKA2X0.9943365695792921370818912432-18912445, 18915300, 18926921-18926926
886RPS6KA3X0.999550157444891222320212309
887SMSX0.998183469573122110121958953-21958954
888PHEXX0.9969225022112173-22112177, 22239826-22239829
889ARXX0.9763173475429240168925031651-25031673, 25031893-25031908, 25031913
890GKX0.9915764139590914166230683669-30683671, 30714238, 30714241, 30718955-30718963
891DMDX0.99846265147405171105832563413-32563429
892CYBBX0.997664915353184171337655358-37655361
893RPGRX0.513443191673891683345938144793-38144836, 38144851-38144852, 38144856-38144862, 38144873-38144896, 38144910, 38144917-38144926, 38144940-38146098, 38146106-38146162, 38146169-38146197, 38146204-38146250, 38146256-38146282, 38146301, 38146342-38146378, 38146383-38146473, 38146494-38146498, 38147114-38147134, 38147156-38147168, 38147190-38147193, 38147218-38147250, 38147280-38147288, 38147291-38147294, 38150212-38150257, 38150646, 38150659-38150660, 38156544, 38156605-38156608, 38156669, 38156676-38156678
894OTCX0.999061032863851106538226646
895TSPAN7X0.986666666666671075038420810, 38420813-38420818, 38546871-38546872, 38546881
896BCORX0.9941154138192931526839922017-39922019, 39922173-39922175, 39922184, 39931894-39931912, 39933266-39933270
897ATP6AP2X0.9971509971513105340460030-40460031, 40464961
898NYXX0.9764868603042934144641332958, 41333543-41333547, 41333556, 41333937-41333962, 41333965
899MAOAX0.9696969696969748158443571195-43571196, 43571985-43572027, 43572041-43572043
900ZNF674X0.999427262313861174646360606
901RP2X0.999050332383671105346713017
902PORCNX0.994227994227998138648370289-48370296
903EBPX0.99278499278499569348386643-48386647
904WASX0.999337309476471150948549540
905CACNA1FX0.9976407145264614593449062077, 49065768, 49067110-49067120, 49067456
906FOXP3X0.996913580246914129649111970, 49114780-49114782
907FGD1X0.99584199584212288654494251-54494262
908ARX0.9782844733984860276366765159-66765218
909MED12X0.999081726354456653470357432-70357434, 70361098-70361100
910TAF1X0.9919042590637146568270586193-70586224, 70586295-70586298, 70586328-70586336, 70643885
911PHKA1X0.9953703703703717367271831021, 71831024, 71915580, 71915629-71915641, 71915709
912SLC16A2X0.9831704668838231184273641385-73641415
913ABCB7X0.99734748010616226274291513-74291518
914ATRXX0.9985292151357111747976937124-76937134
915ATP7AX0.9877859204974555450377244986, 77254046-77254055, 77258625, 77258693, 77286979-77286985, 77287033, 77287040, 77289231-77289236, 77289316, 77298232-77298236, 77298828, 77298831-77298850
916BRWD3X0.9942688112405331540979973178, 79975022-79975028, 79975081, 79978215-79978224, 79984319-79984323, 79984328, 79984379, 79985416, 79985422-79985424, 79985428
917ZNF711X0.999562554680661228684526833
918CHMX0.9877675840978624196285128074, 85128131, 85128143-85128152, 85128160, 85128209-85128217, 85211305, 85218674
919COL4A5X0.998813760379665058107863593-107863598
920ACSL4X0.99297752808989152136108906456-108906461, 108906548-108906556
921CUL4BX0.946389496717721472742119664061, 119672004, 119672007, 119672515-119672519, 119672550, 119673123-119673150, 119675522-119675524, 119691808-119691812, 119691820, 119694063, 119694072-119694076, 119694098-119694140, 119694286, 119694329-119694372, 119694455-119694461
922XIAPX0.93975903614458901494123019523-123019537, 123019564-123019570, 123019652, 123019729-123019761, 123019788, 123019812, 123019869-123019872, 123025105-123025132
923GPC3X0.9982788296041331743132887820, 133119428, 133119433
924ZIC3X0.95655270655271611404136648985-136648987, 136651105-136651154, 136651177, 136651192, 136651219-136651224
925FAM58AX0.995918367346943735152864476-152864478
926SLC6A8X0.871069182389942461908152954030-152954247, 152956926, 152956934, 152959470-152959472, 152959595-152959601, 152959643, 152959847, 152960061-152960074
927ABCD1X0.867739052725652962238152990746, 152990852-152990897, 152990914-152990935, 152990984, 152990998-152991003, 152991050, 152991056-152991065, 152991083-152991087, 152991093-152991100, 152991115, 152991162, 152991236-152991267, 152991320, 152991400-152991410, 152991428-152991454, 152991500-152991539, 152991606-152991618, 153001566-153001568, 153001689-153001690, 153001693-153001699, 153001799-153001812, 153001938, 153002639-153002642, 153002691, 153006081, 153008473-153008486, 153008675-153008678, 153008943-153008947, 153008981-153008987, 153009028-153009030, 153009122, 153009135, 153009177-153009178
928L1CAMX0.98304186539481643774153130603, 153132106, 153133318-153133330, 153133551, 153134050-153134054, 153134984, 153135275-153135276, 153135526-153135532, 153135560-153135580, 153136277-153136281, 153136512-153136517, 153137615
929MECP2X0.94522378089512821497153297664-153297668, 153297837-153297852, 153297863-153297890, 153363061-153363069, 153363072-153363073, 153363084, 153363092-153363111, 153363122
930OPN1LWX0.9662100456621371095153418456, 153418460, 153418468, 153418520-153418551, 153421784, 153421787
931OPN1MWX0.9689497716895341095153453337-153453343, 153455595-153455601, 153455650-153455668, 153458914
932OPN1MWX0.95981735159817441095153490455-153490461, 153492713-153492719, 153492768-153492786, 153494385-153494392, 153496031-153496032, 153496035
933FLNAX0.881545820745229417944153577759-153577788, 153577827-153577837, 153577884-153577886, 153578524, 153580037-153580047, 153580306, 153580317-153580323, 153580795-153580814, 153581251-153581257, 153581378, 153581381-153581383, 153581467-153581474, 153581552-153581572, 153581691-153581695, 153581965-153581980, 153583067-153583078, 153583289-153583295, 153583339-153583346, 153583404-153583408, 153585635-153585640, 153585802-153585823, 153586578-153586579, 153586619-153586622, 153586639, 153586706-153586712, 153586835-153586854, 153587421, 153587434, 153587488-153587499, 153587622-153587660, 153587669-153587701, 153587852-153587864, 153587881-153587914, 153587986-153587992, 153588108-153588131, 153588163-153588190, 153588358-153588395, 153588405-153588423, 153588452, 153588455-153588461, 153588468, 153588490, 153588523, 153588651-153588652, 153588656, 153588673, 153588683-153588688, 153588743, 153588886-153588916, 153589682, 153589748-153589779, 153589783-153589785, 153589818-153589823, 153589827, 153590149-153590155, 153590359, 153590373, 153590376, 153590384-153590399, 153590642, 153590659, 153590666, 153590799-153590802, 153590904-153590925, 153590940, 153590944-153590945, 153591029-153591061, 153592440-153592449, 153592991, 153593243-153593246, 153593575-153593576, 153593780-153593781, 153593785-153593793, 153594413, 153594417, 153594440-153594447, 153594688-153594713, 153594819-153594836, 153594930-153594956, 153595113-153595125, 153595180, 153595765-153595782, 153595900, 153596343-153596365, 153596369, 153596451-153596458, 153599254, 153599292-153599299, 153599379-153599392, 153599396, 153599423-153599424, 153599433-153599460, 153599498-153599504, 153599546, 153599553-153599564, 153599567, 153599597-153599613
934EMDX0.879738562091592765153608062-153608085, 153608139-153608154, 153608318, 153608595-153608603, 153608628, 153609116-153609137, 153609141, 153609145, 153609274-153609276, 153609292, 153609372-153609383, 153609510
935TAZX0.85551330798479114789153640181-153640200, 153640229-153640235, 153640258-153640289, 153640425-153640437, 153640442-153640451, 153640512-153640527, 153640546-153640551, 153641546, 153641854-153641862
936GDI1X0.9940476190476281344153666875-153666882
937G6PDX0.884004884004881901638153760268-153760272, 153760284-153760305, 153760416-153760441, 153760462-153760495, 153760617, 153760624-153760626, 153760630, 153760867-153760868, 153760916, 153760938, 153761286-153761287, 153761847-153761848, 153761851-153761856, 153762250-153762255, 153762571-153762576, 153762614-153762627, 153762678, 153762691, 153762698-153762700, 153762703-153762704, 153763516, 153763526, 153763597, 153764387, 153774286, 153775039-153775084
938IKBKGX0.94603825136612791464153784380-153784381, 153784488-153784532, 153791106-153791122, 153792573-153792587
939IKBKGX0.9345603271983632489153868340-153868354, 153869805-153869821
940F8X0.9997165532879827056154158463, 154158950
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhomozygous0.096Unknown
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
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2ABCC11-H1344Rhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ABCC11-N1277Yhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
2ABCC11-G180Rhomozygous0.098Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
2TNFRSF13B-C104Rhet unknown0.004Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
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-H1923Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
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
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.125RYR2-G1886Shet unknown0.061Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125RYR2-Q2958Rhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-S18Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
1TM7SF2-A119Vhomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TM7SF2-T299Ihomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1NPHS1-R408Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1HSH2D-E33Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPRSS3-A90Thomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-E476Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1SLC38A10-E676Dhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
1SLC38A10-EAEGLMK416RAEGLMQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLC38A10-EAEGLMK416RAEGLMQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-P643Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-W38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK298931-T4ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALDH7A1-K439Qhomozygous0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
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
1IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FARP1-H644Yhomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1COL11A2-P894Lhomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CASR-R990Ghet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
1CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-C4021Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), 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
1GJB2-G12Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R456Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C17orf103-C16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-YK352CQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-E496Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-H498Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1HRNR-P2099Shomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
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-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IRF6-V274Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MST1P9-H282RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MST1P9-A271ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MST1P9-Q40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CDKN2A-P11PAAGSSMEPhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LAMC2-D247Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1OR2T11-M203Rhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1OR2T11-C119Rhomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1AGL-G1115Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AMPD1-K287Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PDE7A-G50Ehomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75COL9A2-V581Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.75COL9A2-G415Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CRIM1-E502Khet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), 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
0.5ALDH3A2-Q10Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5SULT1C4-D5Ehomozygous0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRA2B-G211Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-D5573Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-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
0.5SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-A190Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhomozygous0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-H65Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALPK3-P1299Lhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-R1412Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5WHAMM-N212Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5HEXA-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
0.5CHRNA3-R37Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5MAP2K3-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)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-P268Shomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NOD2-L1007Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAPD5-Q461Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SOST-V10Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5KCNJ12-E56Ahet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-L211Fhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF331-C85Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FBN3-E2610Dhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-P1958Hhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-L1904Fhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-N1869Khet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-V1326Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-S1293Ghet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R1083Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-V938Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-P329Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFR2-I718Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.943 (probably damaging)
0.5ZFR2-R521Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZFR2-E474Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR2E3-E140Ghet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZSWIM4-M616Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5ZSWIM4-T629Mhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5ZSWIM4-N710Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A1020Phet unknown0.112Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-S497Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5H6PD-D151Ahet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM98C-C227Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5THAP8-K112Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THAP8-R70Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GRAMD1A-R448Whet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5EMP3-I125Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5ZNF114-R244Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L59Phet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP3K14-S140Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HIGD1B-D87Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCL14-S25Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-S524Ghomozygous0.916Unknown
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
0.5TCEB3B-P598Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TCEB3B-C533Fhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TCEB3B-G505Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5TCEB3B-A446Thet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5TCEB3B-A403Shomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-D302Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCEB3B-C254Fhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-R179Phomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-T6Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5NLRP12-F402Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCA8-C1244Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCA9-K1306Thet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13D-K867Ehomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NID2-G760Vhomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-S656Phet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P529Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging)
0.5NID2-G453Dhomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P22Qhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_032802-N126Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CTNNA3-R535Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.525 (possibly damaging)
0.5SLC29A3-R18Ghomozygous0.488Unknown
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
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5PCDH15-N642Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5LEFTY2-P286Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MASTL-V873Ihet unknown0.004Unknown
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-E2968Qhet unknown0.018Unknown
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-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-M703Vhomozygous0.715Unknown
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
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-P1492Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-G2730Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS5-T1098Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-R599Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR5L-A41Thet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ARMS2-R38*homozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PAOX-V285Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRVI1-P186Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRVI1-A70Thomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRVI1-I11Vhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSPAN32-M91Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB7-V324Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5GBP1-T349Shet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP1-S213Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NEGR1-Y347Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLOD1-A99Thomozygous0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5PRAMEF2-E308Ghet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPOCD1-P1089Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5GRHL3-T454Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
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
0.5ASPM-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
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5CR1L-R116Ghet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-R128Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5CR1L-N402Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5CFHR1-H157Yhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1352Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
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)
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-S326Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.689 (possibly damaging)
0.5KIAA1614-L801Fhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAZ2B-D1805Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BAZ2B-P530Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SYNE2-R1393Whet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5HEATR5A-L1482Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEATR5A-R1325*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HEATR5A-V593Mhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR5A-R589Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CMA1-H66Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.963 (probably damaging)
0.5CLYBL-I241Vhomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CLYBL-R259*het unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5HEATR4-R191Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
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
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TJP1-R1083Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-P52Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5WDFY2-R356Chet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLECL1-S52Shifthet unknown0.008Unknown
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)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
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-T789Ahet unknown0.431Unknown
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
0.5WNK1-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
0.5CPT1A-A275Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
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
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROBO3-R416Hhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ROBO3-A1062Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ROBO3-RS1367Delhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VWA5A-R757Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5MLL2-QQ4217PNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-L3906Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-QQ3737KRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SACS-A694Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HELB-L191Phomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELB-D506Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HELB-E522Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RASAL1-R321Hhet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5VEZT-V496Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
0.5VEZT-G762Dhomozygous0.779Unknown
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-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), 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-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
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-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-W37Ghomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-Y59Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-M174Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P294Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNXB-R48Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L168Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5ZFP57-R187Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF354C-Y524Chet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF354C-F546Lhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF354C-E553Khomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-Y205Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH5A1-A237Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRS2-P412Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5TNXB-P2947Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G1140Dhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghet unknown0.774Unknown
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-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5RSPH4A-R556Hhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
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
0.5PARK2-V380Lhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
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
0.5MYO6-T845Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
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-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPEF2-N71Hhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPEF2-R421Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPEF2-K867Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPEF2-A904Vhet unknown0.762Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPEF2-A934Phet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LIFR-V785Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.033 (benign), Testable gene in GeneTests
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENAM-S1107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKD2-R28Phet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PKD2-A552Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH7-R132Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5AP3B1-I1072Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-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
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5PCDHB6-V446Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB6-E621Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCDHB6-H636Qhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.393 (possibly damaging)
0.5PCDHB6-G776Dhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LECT2-G63Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
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
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-H752Qhomozygous0.994Unknown
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-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-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
0.5TTF1-R401Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK300656-R11*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PLEC-H1459Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), 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
0.5TJP2-D482Ehomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5JAK2-R1063Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK8-D130Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK8-I5Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-K177Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-Q180*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CELP-L184Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNA1F-R1930Hhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
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
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
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
0.5NR_027444-W159Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF41-I125Rhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-G267Ahet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-L265Mhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-G234Shet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-R175Ghet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
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
0.5JRK-L543Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WISP1-A205Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-V1790Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYOM2-V321Lhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOM2-V363Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MATN2-T187Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.899 (probably damaging)
0.5MATN2-K356Ehomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-A599Thet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.747 (possibly damaging)
0.5MATN2-T855Mhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NCRNA00255-K68Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
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
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SLC30A8-R325Whomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHX2-R52Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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
0.5MCPH1-T682Nhomozygous0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R752Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhomozygous0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-R1767Qhet unknown0.420Unknown
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-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-V3999Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P49Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5ISX-P57Shomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RETNLB-P20Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCB11-M677Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TUBB1-R307Hhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-T3069Ihomozygous0.362Unknown
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
0.5SLC17A9-N228Shomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC17A9-T397Mhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIB3-Q84Rhomozygous0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-S18Ghomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5ANO10-R462Qhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PCNT-H237Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.088 (benign), Testable gene in GeneTests
0.5PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-I1639Vhomozygous0.318Unknown
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-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), 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-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TTN-V32278Lhet 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-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R15400Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K7081Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLG1-P921Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PANK2-L111Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5DFNB59-R265Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests
0.5KIAA1407-H84Nhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LBP-D283Ghet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABHD14A-R32Qhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5DCLK3-E633Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH7-R545Chet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP10-Y446Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TTBK2-L981Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.375IL12RB1-S74Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO7A-KR615QWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.375KRT6B-G97Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIAA1279-G66Shet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25KIAA1279-M173Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-C4Yhet unknown0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4F11-C276Rhet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4F11-D142Shifthet 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
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C21orf56-E231Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C21orf56-VF211GVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C21orf56-F201*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
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
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-R66Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25DNHD1-V240Ehet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-D622Ahet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-N694Shet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-Q697Rhet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-G769Rhet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-L846Mhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-D987Ghomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-R1808Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNHD1-L1912LHALLhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNHD1-M2015Thet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNHD1-R2928*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DNHD1-D3313Nhet unknown0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC111383-M48Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BC111383-R60Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WDR34-S76*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WDR34-W60Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), 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
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25RBMXL1-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBMXL1-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-D233Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAAT-R201Phet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-A481Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), 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-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
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
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C1orf26-K516*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C1orf26-N821DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF3C-Q370Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIF3C-N333Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A2961Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (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
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLD1-A622Shet unknown0.179Unknown
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
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MRC2-V43Ihet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MRC2-IS1255NRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MRC2-Y1257*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MRC2-L1265Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25RPAP1-E506Khet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GLTPD2-D144Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLTPD2-D144Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLTPD2-V152AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-V152AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-P174Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-P174Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-D209EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLTPD2-D209EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.25EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM129-S38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM129-QN34HHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25KRT10-G550GGGGGGYGGGSSGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25SDHA-V657Ihet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), 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
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
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
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BC037579-L308Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P306Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BC037579-P305Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.25HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-M230Vhet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CELA1-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
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIRT6-S46Nhomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRT6-E28Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D89Vhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMAN1-V39Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THEMIS-I630Vhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THEMIS-R330Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN23-A944Thet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTPN23-L1548Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SGSH-R456Hhet unknown0.293Unknown
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
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFV2-V29Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NDUFV2-NPD48Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPCR1-T581Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DPCR1-T1282Mhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DPCR1-R1393Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HTR2A-H452Yhet unknown0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0SIAE-M89Vhet unknown0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0TAF1-D1852Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PRPH-D141Yhet unknown0.004Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.086 (benign)
0PAX6-H376Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0COMP-L35Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,676,974,530 bases (94.5% of callable positions, 88.6% of total positions)

Coding region coverage: 31,495,032 bases (94.8% of all genes, 95.9% 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

Gene search

"GENE" or "GENE A123C":

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