hu826751 - GET-Evidence variant report

Variant report for hu826751

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
2OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Homozygous
0.08867821
4FCN3-L117ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0234375Speculated to cause immunodeficiency in a patient with serious, repeated infections. A large set of patients was examined (1282) and this variant is not extremely rare (1.1% allele frequency), and so this single observation had no statistical significance. Additionally, if this phenotype is relatively rare (1% or less), then a strong disease effect in homozygotes should have resulted in many more homozygotes in the patient cohort. The lack of this observation casts significant doubt on any pathogenic hypothesis.1
5FCGR2B-I232TLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.132664A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear.1
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
7FANCG-R513QLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00715746Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.1
8TGIF1-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
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
11ELAC2-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
12ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 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
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15H6PD-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
16SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
17DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
18CFH-V62ILowLikelyLikely protective

Complex/Other, Homozygous
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
19NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
20TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
21LPL-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
22IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
23NEFL-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
24MYBPC3-T957SLowLikelyLikely benign

Unknown, Heterozygous
Ehlermann et al. 2008 reported seeing this in one hypertrophic cardiomyopathy case in a screen of 158 patients, and not in 430 controls (they reported it as novel). Similarly, Rodríguez-García et al. 2010 saw it once in 130 cases and not in 200 controls. However, ExAC data reports an allele frequency of 0.15% in Europeans – 1 in 330 carriers. Both reported findings are consistent with ExAC data (and not significantly different from it). If this variant played any causal role (even one with reduced, but notable penetrance), it would have been seen much more frequently in patients; as no such enrichment was found, the pathogenic hypothesis is strongly disproven.1
25OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
26CEP290-D664GLowLikelyLikely benign

Unknown, Heterozygous
0.00878754Reported as a non-pathogenic polymorphism, appears to be more common in East Asians.1
27MLH1-I219VLowUncertainUncertain benign

Dominant, Homozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
28GJB2-V27ILowUncertainUncertain benign

Unknown, Heterozygous
0.00269567Probable non-pathogenic; other variants in gene associated with hearing loss. A few controversial mutations of uncertain or evolving clinical significance are included in this prototype. Examples include V27I, M34T, V37I, and E114G in the GJB2 gene and IVS2-2AG in the SLC26A5 gene. This variant is also observed both in Case and Control in the study of hearing loss.1
29FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
30DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
31BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
34RP1-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
35PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
36PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31300833 / 33282720 = 94.05%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3579341805148339416138955553-955753, 957599-957647, 957665-957732, 957759-957842, 970672-970704, 976045-976132, 976139-976147, 976168-976260, 976553-976563, 976570-976777, 976869-976921, 976946-976993, 977018-977027, 977047-977065, 977077-977082, 977336-977337, 977340, 977384, 977391, 977416-977439, 977447-977516, 978619-978646, 978681-978750, 978756-978800, 978918-978928, 978935-978971, 978995-979020, 979024-979074, 979111-979112, 979203-979213, 979224-979253, 979298-979343, 979358-979403, 979502-979557, 979562-979578, 979603-979609, 979629-979631, 979811-979819, 980541-980550, 980589-980606, 980751-980785, 980855, 980870-980878, 980887, 981157-981194, 981205-981244, 981356-981358, 981368, 981401, 981435-981437, 981440-981456, 981572-981583, 981622-981629, 981777-981809, 981823-981844, 981847, 981870, 981891, 981916-981999, 982018-982037, 982040-982046, 982049, 982060-982066, 982078-982114, 982205-982211, 982222, 982225-982227, 982247-982331, 982716-982754, 982804-982819, 982827-982829, 982984-983014, 983039-983067, 983174-983256, 983271-983275, 983392-983450, 983462-983515, 983538-983562, 983571-983745, 984247-984439, 984623-984774, 984780-984817, 984946-984960, 984988-985009, 985040-985041, 985044-985067, 985069-985071, 985075-985081, 985093-985099, 985102-985109, 985111, 985120-985121, 985138, 985151-985175, 985298-985410, 985613-985645, 985700-985709, 985840-985863, 985873-985891, 985909-985929, 985953-985971, 986106-986124, 986134-986137, 986141-986144, 986162-986205, 986645-986648, 986651-986656, 986671-986749, 986833-986921, 986931-986936, 986942-987025, 987108-987129, 987150-987155, 987170-987195, 989177-989195, 989203-989259, 989306, 989343-989357, 989830, 989833-989835, 989871-989877, 989892, 989898-989899, 989902-989905, 990204-990210, 990223-990264, 990280, 990294-990317, 990326-990350
2GABRD10.3119941133186293513591950863-1950930, 1956381-1956390, 1956414-1956486, 1956773-1956802, 1956957-1956997, 1957016-1957029, 1957055-1957078, 1957118-1957120, 1957124-1957176, 1959016-1959026, 1959029-1959030, 1959083-1959091, 1959600-1959607, 1959615-1959631, 1959664, 1959669-1959708, 1960550-1960574, 1960585-1960659, 1960676, 1960683-1960705, 1960992-1961059, 1961099-1961146, 1961167-1961201, 1961422-1961424, 1961429-1961563, 1961573, 1961589-1961634, 1961651-1961721
3PEX1010.810397553516821869812337923-2337960, 2337985-2337992, 2339997-2339999, 2340007-2340017, 2340031-2340032, 2340158, 2340176-2340190, 2340196-2340206, 2340272-2340277, 2343833-2343869, 2343888-2343941
4NPHP410.9416024293389425042815925212-5925224, 5934652-5934662, 5934673-5934674, 5935068-5935069, 5947385-5947386, 5947417-5947437, 5947509-5947511, 5947521-5947525, 5950950-5950956, 6012773, 6027399, 6027402-6027403, 6029160-6029164, 6029316, 6038330-6038473, 6046246, 6046287, 6046322-6046349
5ESPN10.59376218323587104225656485016-6485309, 6488304, 6488322, 6488325, 6488333, 6488377-6488393, 6488426-6488432, 6488466-6488467, 6500352-6500393, 6500403-6500442, 6500449-6500489, 6500709-6500725, 6500737-6500803, 6500829-6500868, 6500994-6501037, 6501047-6501070, 6501100-6501112, 6504588-6504594, 6505735, 6505776-6505798, 6505838-6505920, 6508712, 6508727-6508731, 6508743, 6508745-6508747, 6508759, 6508769-6508770, 6508782, 6508831, 6508853-6508854, 6508872-6508873, 6508885, 6508922-6508928, 6508951-6508992, 6509033-6509060, 6509072-6509086, 6509100-6509128, 6511677-6511709, 6511754, 6511907-6511942, 6511996-6511997, 6512001, 6512021-6512048, 6512096, 6512127-6512156, 6517289, 6520136, 6520198
6PLEKHG510.8149890247726659031896527632, 6527885-6527890, 6527968-6527969, 6527974-6527977, 6527984-6527986, 6528042-6528057, 6528068, 6528088-6528122, 6528173, 6528176-6528183, 6528258-6528259, 6528270, 6528313-6528315, 6528327, 6528526-6528556, 6529168-6529222, 6529250-6529268, 6529276-6529278, 6529291, 6529475-6529480, 6529635, 6529711, 6529726, 6530341-6530342, 6530630-6530667, 6530689, 6530697, 6530823-6530865, 6530883, 6530910, 6530924-6530944, 6531050-6531061, 6531081-6531100, 6531148-6531149, 6531571-6531609, 6531681-6531697, 6531849-6531852, 6532631-6532633, 6532659-6532665, 6533118, 6533393, 6533409-6533414, 6533421, 6533425-6533428, 6534112-6534119, 6534525, 6534531-6534537, 6534545, 6534577, 6534622, 6534625-6534637, 6535126-6535149, 6535167-6535198, 6535532-6535534, 6535537, 6535546-6535558, 6535581-6535582, 6536011-6536013, 6556575-6556623, 6557380-6557383
7PEX1410.84920634920635171113410535031-10535033, 10659341, 10684420, 10684423, 10684426-10684427, 10684430-10684470, 10689642, 10689675-10689750, 10689792, 10689875-10689885, 10689891, 10689998-10690027, 10690043-10690044
8TARDBP10.9622489959839447124511080598, 11082229, 11082261, 11082322-11082362, 11082530, 11082585, 11082594
9MASP210.70305676855895612206111087240-11087246, 11094885, 11094939, 11097771, 11097798, 11097803-11097806, 11097829-11097859, 11102952-11103017, 11103044, 11103059-11103079, 11103410-11103417, 11103437-11103457, 11103492-11103517, 11103536-11103571, 11103577-11103586, 11103589, 11105465-11105561, 11105578-11105583, 11105590, 11106613-11106687, 11106761-11106790, 11106948-11107022, 11107052-11107071, 11107082-11107101, 11107114-11107154, 11107169-11107174, 11107260-11107264
10MTHFR10.9837645865043132197111853998, 11854103-11854109, 11854844-11854859, 11855369-11855375, 11862970
11PLOD110.9935897435897414218412023637, 12023642-12023643, 12026318-12026323, 12026349-12026351, 12030754, 12030758
12CLCNKA10.76356589147287488206416349179, 16351258-16351278, 16353849, 16353891-16353919, 16354321-16354339, 16354391-16354397, 16355621-16355637, 16355738, 16356270, 16356460-16356472, 16356497, 16356522-16356527, 16356530-16356533, 16356547-16356548, 16356551, 16356556-16356566, 16356956-16357009, 16357020-16357039, 16357063, 16357067-16357068, 16357091-16357142, 16357156-16357169, 16358206, 16358211, 16358216, 16358219-16358245, 16358267-16358288, 16358698-16358710, 16358726-16358730, 16358735-16358742, 16358751-16358778, 16358938-16358958, 16358970, 16359016, 16359691-16359740, 16360106-16360116, 16360134-16360153
13CLCNKB10.8187984496124374206416371060-16371063, 16371067, 16372180, 16373044-16373050, 16373124, 16375040-16375064, 16376191, 16377072, 16377077, 16377404, 16377461, 16377474, 16377477-16377491, 16377975-16377977, 16377979-16377980, 16377984-16377985, 16378215, 16378285-16378288, 16378296, 16378693-16378759, 16378773-16378815, 16378838-16378906, 16380155-16380199, 16380220-16380230, 16381946-16381954, 16381958-16381967, 16381982-16381993, 16382170-16382176, 16382214-16382231, 16382250, 16382962, 16383364-16383371
14ATP13A210.9788314987298975354317313038-17313057, 17313588-17313622, 17314942, 17318807, 17322617-17322620, 17323646-17323659
15ALDH4A110.9852245862884225169219201964-19201970, 19201980-19201983, 19204031-19204044
16PINK110.93928980526919106174620960057-20960082, 20960089-20960097, 20960102-20960108, 20960185-20960189, 20960199, 20960258-20960277, 20960315, 20960319, 20960324, 20960329, 20960334-20960344, 20960413-20960428, 20975632-20975638
17ALPL10.9873015873015920157521900164-21900170, 21900212-21900217, 21903948-21903954
18HSPG210.981936854887672381317622149945, 22149961, 22150824, 22151042, 22151253-22151256, 22154607-22154610, 22154630-22154645, 22155328-22155339, 22155506-22155511, 22155520, 22155524, 22156097, 22156572, 22156574-22156577, 22165444, 22165454-22165456, 22168046, 22168116-22168131, 22168830, 22172630-22172632, 22174280-22174287, 22174299, 22174522-22174526, 22175150-22175153, 22175468-22175469, 22176880, 22176949-22176955, 22178581-22178595, 22181207, 22186141-22186144, 22186169, 22186422-22186428, 22186713-22186719, 22188250-22188252, 22199144, 22199503-22199529, 22207001, 22211100, 22263648-22263710
19WNT410.9261363636363678105622456195, 22469339-22469415
20RPL1110.979515828677841153724019165-24019171, 24019226, 24019240, 24019244, 24019247
21HMGCL10.988752556237221197824151846-24151854, 24151889-24151890
22FUCA110.85795860099929199140124180867-24180873, 24186384, 24194388-24194408, 24194488-24194502, 24194519-24194541, 24194574-24194580, 24194587, 24194618-24194630, 24194645, 24194652, 24194660-24194694, 24194697-24194704, 24194711-24194776
23LDLRAP110.968716289104642992725870208-25870214, 25870254, 25870257-25870275, 25889632, 25893439
24SEPN110.88609112709832190166826126722-26126904, 26127543-26127544, 26135634, 26136179-26136181, 26136196
25COL9A210.999033816425122207040782857-40782858
26KCNQ410.90469348659004199208841249766-41249776, 41249794-41249797, 41249807-41249808, 41249811-41249816, 41249849-41249866, 41249872-41249896, 41249909-41249965, 41250038-41250057, 41284254-41284308, 41304028
27LEPRE110.9941203075531413221143212431, 43232250-43232254, 43232609-43232615
28EIF2B310.998528329654162135945345663-45345664
29MMACHC10.957597173144883684945974827-45974862
30ORC110.998839907192583258652839047, 52841194-52841195
31DHCR2410.994197292069639155155352596, 55352599-55352602, 55352659-55352662
32PCSK910.9682539682539766207955505557-55505559, 55518358-55518364, 55521666-55521684, 55521693, 55521696, 55521736, 55521829-55521852, 55524237, 55524242, 55524258-55524265
33COL11A110.99358621953454355457103364231-103364249, 103364272-103364287
34GSTM110.48097412480974341657110230496-110230531, 110230792-110230804, 110230839, 110230854, 110230867, 110231296, 110231302-110231303, 110231306-110231318, 110231321-110231323, 110231677, 110231688-110231693, 110231696-110231697, 110231707-110231714, 110231721-110231724, 110231727, 110231743-110231751, 110231867-110231947, 110232897-110232988, 110233076-110233141
35VANGL110.9987301587301621575116227966, 116228018
36NOTCH210.99163969795038627416120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548098, 120572547, 120572572, 120572609-120572610, 120611956-120611967, 120612006
37FLG10.9192516001969598412186152276149, 152276441-152276447, 152276523-152276543, 152276555-152276560, 152276583, 152276598, 152276626, 152276668-152276702, 152276757-152276785, 152276842-152276892, 152277011-152277058, 152277072-152277088, 152277163-152277182, 152277254-152277260, 152277342-152277374, 152277396, 152277430, 152277437, 152277521-152277532, 152277713-152277722, 152277881-152277887, 152278044-152278052, 152278555, 152278689, 152278853-152278859, 152279182-152279215, 152279524-152279530, 152279615, 152279757-152279784, 152279799-152279805, 152279848, 152280019-152280035, 152280151, 152280154, 152280170-152280178, 152280347, 152280468-152280474, 152280594-152280630, 152280736, 152280759, 152280782, 152280788, 152280864, 152280900, 152281004-152281042, 152281287-152281328, 152281575, 152281798-152281824, 152281853-152281878, 152281938, 152281947-152281948, 152281981-152282006, 152282114-152282135, 152282199-152282244, 152282295-152282307, 152282574-152282580, 152283266-152283275, 152283430, 152283654-152283660, 152283736-152283742, 152283970-152284013, 152284057-152284067, 152284149-152284181, 152284190-152284217, 152284237, 152284277, 152284377, 152284424, 152284626-152284658, 152284854, 152285017-152285039, 152285396-152285407, 152285556-152285580, 152285601-152285607, 152286885
38CHRNB210.98475811795891231509154544185-154544190, 154544471-154544487
39GBA10.9991645781119511197155184416
40PKLR10.99304347826087121725155269989-155269999, 155270043
41LMNA10.9964912280701871995156108361-156108367
42SEMA4A10.9986876640419932286156131157-156131159
43NTRK110.99247176913425182391156830727-156830737, 156830787, 156843467-156843472
44F510.99580524344569286675169510233, 169510325-169510344, 169510486-169510492
45DARS210.9989680082559321938173794494, 173807394
46CFH10.9883658008658433696196716353-196716395
47CFHR110.997985901309162993196801042, 196801078
48CFHR510.9964912280701861710196967298, 196967338-196967340, 196967350, 196973837
49ASPM10.99990415947863110434197070425
50PKP110.99312242090784152181201282445-201282452, 201294219-201294225
51USH2A10.99967967198411515609216496845-216496849
52ADCK310.89403292181072061944227152787-227152794, 227152883-227152904, 227153041, 227153105-227153111, 227153372-227153431, 227169765-227169809, 227169835, 227170698-227170704, 227171296, 227171304-227171316, 227171492-227171494, 227171510, 227171800-227171805, 227171873-227171874, 227171916-227171934, 227172611, 227172955-227172962, 227174210
53GJC210.323484848484858931320228345460-228345461, 228345497-228345509, 228345569-228345611, 228345635-228345668, 228345679-228345688, 228345742-228345776, 228345788-228345835, 228345843-228345902, 228345909-228345971, 228345989-228345999, 228346005-228346131, 228346148-228346154, 228346169-228346204, 228346211-228346239, 228346250-228346332, 228346343-228346404, 228346417-228346463, 228346475, 228346485-228346493, 228346499-228346523, 228346529-228346572, 228346589-228346606, 228346662-228346684, 228346709-228346771
54LYST10.99991232684552111406235944246
55RYR210.99979871175523314904237729979, 237821321-237821322
56NET1100.988274706867672117915454705-5454725
57DCLRE1C100.9894179894179922207914981847-14981868
58PTF1A100.80648429584619198723481510-23481531, 23481553, 23481658-23481660, 23481664, 23481689, 23481697, 23481718-23481767, 23481773, 23481803-23481804, 23481808, 23481831-23481857, 23481869-23481880, 23481883, 23481886, 23481895, 23481898-23481918, 23481937-23481962, 23482015, 23482048-23482050, 23482104, 23482109, 23482116, 23482135, 23482163-23482173
59RET100.9772795216741476334543572707-43572779, 43600609, 43606856, 43615095
60CHAT100.9853137516688933224750822298-50822312, 50822361-50822377, 50822380
61EGR2100.99790356394133143164573471-64573473
62NODAL100.9865900383141814104472201358, 72201386-72201398
63SLC29A3100.999299719887961142873082615
64CDH23100.984188544152741591005673439240-73439244, 73442228-73442233, 73442323-73442329, 73447409-73447415, 73447460-73447473, 73461789-73461799, 73462334, 73464748-73464799, 73468956, 73490286-73490295, 73537495-73537499, 73537505-73537506, 73550073-73550075, 73571155-73571168, 73573001-73573004, 73574847-73574863
65LDB3100.94368131868132123218488441529, 88466311-88466312, 88466357, 88466365, 88466415, 88466420-88466425, 88469675, 88469792-88469798, 88476098, 88476102, 88476153, 88476156-88476180, 88476229-88476230, 88476233-88476234, 88476283-88476284, 88476317-88476342, 88476393, 88476447-88476474, 88476515-88476528
66BMPR1A100.995622263914957159988683143-88683149
67GLUD1100.969588550983951167788854381-88854382, 88854395-88854412, 88854450-88854456, 88854480-88854503
68ZFYVE27100.9781553398058327123699510201-99510226, 99517407
69HPS1100.98338081671415352106100177371-100177394, 100177419-100177429
70FBXW4100.9967715899919341239103371144, 103454358-103454360
71HPS6100.98711340206186302328103825276-103825279, 103825441-103825446, 103825449-103825460, 103825491-103825493, 103825674, 103825734-103825737
72SUFU100.9986254295532621455104263983, 104263997
73CYP17A1100.9947609692206981527104590674-104590681
74COL17A1100.9997774810858914494105816916
75EMX2100.9855072463768111759119302790-119302793, 119302996-119302998, 119305310-119305313
76BAG3100.97569444444444421728121411262-121411263, 121411328-121411367
77HTRA1100.811503811503812721443124221180-124221247, 124221254, 124221279-124221294, 124221311-124221385, 124221409-124221432, 124221441-124221495, 124221508-124221525, 124221596-124221599, 124266222-124266232
78UROS100.998746867167921798127477439
79HRAS110.8771929824561470570532710-532726, 533453-533478, 533774-533781, 533868, 533937, 534212-534227, 534316
80TALDO1110.874753451676531271014747482-747535, 747549-747577, 763349-763355, 763400-763432, 763450, 763853-763854, 764831
81SLC25A22110.45061728395062534972791933-791969, 791980-792025, 792034-792068, 792145-792151, 792156, 792195-792214, 792304-792307, 792321, 792335, 792374-792432, 792553-792727, 792870, 792879, 792897-792900, 792905-792917, 792936-792965, 792974-792988, 794474, 794489, 794494-794513, 794776-794805, 794818-794825, 794872-794887, 794890-794893, 794899-794901, 794987
82PNPLA2110.729372937293734101515819719-819905, 821728, 821820-821826, 823527-823545, 823784-823800, 823809, 823998-824003, 824009-824039, 824062-824074, 824081, 824099-824108, 824118-824121, 824314-824315, 824332-824341, 824385-824388, 824425-824436, 824534, 824537, 824540-824542, 824555-824557, 824630-824642, 824659-824682, 824765, 824781, 824825-824862
83CTSD110.354317998385880012391774741-1774752, 1774755-1774756, 1774776, 1774792-1774794, 1774831-1774885, 1774896-1774900, 1775033-1775061, 1775076-1775086, 1775101-1775131, 1775224-1775283, 1775308-1775316, 1775339-1775368, 1778554-1778659, 1778669-1778707, 1778721-1778722, 1778749-1778769, 1778780, 1780199-1780314, 1780746-1780790, 1780805-1780869, 1782579-1782607, 1782639-1782698, 1785022-1785089
84TNNI2110.708561020036431605491861462-1861468, 1861634-1861674, 1861758-1861795, 1861802-1861865, 1862064, 1862092, 1862261-1862265, 1862295-1862296, 1862385
85TNNT3110.580437580437583267771946329-1946339, 1947936, 1950365, 1951040-1951058, 1954951-1954969, 1954979-1955025, 1955031, 1955036, 1955060, 1955161-1955238, 1955614-1955675, 1955776-1955784, 1955820, 1955826-1955829, 1955836-1955843, 1956109, 1958203, 1958228-1958233, 1959668-1959722
86H19110.8898225957049511810712017420-2017421, 2017752-2017758, 2017812, 2017815-2017816, 2017820, 2017824-2017829, 2017832, 2017838-2017842, 2017980-2018023, 2018032-2018072, 2018168, 2018294, 2018359-2018363, 2018374
87IGF2110.210970464135025617112154217-2154451, 2154755-2154824, 2154841-2154895, 2156597-2156606, 2156636-2156683, 2156710-2156759, 2161376-2161387, 2161394, 2161404, 2161417-2161444, 2161452-2161456, 2161468-2161472, 2161486-2161526
88TH110.20825396825397124715752185463-2185486, 2185500-2185520, 2185525-2185527, 2185547-2185622, 2186462-2186525, 2186534-2186581, 2186594-2186595, 2186913-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188667, 2188684-2188715, 2189096-2189163, 2189338-2189389, 2189396-2189401, 2189730-2189733, 2189743-2189758, 2189781-2189801, 2189828-2189829, 2189832-2189833, 2189836-2189845, 2189848, 2189870-2189873, 2190880-2190936, 2190951, 2190960-2191035, 2191059-2191092, 2191920-2192000, 2192932, 2192962-2193009
89KCNQ1110.7641555883801147920312466329-2466714, 2591906-2591932, 2592568-2592598, 2593264-2593278, 2608819-2608821, 2608889-2608892, 2790118-2790126, 2799206-2799209
90CDKN1C110.139852786540488189512905234-2905276, 2905341-2905364, 2905900-2906543, 2906554, 2906566-2906629, 2906657-2906669, 2906691-2906719
91SMPD1110.993143459915611318966411936-6411947, 6411959
92KCNJ11110.9889173060528613117317408525-17408536, 17409323
93ABCC8110.9932574799831432474617474736-17474742, 17498218-17498224, 17498286-17498303
94ANO5110.998905908096283274222277037-22277039
95WT1110.9710424710424745155432456552-32456566, 32456592-32456597, 32456681, 32456695-32456714, 32456806-32456807, 32456818
96PDHX110.997343957503324150634938203-34938206
97ALX4110.999190938511331123644286520
98SLC35C1110.9384469696969765105645827405-45827436, 45827609-45827633, 45827776-45827783
99PEX16110.9836695485110517104145935962, 45935979, 45937372, 45937377, 45939274-45939286
100F2110.9876939539860923186946741386-46741389, 46747621-46747631, 46750375-46750382
101MYBPC3110.9955555555555617382547368985, 47371472, 47371592-47371601, 47371608, 47373019-47373022
102SLC39A13110.9892473118279612111647436853-47436864
103RAPSN110.9241323648103394123947459526, 47460289-47460297, 47463236-47463258, 47463425-47463430, 47464227-47464258, 47464282-47464291, 47469473-47469476, 47469539, 47469542-47469545, 47469596, 47469660, 47470420-47470421
104NDUFS3110.98867924528302979547602508-47602514, 47603700-47603701
105BEST1110.997724687144484175861723276-61723279
106ROM1110.991477272727279105662380755-62380763
107SLC22A12110.8014440433213330166264359129-64359132, 64359149, 64359204-64359211, 64359242-64359263, 64359349-64359351, 64360314, 64360323-64360336, 64360934-64360937, 64361107-64361109, 64361164-64361209, 64365988-64366021, 64366280, 64366307-64366308, 64366334, 64366352-64366357, 64367160-64367191, 64367215-64367294, 64367314-64367362, 64367848-64367855, 64367862, 64367938-64367947
108PYGM110.9703440094899275252964520614-64520624, 64521099, 64521385-64521401, 64521766, 64521772, 64525277-64525283, 64526145, 64527128-64527138, 64527145-64527154, 64527296-64527310
109MEN1110.999458874458871184864577313
110EFEMP2110.993243243243249133265637416-65637422, 65637627, 65639803
111CST6110.895555555555564745065780297-65780343
112SPTBN2110.96431060922905256717366458850-66458852, 66460733-66460735, 66468297-66468299, 66468302, 66468337-66468355, 66468391-66468403, 66468463, 66472258, 66472316-66472324, 66472613-66472617, 66472643-66472650, 66472687-66472721, 66472896-66472919, 66473183, 66473256-66473258, 66473300, 66475054-66475065, 66475133-66475166, 66475207-66475215, 66475219-66475223, 66475248, 66475251, 66475625-66475650, 66475664-66475696, 66478184, 66478401, 66483304-66483306
113PC110.90641786824993331353766616428, 66617230-66617231, 66617235-66617241, 66617267, 66617707-66617708, 66617713, 66618262, 66618369-66618375, 66618380, 66618536, 66619910-66619951, 66620041, 66620047, 66620070, 66620082-66620098, 66620764, 66631289-66631324, 66631336-66631359, 66633668-66633672, 66633678, 66633732-66633738, 66638275-66638281, 66638348-66638356, 66638363, 66638621-66638625, 66638658, 66638838-66638866, 66638895, 66638898-66638910, 66638943-66638951, 66639158-66639173, 66639179-66639244, 66639304-66639310, 66639539-66639545
114CABP4110.8200483091787414982867222950-67222971, 67222978-67223002, 67223073, 67223076-67223077, 67223083-67223084, 67223087-67223092, 67223103-67223106, 67223115-67223174, 67223230, 67223659-67223679, 67223890, 67225083-67225084, 67225142, 67225925
115AIP110.4934541792547850399367254507-67254540, 67256751, 67256778-67256839, 67256859-67256871, 67256901-67256921, 67257509-67257511, 67257532-67257587, 67257595-67257616, 67257628-67257672, 67257793, 67257806-67257887, 67257896-67257928, 67258259-67258293, 67258326, 67258339-67258414, 67258436-67258447, 67258459-67258464
116NDUFS8110.808846761453412163367799656, 67799661, 67799665-67799672, 67799758, 67799780-67799786, 67799789-67799792, 67800390-67800420, 67800457, 67800473-67800478, 67800639-67800661, 67800675, 67800681, 67800690, 67800719-67800730, 67803720-67803738, 67803772-67803774, 67803943
117TCIRG1110.69634977938227757249367808739-67808748, 67808805, 67808817, 67808851, 67809220-67809227, 67809257-67809262, 67810110-67810150, 67810171-67810180, 67810191-67810236, 67810248-67810278, 67810281-67810299, 67810302-67810317, 67810443-67810480, 67810852-67810885, 67810904-67810920, 67810941, 67810964, 67811067, 67811077-67811092, 67811283-67811361, 67811599-67811600, 67811608-67811623, 67811634-67811663, 67811687, 67811699, 67811719, 67811728, 67811750-67811793, 67812527-67812536, 67814950-67814951, 67815011-67815021, 67815217-67815263, 67816552-67816580, 67816672-67816696, 67816720-67816721, 67816724, 67816752, 67816756-67816760, 67817130-67817132, 67817157-67817194, 67817207-67817247, 67817455-67817477, 67817483, 67817493, 67817505-67817525, 67817623, 67817638, 67817701-67817713, 67817717, 67818011, 67818018, 67818023, 67818026, 67818032-67818033, 67818050
118LRP5110.95998349834983194484868080183-68080264, 68080272-68080273, 68115682-68115685, 68201230, 68201239-68201249, 68201255-68201261, 68205984-68205987, 68207263-68207266, 68207346, 68207371-68207384, 68213949, 68213952-68213965, 68216306-68216309, 68216400, 68216434-68216471, 68216510-68216515
119IGHMBP2110.991616364855825298268671428-68671437, 68671474-68671479, 68682402, 68682464-68682471
120DHCR7110.9929971988795510142871149935-71149944
121MYO7A110.754362214199761633664876841690, 76858899, 76858902-76858905, 76858910-76858912, 76858920, 76868015, 76868019-76868025, 76873348-76873358, 76883794-76883796, 76883828-76883921, 76885802-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891487, 76891498-76891527, 76892426-76892623, 76892635, 76892997-76893128, 76893154-76893165, 76893176-76893200, 76893471-76893582, 76893618-76893645, 76894113-76894117, 76894176, 76895650-76895699, 76895722-76895747, 76900389-76900399, 76900417, 76900421-76900429, 76900436, 76900440, 76900450-76900461, 76900507, 76901082, 76901101-76901102, 76901158, 76901166, 76901172, 76901182-76901184, 76901758, 76901774, 76901790-76901795, 76901809-76901817, 76901829-76901853, 76901902-76901915, 76903174, 76903212-76903230, 76903257-76903277, 76905444, 76908526-76908539, 76909569, 76909645-76909653, 76919784
122FZD4110.9696406443618349161486666075-86666123
123ATM110.9994548031839559171108124589, 108153570, 108153573-108153575
124DLAT110.9974279835390951944111896260-111896262, 111896973, 111896976
125APOA1110.9614427860696531804116706711-116706724, 116706787-116706803
126FXYD2110.9360730593607328438117693267-117693268, 117693279-117693296, 117693307-117693314
127TECTA110.99829853054911116465120989015, 120989181-120989183, 120989315-120989320, 120989408
128ROBO3110.99639509733237154161124739419-124739433
129WNK1120.98992866135124727149862850-862851, 862889-862895, 862897-862908, 862937-862947, 863079, 863145-863152, 863166-863168, 863214-863216, 863275-863299
130CACNA2D4120.991212653778563034141906584-1906585, 1906622-1906643, 1906675-1906680
131CACNA1C120.997408931565311765612676785, 2788719-2788721, 2788899, 2794934-2794940, 2797891-2797894, 2800354
132VWF120.9866145463160411384426058298-6058303, 6125338-6125344, 6127940-6127946, 6128099-6128105, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166137-6166139, 6166188-6166204
133TNFRSF1A120.975146198830413413686438573-6438606
134TPI1120.968247506976731-6976749, 6976841-6976845
135ATN1120.99776098516653835737045892-7045894, 7050650-7050654
136PEX5120.992088607594941518967343106-7343120
137GYS2120.9928977272727315211221712026-21712040
138DNM1L120.9850746268656733221132866172, 32866207-32866221, 32866239, 32866247-32866251, 32866263-32866264, 32866272, 32875513-32875520
139PKP2120.9681782020684280251433003700-33003718, 33049518-33049570, 33049624-33049631
140LRRK2120.9984177215189912758440761524-40761532, 40761563, 40761566-40761567
141COL2A1120.999327956989253446448372434-48372435, 48398080
142MLL2120.945828819068269001661449420663, 49420778-49420824, 49422627, 49423204-49423216, 49424108-49424136, 49424164-49424178, 49424465, 49424472, 49425091-49425100, 49425149, 49425250, 49425664-49425676, 49425780-49425804, 49425820-49425843, 49425879-49425880, 49425945, 49425955, 49426146-49426191, 49426478-49426488, 49426527, 49426566-49426569, 49426602-49426647, 49426666-49426698, 49426708-49426791, 49426900-49426902, 49426905-49426922, 49426957-49426963, 49426966-49426969, 49427027, 49427032, 49427048-49427066, 49427076-49427077, 49427125, 49427197-49427204, 49427221, 49427231-49427240, 49427247-49427300, 49427311-49427333, 49427406-49427409, 49427430-49427454, 49427514-49427518, 49427524, 49427652, 49427658, 49427661-49427667, 49427685, 49427738-49427740, 49427869-49427871, 49427878, 49427996, 49428031-49428036, 49430932, 49430995, 49431002-49431003, 49431007, 49431081, 49431214, 49431281-49431320, 49431421, 49431483-49431485, 49431501-49431545, 49431552-49431560, 49431563, 49431592-49431593, 49431599-49431601, 49431608-49431614, 49431672-49431703, 49431765-49431768, 49431851-49431897, 49431993-49431999, 49432503, 49433304, 49433315-49433329, 49433386, 49433524-49433525, 49433622-49433634, 49433702, 49433730-49433733, 49433750, 49433768, 49433771, 49434001-49434014, 49434045-49434051, 49434073-49434074, 49434081, 49434115-49434116, 49434889-49434891
143TUBA1A120.872807017543865845649522235-49522272, 49522303-49522320, 49522445, 49522605
144AQP2120.985294117647061281650349264-50349268, 50349344-50349350
145KRT81120.9736495388669340151852684040-52684050, 52685072-52685081, 52685102, 52685116-52685122, 52685184-52685194
146KRT86120.991786447638612146152695848, 52695854, 52696905-52696914
147KRT6B120.9870206489675522169552844265, 52845528-52845534, 52845598-52845604, 52845798-52845804
148KRT6C120.9563421828908674169552865900-52865928, 52867187-52867193, 52867243-52867273, 52867457-52867463
149KRT6A120.9876106194690321169552886708-52886714, 52886864-52886870, 52886908-52886914
150KRT5120.999435984207561177352908894
151KRT1120.999483204134371193553072490
152AAAS120.9847653869591725164153703420-53703433, 53708207-53708217
153TSFM120.99693251533742397858176586, 58176593, 58176598
154GNS120.9927667269439412165965152972-65152977, 65152984, 65153008-65153012
155CEP290120.99973118279572744088472956, 88532947
156TMPO120.9952038369304610208598909890, 98909902, 98909906, 98909909-98909911, 98921733, 98921743, 98926605-98926606
157SLC17A8120.9971751412429451770100797869-100797873
158UNG120.9819532908704917942109535568-109535573, 109536312-109536315, 109547731, 109547769-109547774
159MMAB120.997343957503322753109999233, 110011153
160MVK120.998320738874921191110019311, 110034234
161TRPV4120.97706422018349602616110221449-110221451, 110226324, 110230487-110230492, 110230583, 110231402-110231404, 110234474-110234475, 110236427-110236438, 110236618, 110246160-110246182, 110252428-110252435
162ATP2A2120.98338127197188523129110778782, 110780070, 110783885-110783886, 110784008-110784029, 110784147-110784172
163ATXN2120.840182648401836303942111891519, 112036588-112036834, 112036850-112036897, 112036910-112037168, 112037188-112037233, 112037238, 112037258-112037276, 112037281-112037285, 112037289-112037291, 112037309
164HNF1A120.946202531645571021896121416622, 121434167-121434199, 121434356, 121437314, 121437319-121437321, 121437367-121437369, 121437400-121437416, 121438888-121438930
165HPD120.9932318104906981182122286906, 122286949-122286951, 122295311-122295314
166EIF2B1120.995642701525054918124114720-124114722, 124114786
167ATP6V0A2120.9852197588487382571124197113-124197136, 124197157-124197170
168PUS1120.97196261682243361284132414275, 132414287, 132414304-132414307, 132414319, 132414331-132414334, 132414461, 132414478, 132414517-132414534, 132425967, 132425997-132426000
169PDX1130.99882629107981185228494349
170B3GALTL130.9746158984635938149731774222-31774226, 31774249-31774281
171FREM2130.999894847528921951039261946
172SLC25A15130.99227373068433790641382658-41382664
173SUCLA2130.993534482758629139248571067-48571075
174ZIC2130.771732332707943651599100634319-100634323, 100634387-100634438, 100634523-100634603, 100634687-100634688, 100634741-100634758, 100634800-100634824, 100634848-100634857, 100635008-100635010, 100635178-100635201, 100637614-100637620, 100637653, 100637656, 100637661-100637670, 100637680-100637717, 100637725-100637726, 100637729-100637732, 100637740, 100637753-100637772, 100637780-100637783, 100637817-100637842, 100637858-100637868, 100637883-100637885, 100637915-100637931
175PCCA130.97165066300869622187100741426, 100741431-100741457, 101101506-101101539
176COL4A1130.99560878243513225010110959353-110959374
177F7130.35655430711618591335113760156-113760163, 113760176-113760205, 113765004-113765007, 113765038-113765135, 113765142, 113768161, 113768213, 113768239-113768272, 113769974-113770036, 113770045-113770079, 113770086-113770109, 113771120-113771121, 113771126-113771133, 113771136-113771137, 113771159-113771179, 113771802-113771817, 113771835-113771853, 113771869-113771870, 113771881, 113771904-113771910, 113772727-113772773, 113772782-113772824, 113772830-113772837, 113772847-113772940, 113772947-113772972, 113772994-113773110, 113773126, 113773142-113773211, 113773230-113773275, 113773293-113773322
178F10130.896387184730741521467113777170-113777239, 113795286, 113795317, 113798216-113798230, 113798236-113798239, 113798268, 113798271, 113798314-113798315, 113798372-113798375, 113798387-113798409, 113803284, 113803536-113803538, 113803550, 113803572-113803576, 113803602, 113803642-113803644, 113803661-113803676
179GRK1130.98817966903073201692114321775, 114321926, 114322029-114322030, 114322241-114322243, 114325926, 114325950-114325957, 114426090-114426093
180TEP1140.999619482496193788420850467-20850469
181SLC7A7140.999348958333331153623282126
182PABPN1140.959826275787193792123790681-23790683, 23790696-23790705, 23790921-23790932, 23791007-23791018
183MYH6140.999484536082473582023870146-23870148
184MYH7140.998622589531688580823894012-23894019
185NRL140.949579831932773671424550445-24550448, 24550573-24550576, 24550589-24550614, 24551822-24551823
186TINF2140.993362831858419135624711494-24711499, 24711517, 24711521-24711522
187TGM1140.997962510187455245424724292-24724295, 24727789
188FOXG1140.82925170068027251147029236624-29236626, 29236670-29236713, 29236731-29236745, 29236755-29236913, 29236920-29236949
189COCH140.999395039322441165331344286
190NKX2-1140.9303482587064784120636986819-36986849, 36986872-36986910, 36988371-36988384
191FANCM140.999023914104446614745623981-45623982, 45623986, 45628299-45628301
192C14orf104140.9729514717581568251450100683, 50100846, 50101014-50101016, 50101019, 50101093-50101116, 50101260-50101266, 50101341-50101361, 50101403, 50101413, 50101750-50101757
193PYGL140.999213836477992254451381436-51381437
194GCH1140.918990703851266175355369126, 55369132-55369137, 55369235-55369242, 55369262-55369305, 55369356, 55369365
195SYNE2140.9999034935340722072464483225-64483226
196ZFYVE26140.9993438320215762068242686-68242690
197VSX2140.99263351749548108674706475-74706482
198TGFB3140.999192897497981123976446990
199POMT2140.9596094096759991225377745193, 77745197, 77786857-77786881, 77786908-77786911, 77786936-77786994, 77786999
200ATXN3140.99631675874774108692537354-92537357
201AMN140.03597650513950113131362103389026-103389063, 103390048-103390065, 103390078, 103390091-103390118, 103390128-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396781, 103396793-103396830, 103396913-103397017
202INF2140.29626403750105167709-105167742, 105167757-105167758, 105167783-105167833, 105167850-105167851, 105167860-105168002, 105168006-105168012, 105168023-105168069, 105168082, 105169442-105169557, 105169632-105169686, 105169703-105169725, 105169744-105169791, 105170253-105170286, 105172372-105172407, 105172425-105172441, 105172457, 105172488, 105172503-105172513, 105173265, 105173284-105173285, 105173300, 105173335-105173377, 105173590-105173666, 105173691-105173700, 105173707, 105173719, 105173724-105173802, 105173814-105174339, 105174795-105174852, 105174867-105174869, 105174875-105174924, 105175052-105175060, 105175065-105175069, 105175618-105175659, 105175682-105175685, 105175692, 105175695-105175698, 105175957-105175974, 105175986-105175989, 105175994-105175995, 105176028-105176042, 105176427, 105176440-105176459, 105176476-105176486, 105176490-105176494, 105176505-105176525, 105177274-105177300, 105177322-105177344, 105177416-105177419, 105177426-105177523, 105177966-105177979, 105177989-105178036, 105178770-105178780, 105178801-105178827, 105178873-105178890, 105179165-105179180, 105179184, 105179194, 105179200-105179203, 105179208, 105179252-105179292, 105179307, 105179310-105179318, 105179544-105179560, 105179568, 105179571, 105179580-105179636, 105179782-105179921, 105179943, 105180540-105180553, 105180560-105180618, 105180629, 105180638-105180658, 105180662, 105180666-105180667, 105180670, 105180697-105180718, 105180744, 105180766-105180805, 105180838-105180867, 105180906-105180984, 105180991-105181036, 105181060-105181069, 105181072, 105181088-105181172, 105181635-105181654, 105181660-105181661, 105181665
203NIPA1150.8202020202020217899023086234-23086411
204IVD150.9914129586260711128140698027-40698037
205CHST14150.83996463306808181113140763424-40763448, 40763468, 40763472-40763557, 40763579-40763589, 40763596, 40763648-40763682, 40763708-40763714, 40763747-40763753, 40764536-40764543
206CDAN1150.995656894679716368443028684-43028695, 43028706, 43028722-43028724
207SPG11150.999863611565741733244864897
208GATM150.9897798742138413127245670605-45670617
209FBN1150.999883936861651861648936953
210SPG21150.99892125134844192765262472
211MAP2K1150.990693739424711118266679739-66679748, 66679752
212CLN6150.99893162393162193668521900
213HEXA150.9528301886792575159072668080-72668129, 72668154, 72668162-72668164, 72668267-72668287
214HCN4150.79872646733112727361273614883-73614898, 73615103, 73615106, 73615414-73615433, 73615492, 73615736-73615750, 73616002-73616039, 73616142-73616145, 73616151, 73616430-73616455, 73659834-73659883, 73659959-73659963, 73659975, 73659985, 73659988-73659999, 73660029-73660050, 73660061, 73660072-73660206, 73660217-73660261, 73660271-73660381, 73660391-73660611
215PSTPIP1150.21822541966427978125177310489-77310513, 77310536-77310589, 77310798-77310830, 77310842, 77310865-77310872, 77317625-77317659, 77317857-77317872, 77317898-77317925, 77320215-77320241, 77320904-77320922, 77320929, 77320959-77320993, 77321876-77321879, 77321902-77321915, 77322843-77322922, 77323521-77323576, 77323588-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
216RPS17150.99754901960784140883208823
217POLG150.9927419354838727372089872181-89872184, 89876667-89876675, 89876826-89876839
218MESP2150.7998324958124239119490319605-90319613, 90319670-90319672, 90319746-90319767, 90319843-90319886, 90319909-90319910, 90319931, 90319934-90319945, 90319974-90319975, 90319980-90319981, 90320010-90320018, 90320057-90320062, 90320067, 90320088-90320102, 90320116-90320164, 90320170-90320188, 90320238-90320252, 90320358-90320384, 90320439
219BLM150.9910672308415638425491303427-91303446, 91304139, 91337399-91337408, 91337509, 91337528-91337533
220VPS33B150.997842502696874185491565401-91565404
221IGF1R150.9973196881091611410499192891-99192901
222HBZ160.6037296037296170429202921-202932, 202978, 203931-203944, 203955-203998, 204011, 204024, 204034-204037, 204048, 204060-204087, 204271-204272, 204278-204308, 204325-204353, 204387-204388
223HBM160.997652582159621426216023
224HBA2160.63170163170163158429222912-222936, 222956-223006, 223174-223227, 223296-223321, 223532, 223543
225GNPTG160.861655773420481279181401967-1402014, 1402103-1402128, 1402160, 1402240-1402256, 1402267, 1402276-1402307, 1412283-1412284
226CLCN7160.39578163771712146124181496632-1496718, 1497014, 1497017-1497051, 1497057-1497087, 1497393-1497429, 1497444-1497495, 1497515-1497569, 1497656-1497688, 1497709-1497715, 1498360-1498379, 1498393-1498410, 1498414-1498419, 1498432-1498485, 1498682-1498702, 1498711-1498767, 1499003-1499071, 1499084-1499094, 1499277-1499321, 1500498-1500667, 1501624-1501681, 1502756-1502767, 1502778-1502823, 1502832-1502894, 1503836, 1503855-1503875, 1503879, 1504412-1504418, 1504445-1504466, 1505135-1505145, 1505163, 1505169-1505182, 1505209-1505250, 1505766-1505788, 1505795-1505796, 1506122-1506206, 1507291, 1507331-1507338, 1507731-1507738, 1509108-1509188, 1511408, 1511444-1511456, 1524835-1524948, 1524959-1524975
227IGFALS160.40734989648033114519321840601-1840680, 1840719-1840740, 1840765-1840810, 1840818-1840826, 1840838, 1840846-1840861, 1840871-1840897, 1840928-1840968, 1840985-1841008, 1841021-1841022, 1841025-1841041, 1841055-1841081, 1841087-1841109, 1841123, 1841126-1841143, 1841153-1841154, 1841184-1841186, 1841227-1841274, 1841306-1841313, 1841346-1841377, 1841391-1841425, 1841440-1841442, 1841467-1841514, 1841547-1841580, 1841599-1841638, 1841682-1841692, 1841716-1841721, 1841733, 1841740-1841758, 1841773, 1841784-1841793, 1841841-1841868, 1841902-1841947, 1841963-1841965, 1841968-1842068, 1842074-1842098, 1842108-1842142, 1842158, 1842171-1842176, 1842193, 1842198, 1842201-1842213, 1842249-1842270, 1842276-1842295, 1842316-1842347, 1842352-1842455, 1842463-1842470, 1842479-1842516, 1843648-1843653
228GFER160.495145631067963126182034220-2034292, 2034310-2034477, 2034763, 2034766, 2034780-2034801, 2034827, 2034835-2034837, 2034891-2034892, 2034924-2034936, 2035867-2035882, 2035907-2035910, 2035947, 2035999-2036005
229TSC2160.19469026548673436854242098660-2098700, 2098716-2098754, 2100423-2100426, 2100437-2100444, 2100482-2100487, 2103343-2103356, 2103377-2103453, 2104336-2104360, 2104400-2104422, 2107164, 2108748-2108796, 2108814, 2108857-2108874, 2110671-2110690, 2110699-2110726, 2110739-2110814, 2111896, 2111934-2111944, 2111948, 2111984, 2111989, 2112498-2112557, 2112579, 2112583, 2112589-2112601, 2112973-2113021, 2113029-2113054, 2114273-2114428, 2115537-2115561, 2115567-2115587, 2115594-2115624, 2120462-2120508, 2120523-2120579, 2121511-2121617, 2121785-2121935, 2122254-2122298, 2122301, 2122329, 2122340-2122364, 2122850-2122893, 2122906-2122976, 2124201-2124262, 2124276-2124390, 2125800-2125822, 2125848-2125892, 2126069-2126171, 2126492-2126586, 2127599-2127606, 2127629-2127710, 2127721-2127727, 2129033-2129154, 2129162-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
230PKD1160.001084262701363112898129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143628, 2143633, 2143636-2143641, 2143650-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
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232MEFV160.988064791133842823463297175, 3304398-3304421, 3304513-3304514, 3306330
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399PNKP190.999361430395911156650364713
400MYH14190.9774177712322138611150764732-50764738, 50764789-50764791, 50764796-50764844, 50764885-50764892, 50766574-50766617, 50770204-50770215, 50770222-50770236
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410KLF1120.9727095516569242153910183844-10183885
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429ALMS120.999280230326391250473613032-73613037, 73613062, 73747024, 73828342
430SLC4A520.9941417691857120341474474415-74474434
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432HTRA220.997095134350044137774757251-74757254
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434EIF2AK320.996717397791711335188926730-88926740
435TMEM12720.898186889818697371796930876-96930902, 96930996-96931000, 96931042, 96931059, 96931067-96931105
436ZAP7020.99892473118282186098340552-98340553
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438MERTK20.99633333333333113000112656321-112656327, 112786194-112786197
439PAX820.9963045084996351353113994203-113994207
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442PROC20.96392496392496501386128180493, 128180658-128180683, 128180695-128180711, 128186173-128186178
443CFC120.72172619047619187672131280363-131280414, 131280451-131280466, 131280742-131280765, 131280781-131280820, 131285279-131285324, 131285348-131285354, 131285375, 131285396
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445GALNT320.9994742376445811902166627122
446SCN1A20.9994997498749435997166895933-166895934, 166908307
447SCN9A20.9998314796090315934167083172
448ITGA620.999389499389523276173292517-173292518
449CHN120.9956521739130461380175869622-175869627
450HOXD1320.890503875968991131032176957619-176957637, 176957671-176957732, 176957743-176957751, 176957790-176957801, 176957949-176957952, 176957965-176957971
451TTN20.999930173170547100248179516650-179516656
452CERKL20.9949968730456581599182468626-182468627, 182468638, 182468648-182468649, 182468742-182468744
453HSPD120.9994192799070811722198351838
454ACADL20.993812838360481293211089918-211089925
455PNKD20.99050086355786111158219204542, 219204546-219204547, 219204605, 219204615-219204620, 219209276
456WNT10A20.885167464114831441254219745718-219745723, 219745730, 219745757-219745768, 219745801-219745824, 219757537-219757578, 219757611-219757617, 219757765-219757768, 219757865-219757912
457DES20.895258315640481481413220283201, 220283214, 220283235-220283295, 220283343-220283365, 220283447, 220283621-220283656, 220283699-220283720, 220283743, 220286189-220286190
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459CHRND20.98519948519949231554233390931, 233390937-233390947, 233390957-233390967
460SAG20.999178981937611218234229282
461COL6A320.9993706733794869534238249095-238249096, 238249298-238249301
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464AVP200.579797979797982084953063328-3063382, 3063389-3063430, 3063623-3063693, 3063707, 3063764-3063791, 3063811-3063821
465PANK2200.989492119089321817133870097-3870113, 3870124
466JAG1200.9786710418375778365710653568, 10653571, 10653606-10653630, 10654105-10654111, 10654135-10654178
467THBD200.998263888888893172823029148-23029150
468SNTA1200.83069828722003257151832000116-32000142, 32000165, 32000219-32000227, 32000381, 32000404-32000418, 32000529, 32000551-32000588, 32031173-32031193, 32031213-32031269, 32031292-32031297, 32031319-32031357, 32031360, 32031363-32031398, 32031417, 32031423-32031426
469GDF5200.9880478087649418150634025275-34025292
470SAMHD1200.997873471557684188135526310-35526313
471HNF4A200.9831578947368424142543052773-43052775, 43052793, 43052875-43052894
472ADA200.9963369963374109243280227-43280230
473CTSA200.99398797595199149744520208-44520209, 44520238-44520240, 44523633-44523636
474SALL4200.9955724225173914316250418830-50418843
475GNAS200.7005420054200522173857415178-57415215, 57415239-57415248, 57415273-57415287, 57415313-57415361, 57415396-57415433, 57415461-57415470, 57415478-57415481, 57415556-57415558, 57415561-57415576, 57415607-57415608, 57415612-57415615, 57415667, 57415693, 57415731, 57415812-57415816, 57415876-57415899
476GNAS200.88824662813102348311457428849-57428850, 57428908-57428914, 57428944-57428967, 57429068-57429106, 57429145-57429151, 57429191-57429224, 57429257-57429267, 57429431-57429497, 57429516-57429521, 57429627-57429629, 57429642-57429663, 57429671-57429694, 57429739-57429756, 57429819-57429823, 57429863-57429867, 57429943-57429948, 57429969-57430015, 57430099-57430107, 57430153-57430164
477COL9A3200.61703163017032787205561448417-61448494, 61448919-61448987, 61449870-61449876, 61449894, 61450574-61450578, 61450590, 61450607-61450632, 61451297-61451301, 61451308-61451313, 61451319-61451325, 61451334, 61452537-61452568, 61453109-61453138, 61453474, 61453477-61453511, 61455817-61455830, 61455847-61455853, 61456320-61456373, 61457169-61457210, 61457581-61457582, 61457588-61457594, 61458119-61458136, 61458142-61458172, 61458595-61458638, 61459294-61459328, 61460135, 61460834-61460835, 61460980-61460993, 61461001-61461025, 61461118-61461130, 61461712-61461729, 61461745, 61461748-61461753, 61461756-61461762, 61461869-61461875, 61461886-61461925, 61463506-61463527, 61464372-61464408, 61467548, 61467608-61467618, 61467654-61467669, 61467877-61467881, 61468534, 61468539, 61468558
478CHRNA4200.0631634819532911765188461978090-61978215, 61981005-61981802, 61981821-61981856, 61981860-61981863, 61981884, 61981894, 61981897-61981899, 61981921-61982142, 61982158-61982201, 61982206-61982207, 61982227-61982264, 61982273-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
479KCNQ2200.41313478426881537261962037997-62038170, 62038179-62038393, 62038401-62038476, 62038483-62038485, 62038490-62038646, 62038662-62038728, 62039780-62039815, 62039841-62039865, 62044825-62044833, 62044837-62044839, 62044863-62044872, 62044883-62044916, 62045442-62045457, 62045515-62045516, 62045529, 62046256-62046260, 62046276-62046305, 62046323-62046361, 62046375, 62046391, 62046418, 62046423, 62059745-62059762, 62059769-62059788, 62065171-62065210, 62065247, 62070020-62070026, 62070966-62070968, 62070971, 62070986, 62071001, 62071025-62071061, 62073775-62073783, 62073794-62073796, 62073806, 62073809, 62073850-62073854, 62073859-62073864, 62076050, 62076053, 62076068-62076120, 62076132-62076142, 62076153-62076187, 62076621, 62076636-62076637, 62076640-62076690, 62076695-62076705, 62076713-62076717, 62078100-62078106, 62078110-62078111, 62078116, 62103521-62103816
480SOX18200.0190476190476191133115562679519-62679544, 62679551-62679589, 62679606-62680315, 62680512-62680869
481APP210.996973627323827231327394182-27394184, 27542903-27542906
482IFNGR2210.918145956607583101434775850-34775922, 34804633-34804634, 34809202-34809209
483RCAN1210.910408432147566875935987073, 35987192-35987231, 35987247-35987248, 35987269-35987293
484CBS210.9734299516908244165644476927-44476935, 44479027-44479055, 44483168-44483173
485AIRE210.278388278388281182163845705890-45706005, 45706016, 45706444-45706499, 45706531-45706564, 45706591-45706614, 45706861-45706871, 45706878-45706883, 45706906-45706907, 45706910-45706934, 45706948-45707002, 45707015-45707016, 45707404-45707423, 45707429-45707468, 45708228-45708241, 45708259, 45708277-45708278, 45708290-45708294, 45708305-45708306, 45708310-45708341, 45709561-45709685, 45709876-45709908, 45709933-45709943, 45711028-45711037, 45711053, 45711061-45711093, 45712185-45712223, 45712236, 45712876-45712918, 45712928-45712930, 45712933, 45712943-45712966, 45712973-45713016, 45713025-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717546-45717557, 45717575, 45717580-45717610
486ITGB2210.87619047619048286231046308608-46308627, 46308668-46308699, 46308704, 46308717-46308757, 46308784-46308810, 46309205-46309230, 46309239-46309266, 46309302, 46309356-46309362, 46309387-46309394, 46309399-46309406, 46310055-46310058, 46310124, 46311752, 46311813, 46311817-46311835, 46311904, 46311908-46311911, 46313332-46313339, 46313363-46313393, 46313442, 46320363-46320377, 46326968
487COL18A1210.50028490028492631526546875445-46875454, 46875467, 46875470-46875475, 46875656-46875662, 46875768-46875802, 46875848-46875849, 46875857, 46875952-46875954, 46876052, 46876056, 46876109, 46876189, 46876237-46876262, 46876282-46876312, 46876368, 46876392-46876421, 46876511-46876558, 46876569, 46876573-46876574, 46876609-46876684, 46876702-46876751, 46876773-46876795, 46888156, 46888178-46888180, 46888196-46888266, 46888323-46888371, 46888518-46888546, 46888642, 46893885-46893895, 46895390-46895391, 46896301-46896362, 46897708, 46899864, 46899867, 46899873, 46900061-46900067, 46900622, 46900645, 46900650-46900667, 46900670-46900673, 46900721-46900731, 46906775-46906777, 46906784-46906810, 46906822-46906885, 46907361-46907385, 46907423, 46908332-46908358, 46909403-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911142, 46911161-46911228, 46912449-46912465, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914469, 46914473-46914485, 46914776-46914788, 46914812-46914817, 46914820, 46915272-46915314, 46915334-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924470, 46925048-46925192, 46925272-46925345, 46925752-46925858, 46925880, 46927475-46927507, 46929270-46929313, 46929343-46929345, 46929347-46929375, 46929394-46929411, 46929417-46929446, 46929455-46929482, 46929490-46929515, 46929978-46930045, 46930051-46930175, 46931025-46931089, 46931095-46931117, 46931123-46931140, 46932114, 46932122-46932127, 46932136-46932244, 46932251-46932294, 46932303-46932312
488COL6A1210.502105604146421537308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409013, 47409033-47409044, 47409522-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410689, 47410695-47410709, 47410724-47410740, 47410893-47410913, 47410931, 47410941-47410951, 47411924-47411951, 47412078-47412081, 47412280, 47412308, 47412677, 47414088, 47414092-47414097, 47414106-47414138, 47417355-47417390, 47417614-47417638, 47417650-47417673, 47418035-47418044, 47418053-47418085, 47418820-47418865, 47419067-47419095, 47419571-47419594, 47421202, 47421213-47421222, 47421275-47421283, 47421908-47421928, 47421957-47421963, 47422206-47422208, 47422247-47422262, 47422312, 47422532, 47422541-47422542, 47422545-47422546, 47423034-47423051, 47423385-47423392, 47423461-47423480, 47423506-47423508, 47423513-47423521, 47423538-47423542, 47423548-47423552, 47423555-47423557, 47423608, 47423631-47423666, 47423719, 47423728-47423730, 47423741, 47423829-47423835
489COL6A2210.302287581699352135306047531401, 47531414-47531488, 47531497-47531505, 47531912-47531957, 47531987-47532035, 47532042-47532050, 47532063-47532076, 47532090, 47532120-47532163, 47532191-47532209, 47532249-47532255, 47532262-47532319, 47532330, 47532398-47532437, 47533945-47533987, 47535827, 47535833-47535839, 47535923-47535930, 47535943-47535960, 47536291-47536307, 47536579-47536591, 47536684-47536699, 47536704-47536713, 47537314-47537367, 47537788-47537812, 47537825-47537850, 47538528-47538590, 47538944-47539023, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541513, 47541529-47541532, 47542022-47542072, 47542410-47542421, 47542442-47542445, 47542819-47542851, 47544585-47544586, 47544593-47544594, 47544606-47544618, 47544625-47544626, 47544799-47544801, 47544834, 47545185-47545187, 47545197, 47545206, 47545209-47545213, 47545225, 47545382-47545385, 47545389-47545395, 47545421-47545431, 47545444-47545495, 47545525-47545528, 47545699-47545719, 47545736, 47545742-47545760, 47545768-47545771, 47545774, 47545780-47545841, 47545849-47545916, 47545931-47545994, 47546042-47546056, 47546058, 47546072, 47546084-47546097, 47546105-47546151, 47546438-47546439, 47546443-47546455, 47551868-47552466
490COL6A221034234247552183-47552524
491FTCD210.0756457564575651503162647556901-47556907, 47556929-47556987, 47557159, 47557167, 47557171, 47557180-47557248, 47558422-47558560, 47558817-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570111, 47570129-47570164, 47570302-47570381, 47570393-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574216, 47574223-47574246, 47575405-47575437
492PCNT210.988512636100291151001147744143-47744156, 47744170-47744196, 47786648-47786649, 47786691-47786703, 47787002, 47801638-47801641, 47808790, 47836680-47836682, 47836729-47836740, 47841945, 47848446-47848458, 47848467-47848480, 47850120-47850129
493PEX26220.950980392156864591818561205-18561213, 18561218-18561219, 18561339-18561372
494PRODH220.81364392678869336180318900747-18900780, 18904414, 18904417, 18905865-18905902, 18907039-18907045, 18908916-18908936, 18909844, 18912652, 18912686, 18923528-18923709, 18923745-18923747, 18923750-18923772, 18923778-18923800
495GP1BB22062162119711093-19711102, 19711377-19711987
496TBX1220.58064516129032624148819747167-19747186, 19748428-19748695, 19748725-19748734, 19753311-19753318, 19753339-19753348, 19753430-19753468, 19753474-19753480, 19753494-19753514, 19753912-19753981, 19753991-19754049, 19754067, 19754070, 19754082, 19754132-19754152, 19754187-19754200, 19754210-19754220, 19754246-19754252, 19754283-19754329, 19754352-19754360
497SMARCB1220.998272884283252115824175827, 24175830
498CHEK2220.92163543441227138176129083895-29083937, 29083948-29083965, 29085149-29085171, 29090020-29090057, 29091142, 29091737-29091743, 29091837-29091844
499TCN2220.9883177570093515128431011607-31011613, 31022447-31022454
500TIMP3220.963836477987422363633197989-33198003, 33198006, 33198049-33198055
501MYH9220.9942206357300734588336689419-36689421, 36689427-36689430, 36690221, 36695079, 36697074-36697077, 36697589-36697592, 36697595-36697598, 36697709-36697711, 36698666, 36698698, 36702042-36702048, 36702057
502TRIOBP220.95886165116934292709838109257, 38109310-38109331, 38119879-38119905, 38120030-38120068, 38121835, 38121916-38121920, 38122178-38122221, 38122318-38122321, 38122448, 38122462, 38122495-38122510, 38129305-38129315, 38129345-38129349, 38129396, 38129401, 38129406, 38129410-38129419, 38130459, 38130528-38130543, 38130563-38130586, 38130939-38130956, 38130991-38130992, 38130995-38131004, 38131016, 38131035-38131040, 38131156, 38131163-38131169, 38131234-38131238, 38131395-38131397, 38131421-38131422, 38136910-38136915
503SOX10220.85724482512491200140138373929-38373942, 38379382-38379407, 38379413-38379431, 38379446-38379457, 38379467, 38379521-38379581, 38379649-38379654, 38379672-38379719, 38379740-38379750, 38379781-38379782
504PLA2G6220.1165644171779143248938508274-38508312, 38508511-38508584, 38509494-38509572, 38509583, 38509588-38509590, 38509604-38509722, 38509742-38509827, 38509839-38509869
505PLA2G6220.6575795125981829242138508168-38508312, 38508511-38508584, 38509494-38509572, 38509583, 38509588-38509590, 38509604-38509661, 38511534-38511550, 38511581-38511688, 38512082-38512099, 38512128-38512218, 38516802-38516859, 38516883-38516899, 38519102-38519199, 38519226-38519236, 38522378-38522389, 38524357, 38524369-38524371, 38524397-38524416, 38524425-38524427, 38528904-38528915
506TNFRSF13C220.3135135135135138155542321410-42321415, 42321478-42321484, 42321488, 42322105-42322335, 42322642-42322777
507NAGA220.998381877022652123642466296-42466297
508CYB5R3220.96357615894043390643026904-43026912, 43027384-43027386, 43045301-43045321
509ATXN10220.9684873949579845142846067956-46067970, 46068021-46068050
510TRMU220.89178515007899137126646731675-46731685, 46731693-46731737, 46751341-46751342, 46751348-46751384, 46751429-46751430, 46751437, 46751951-46751968, 46752764-46752766, 46752809, 46752838-46752840, 46752847-46752856, 46752864-46752865, 46752881-46752882
511ALG12220.9631901840490854146750301476, 50303638, 50303713-50303736, 50307048-50307055, 50307267, 50307363-50307381
512MLC1220.8289241622575194113450502467-50502542, 50502554-50502583, 50502589-50502627, 50506947-50506960, 50512648-50512659, 50512694-50512703, 50512744-50512756
513SCO2220.90636704119857580150962081-50962111, 50962516-50962550, 50962610-50962611, 50962658-50962660, 50962665, 50962760, 50962772, 50962779
514TYMP220.44306418219462807144950964199-50964347, 50964430-50964570, 50964675-50964773, 50964782-50964817, 50964824-50964866, 50964869-50964905, 50965005-50965035, 50965056-50965100, 50965115-50965150, 50965634-50965647, 50967571-50967580, 50967647-50967693, 50967932-50967944, 50967983-50968027, 50968069-50968079, 50968088-50968137
515ARSA220.9429133858267787152451063671-51063678, 51063683-51063684, 51063697-51063699, 51063714-51063738, 51063825-51063849, 51064600-51064606, 51065695-51065698, 51066189-51066201
516SHANK3220.464149504195272810524451113070-51113132, 51113476-51113679, 51115061, 51115104-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133203-51133258, 51133289-51133342, 51133351-51133388, 51133424-51133470, 51135671-51135719, 51135951-51136143, 51137140-51137149, 51137175-51137185, 51142602, 51142605, 51143210-51143250, 51143256-51143286, 51143497-51143524, 51144525-51144535, 51144547-51144555, 51144559-51144568, 51158629-51158678, 51158724-51158822, 51158846-51158885, 51158901-51158935, 51158951-51158972, 51158981-51158989, 51158996-51158997, 51159014-51159096, 51159102, 51159104-51159106, 51159141-51159148, 51159158-51159163, 51159169, 51159174-51159185, 51159194-51159260, 51159282-51159340, 51159357, 51159360-51159363, 51159368, 51159375-51159376, 51159390-51159394, 51159409-51159463, 51159513-51159516, 51159586-51159649, 51159704, 51159745-51159746, 51159749-51159768, 51159817-51159835, 51159928-51159953, 51159995-51160001, 51160055-51160076, 51160262-51160268, 51160275-51160313, 51160340-51160343, 51160418-51160429, 51160560-51160576, 51160826, 51169155-51169157, 51169169-51169171, 51169175-51169183, 51169193-51169238, 51169246-51169293, 51169312-51169348, 51169379-51169398, 51169423-51169515, 51169523-51169607, 51169634-51169691, 51169708-51169734, 51169737-51169740
517FANCD230.989809782608745441610088266, 10088299, 10088308, 10088340-10088346, 10088402, 10089720-10089735, 10107165-10107171, 10114941-10114947, 10123032, 10138102-10138104
518VHL30.856697819314649264210183542, 10183650-10183694, 10183727-10183749, 10183787-10183792, 10183795-10183811
519WNT7A30.993333333333337105013921264-13921270
520CRTAP30.9809286898839123120633155727-33155729, 33155733, 33155737, 33155834, 33155840-33155847, 33155853, 33155902-33155909
521TMIE30.7167755991285413045946742879-46742893, 46742905-46742944, 46742964-46743036, 46743065, 46750726
522TMIE30.864118895966036447146742978-46743036, 46743065, 46750726, 46751074-46751076
523TREX130.75045045045045277111048507892, 48508025-48508052, 48508062-48508088, 48508134-48508140, 48508158-48508202, 48508236-48508271, 48508317, 48508320, 48508327, 48508330, 48508333, 48508431-48508437, 48508483-48508514, 48508627-48508648, 48508671, 48508675-48508676, 48508792, 48508873-48508901, 48508916-48508949
524COL7A130.89303904923599945883548602587-48602602, 48602605-48602607, 48602919, 48607053, 48607056, 48609952-48609955, 48612558-48612559, 48612796-48612800, 48612811, 48612845-48612869, 48612917-48612919, 48612950, 48613071-48613119, 48613154, 48613166-48613178, 48616376-48616378, 48616645, 48616709, 48617040-48617087, 48617220, 48617464, 48617475-48617486, 48618056, 48618694, 48619011-48619012, 48619033-48619041, 48619168-48619170, 48619173-48619182, 48619356-48619357, 48619362-48619363, 48619368-48619370, 48619937-48619946, 48620066-48620070, 48621013, 48621025, 48621151-48621154, 48621366-48621386, 48621736, 48621772, 48621777, 48621977-48621984, 48622356-48622373, 48622505, 48622508-48622527, 48622548, 48623002-48623014, 48623017, 48623565-48623570, 48623627-48623654, 48623662-48623669, 48623825, 48624101-48624122, 48624423-48624466, 48624625-48624631, 48624706, 48624734-48624766, 48624853-48624873, 48624929-48624936, 48624939-48624940, 48624951, 48625234-48625275, 48625299-48625311, 48625328-48625332, 48625771-48625793, 48626075-48626127, 48626168, 48626172-48626181, 48626200-48626202, 48626208, 48626221, 48626314-48626326, 48626348-48626381, 48626393-48626422, 48626760-48626766, 48626793-48626875, 48627034, 48627061-48627069, 48627072, 48627080-48627082, 48627086, 48627091-48627126, 48627131-48627134, 48627143, 48627657, 48627681, 48627685, 48627715-48627726, 48627737, 48628195, 48628203-48628207, 48629135, 48629621-48629632, 48629808-48629824, 48629894, 48630212, 48630327
525SLC25A2030.92052980132457290648900072-48900076, 48936126-48936129, 48936141-48936201, 48936226-48936227
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550SH3BP240.8971459343026419118572819960-2820008, 2820022-2820084, 2820088-2820105, 2820114-2820117, 2831370-2831397, 2831509-2831512, 2833675-2833682, 2834733-2834738, 2835512-2835514, 2835554-2835561
551HTT40.9727436631668325794293076595-3076603, 3076604-3076747, 3076759-3076764, 3076776-3076780, 3076783-3076785, 3076808, 3213802-3213810, 3234953-3234971, 3234989-3235001, 3237019-3237030, 3240671-3240678, 3241577-3241597, 3241688-3241694
552DOK740.23894389438944115315153465103-3465156, 3465233-3465278, 3475133-3475146, 3475159-3475162, 3475166, 3475192, 3475210-3475234, 3475243, 3475246, 3475252, 3475257-3475261, 3475293-3475296, 3475347-3475348, 3475359-3475361, 3478069-3478127, 3478142-3478269, 3487302-3487352, 3487364-3487385, 3491460-3491471, 3491493-3491523, 3494486-3494931, 3494946-3495018, 3495021-3495028, 3495036-3495187, 3495201-3495209
553DOK740.0389170896785115685913494489-3494931, 3494946-3495018, 3495021-3495028, 3495036-3495079
554MSX140.98135964912281179124861753-4861769
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561MTTP40.9985102420856642685100530005-100530008
562CISD240.9583333333333317408103808506-103808522
563CFI40.9988584474885821752110723115-110723116
564MFSD840.99357739242132101557128859982-128859990, 128859993
565CTSO40.998964803312631966156874969
566GLRB40.98728246318608191494158041708-158041725, 158060048
567GK40.9987966305655821662166199345, 166199701
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570TERT50.27096204766108247833991253843-1253856, 1253893-1253930, 1253935, 1254510-1254542, 1254556, 1254563, 1254581-1254620, 1255415, 1258713-1258773, 1260625, 1260656-1260666, 1260669-1260670, 1260683-1260715, 1264519-1264537, 1264543-1264614, 1264630-1264639, 1264643-1264646, 1264659-1264660, 1264678-1264685, 1264696-1264700, 1266579-1266631, 1266637-1266650, 1268635-1268650, 1268669-1268748, 1271234-1271319, 1272300-1272395, 1278756-1278789, 1278799-1278836, 1278857-1278866, 1278870, 1278893-1278911, 1279406-1279585, 1280273-1280453, 1282544, 1282624-1282629, 1282667-1282698, 1282722-1282730, 1293435-1293445, 1293454, 1293487, 1293520, 1293526-1293528, 1293534, 1293566, 1293569-1293573, 1293576-1293579, 1293585-1293648, 1293670-1293691, 1293708-1293717, 1293743-1293766, 1293772, 1293781-1293815, 1293823-1293846, 1293851-1293857, 1293878-1293989, 1293997-1294001, 1294013, 1294020, 1294038, 1294042-1294055, 1294077-1294513, 1294522-1294781, 1294886-1295104
571SLC6A350.97477187332264718631409163-1409164, 1409918-1409923, 1409927-1409928, 1409933, 1422023-1422052, 1422093-1422098
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573NDUFS650.98463751801600, 1801603, 1801642-1801645
574CCT550.9938499384993810162610250520-10250529
575DNAH550.99884684684685161387513916478, 13916489-13916503
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577NIPBL50.9976232917409420841537007483, 37048646, 37048653-37048665, 37048668-37048672
578OXCT150.998720409468972156341870423, 41870432
579GHR50.999478351591031191742695117
580ITGA250.998025944726457354652285334-52285336, 52285339-52285342
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585RASA150.999681933842241314486670063
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589SLC22A550.97610513739546401674131705787-131705794, 131705876-131705882, 131705936-131705955, 131706053-131706057
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591MYOT50.98663994655979201497137221794-137221806, 137221864, 137223064-137223069
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593TCOF150.98002754820937874356149737342-149737401, 149754724-149754726, 149755089-149755095, 149759242-149759246, 149767599-149767600, 149767605, 149772307-149772315
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598NHP250.993506493506493462177580660-177580661, 177580675
599GRM650.937737281700841642634178408683, 178408686, 178408699-178408700, 178410166-178410167, 178413438-178413478, 178413675-178413702, 178413732-178413754, 178413930-178413948, 178421583, 178421586, 178421668-178421673, 178421726-178421732, 178421865-178421866, 178421879-178421908
600SQSTM150.860166288737721851323179247937-179247951, 179247974-179248141, 179250915, 179250993
601FLT450.2534213098729230554092180038331-180038334, 180039584-180039588, 180039591-180039596, 180041076-180041077, 180041109-180041128, 180043377, 180043380-180043402, 180043422-180043439, 180043471-180043489, 180043965, 180043968, 180043972-180043973, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048787, 180048804-180048904, 180049731-180049839, 180050935-180050954, 180050975-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076490, 180076503-180076545
602FOXC160.4109506618531997916621610697-1610713, 1610737-1610743, 1610757-1610825, 1610835-1610848, 1610855-1610902, 1610964-1610970, 1611002-1611020, 1611032-1611051, 1611086-1611168, 1611180-1611223, 1611256-1611321, 1611327-1611379, 1611415-1611591, 1611626-1611632, 1611641-1611756, 1611769-1611779, 1611803-1611805, 1611820, 1611832-1611865, 1611871-1611892, 1611911-1611946, 1611987-1612001, 1612012-1612039, 1612048-1612051, 1612080-1612082, 1612138-1612190, 1612202-1612223
603TUBB2B60.992526158445441013383225122, 3225438, 3225444-3225445, 3227730-3227735
604ATXN160.9787581699346452244816327862-16327911, 16327915, 16327924
605ALDH5A160.93928354584092100164724495225-24495255, 24495265-24495282, 24495286-24495304, 24495386-24495387, 24495390-24495405, 24495509-24495521, 24512080
606HLA-H60.445075029855764-29855771, 29855789-29855791, 29855796, 29855800, 29855803-29855911, 29855918-29855994, 29856252-29856323, 29856326-29856331, 29856347, 29856353, 29856368, 29856389, 29856397, 29856402-29856445, 29856456-29856498, 29856507-29856516, 29856521-29856543, 29856546, 29856550, 29856559, 29856565, 29856584-29856586, 29856596, 29856611, 29856636-29856658, 29856679, 29856686, 29856693, 29856743-29856755
607NEU160.9903846153846212124831829777, 31829833-31829843
608TNXB60.9087610160705176192931976391, 31976400, 31976896-31976929, 31977087-31977122, 31977386-31977394, 31977498-31977502, 31977516, 31977574-31977586, 31977622, 31977638, 31977994-31978001, 31978046, 31978498-31978535, 31979380-31979381, 31979420, 31979460-31979482, 31980086
609CYP21A260.89448924731183157148832006200-32006201, 32006214-32006224, 32006317, 32006534-32006573, 32006886, 32006956-32006972, 32007407, 32008445-32008454, 32008667-32008683, 32008712-32008733, 32008739, 32008745, 32008751-32008766, 32008771, 32008775, 32008893-32008907
610TNXB60.971168198601623671272932009126-32009149, 32009648-32009664, 32009822-32009851, 32010123-32010129, 32010232-32010236, 32010250-32010254, 32010313-32010320, 32010348-32010376, 32010598, 32010728-32010735, 32010780, 32011080, 32011086, 32011090, 32011232-32011269, 32011826-32011842, 32012231-32012277, 32012312-32012336, 32012377, 32012380, 32012486, 32014055-32014058, 32023873-32023880, 32025903-32025909, 32029283-32029287, 32029969, 32063984-32063985, 32064142-32064150, 32064217-32064218, 32064222-32064225, 32064298-32064338, 32064568-32064572, 32064715-32064716, 32064724, 32064817-32064824
611HLA-DQA160.971354166666672276832609150, 32610387-32610406, 32610445
612HLA-DQB160.7010178117048323578632629124-32629173, 32629224-32629234, 32632575-32632721, 32632781-32632783, 32632795, 32632815-32632836, 32634319
613COL11A260.9881020917290362521133139260-33139286, 33139328, 33139560, 33140101-33140110, 33140124-33140145, 33141487
614SYNGAP160.9818948412698473403233388042-33388108, 33393634-33393639
615FANCE60.9931719428926111161135420405-35420415
616TULP160.9803560466543932162935478689-35478690, 35479957-35479977, 35480590-35480598
617MOCS160.79905808477237384191139883882, 39893422-39893427, 39893433-39893522, 39893535, 39893554-39893589, 39895068-39895317
618GUCA1B60.98839137645108760342152576-42152582
619PRPH260.9740634005763727104142672147-42672173
620RUNX260.9929757343550411156645390495-45390505
621MUT60.999556147359081225349409576
622EYS60.999788023317442943565016974-65016975
623OSTM160.93333333333333671005108395694-108395705, 108395727-108395755, 108395786-108395799, 108395810, 108395845-108395855
624FIG460.9977973568281962724110106173-110106178
625COL10A160.9975526186979952043116442332-116442336
626GJA160.9939077458659771149121768922-121768928
627ENPP160.99424046076314162778132129176, 132129217-132129221, 132129348-132129351, 132129399-132129401, 132203556-132203558
628PEX760.9742798353909525972137143896-137143920
629EPM2A60.996987951807233996146056502-146056504
630SYNE160.999431689020231526394152623097-152623100, 152690239-152690245, 152730729-152730731, 152751645
631PARK260.9992846924177411398161781122
632TBP60.890196078431371121020170871010-170871117, 170871125-170871128
633LFNG70.3149122807017578111402559496-2559927, 2564337-2564376, 2564883-2564909, 2564929-2564952, 2565053-2565119, 2565167-2565187, 2565192-2565197, 2565319-2565364, 2565374-2565388, 2565400, 2565878-2565919, 2566003-2566018, 2566028, 2566036-2566043, 2566487-2566504, 2566529-2566540, 2566804-2566806, 2566812, 2566846
634PMS270.983391270760914325896013046-6013052, 6013150-6013156, 6026873, 6026985-6027005, 6029463-6029465, 6048634-6048637
635TWIST170.4729064039408932160919156445-19156449, 19156556-19156585, 19156613-19156649, 19156665-19156669, 19156674-19156698, 19156713, 19156718, 19156723-19156745, 19156751-19156944
636HOXA1370.67352185089974381116727238913-27238920, 27239046, 27239078-27239118, 27239193, 27239206-27239216, 27239245-27239286, 27239295-27239416, 27239437-27239485, 27239515-27239620
637GLI370.9913556820577741474342005127-42005130, 42005384-42005391, 42005541-42005552, 42005570-42005579, 42005583-42005589
638PGAM270.99212598425197676244104439, 44104477, 44104506, 44104509, 44104592, 44104843
639GCK70.80870806566738268140144184799-44184844, 44185178-44185226, 44185329, 44186073-44186080, 44186094-44186133, 44191915-44191934, 44192018-44192024, 44192900-44192936, 44192955-44192990, 44193018-44193036, 44193058-44193062
640CCM270.75730337078652324133545039947-45039950, 45039959-45039962, 45077994-45077996, 45112379, 45113061, 45113065-45113086, 45113142-45113170, 45113869-45113936, 45113960-45114007, 45115404, 45115409-45115427, 45115430-45115433, 45115439-45115465, 45115519, 45115522-45115533, 45115536-45115565, 45115573, 45115599-45115606, 45115616-45115656
641EGFR70.9862372694742650363355086971, 55086995-55087043
642GUSB70.956032719836486195665439545, 65439548-65439562, 65439625-65439626, 65439660-65439686, 65440025, 65440050-65440052, 65441003-65441009, 65441044, 65444446-65444466, 65445305, 65447000, 65447094-65447099
643ASL70.48458781362007719139565541076, 65546819, 65546920-65546939, 65547375-65547410, 65547426-65547438, 65547881-65547898, 65548064-65548088, 65548106, 65548114, 65548117-65548118, 65548147-65548161, 65551572, 65551649, 65551731-65551752, 65551800-65551808, 65552321-65552350, 65552738-65552770, 65553812-65553863, 65553880-65553882, 65553888-65553906, 65554078-65554159, 65554263-65554282, 65554287-65554288, 65554317-65554322, 65554599-65554624, 65554631-65554659, 65554672-65554682, 65556993-65557023, 65557037-65557058, 65557544-65557553, 65557561-65557587, 65557621-65557649, 65557755-65557813, 65557832-65557868, 65557875-65557899
644KCTD770.893103448275869387066094052-66094053, 66094067-66094079, 66094086-66094087, 66094098-66094116, 66094139-66094195
645SBDS70.974767596281541975366456147-66456164, 66456274
646NCF170.973333333333332282572639980-72639992, 72643631, 72643645, 72645879-72645881, 72648745-72648748
647ELN70.92505747126437163217573442518-73442592, 73456976, 73457008, 73457470-73457473, 73466082-73466091, 73466134, 73466154, 73466254-73466313, 73471994, 73474247, 73474706, 73474781-73474782, 73474785, 73474788, 73477490-73477492
648NCF170.86104006820119163117374193639-74193671, 74193714, 74193718, 74197308-74197315, 74197385-74197404, 74199562-74199564, 74202425-74202428, 74202431, 74202903-74202904, 74202953, 74202960-74202969, 74202989-74203029, 74203045-74203046, 74203383-74203411, 74203424-74203430
649POR70.281938325991191467204375608769-75608779, 75608810-75608816, 75608869-75608872, 75609657-75609658, 75609670-75609716, 75609749-75609780, 75609787-75609790, 75610369-75610384, 75610387, 75610401-75610430, 75610436-75610490, 75610835-75610861, 75610868-75610917, 75611544-75611571, 75611628-75611640, 75612838-75612839, 75612864-75612897, 75612912, 75612918-75612954, 75613056-75613057, 75613064-75613165, 75613172-75613174, 75614095-75614276, 75614376-75614525, 75614897-75615074, 75615084-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615786, 75615796-75615799
650HSPB170.919093851132695061875932056-75932075, 75932096, 75932169, 75932267-75932274, 75932277, 75932284-75932302
651AKAP970.9994029341521771172491625045-91625049, 91630295-91630296
652TFR270.99002493765586242406100228630, 100238608-100238622, 100238642, 100238651, 100238654, 100238704-100238708
653CFTR70.974566734188611134443117188713-117188753, 117188760-117188800, 117188847-117188877
654IMPDH170.96888888888889561800128035299-128035303, 128045847, 128045881, 128049815-128049821, 128049852, 128049857-128049885, 128049930-128049932, 128049947-128049955
655FLNC70.920885302029846478178128470692-128470767, 128470784-128470846, 128470873, 128470878-128470890, 128470918, 128470927-128470928, 128470933-128470938, 128470949-128470986, 128470999-128471038, 128475380-128475388, 128475555-128475583, 128477250, 128477253, 128477262-128477311, 128477502-128477522, 128477562-128477584, 128477694, 128477745, 128477781-128477783, 128477791, 128478332-128478339, 128478753-128478768, 128478780, 128478785, 128478808-128478818, 128480602, 128480662, 128480709-128480715, 128481233, 128481256, 128481317-128481345, 128481517, 128481522-128481524, 128481581, 128482313-128482319, 128482350-128482396, 128482719-128482723, 128482848-128482888, 128483331, 128483471, 128483538, 128483624, 128485052, 128485084, 128489242, 128491614, 128491617-128491619, 128492756-128492758, 128492765, 128492889, 128493069, 128494091, 128494178, 128494199-128494203, 128494250-128494270, 128494551, 128494584-128494588, 128494958, 128496642-128496643, 128498062-128498091, 128498158
656ATP6V0A470.9976218787158162523138437399-138437404
657BRAF70.99304650152108162301140624404-140624409, 140624413-140624420, 140624427, 140624489
658CLCN170.9922480620155232967143039022-143039029, 143042651, 143042688-143042701
659KCNH270.934482758620692283480150644723-150644727, 150655201-150655231, 150655491-150655522, 150655552-150655556, 150671854-150671894, 150671900-150671901, 150671925-150671937, 150671940, 150671954, 150671977-150671995, 150672004-150672005, 150674926-150675001
660PRKAG270.97076023391813501710151372547-151372577, 151372589-151372607
661SHH70.406767458603318241389155595594-155595658, 155595668-155595674, 155595680-155595729, 155595746-155595894, 155595915-155595924, 155595937-155595969, 155595978-155596060, 155596069-155596072, 155596075-155596158, 155596181-155596388, 155596419-155596420, 155599001-155599037, 155599061-155599078, 155599099-155599127, 155599226-155599234, 155599241-155599245, 155604773-155604787, 155604801-155604816
662MNX170.668325041459374001206156798233, 156798237, 156798241-156798248, 156798413, 156798425-156798426, 156799264, 156799267-156799270, 156802453, 156802458-156802460, 156802467, 156802492-156802493, 156802508, 156802511, 156802519-156802525, 156802532-156802533, 156802536, 156802551-156802554, 156802593-156802595, 156802598-156802604, 156802615-156802617, 156802640-156802827, 156802837, 156802840-156802843, 156802850-156802885, 156802895-156802912, 156802929-156802952, 156802965-156803039
663GATA480.88487584650113153132911565868-11565874, 11565895-11565900, 11565913, 11565916-11565923, 11566075-11566089, 11566133-11566158, 11566172-11566201, 11566221-11566240, 11566248-11566287
664ASAH180.9907407407407411118817941513-17941523
665SFTPC80.996632996633259422021485-22021486
666NEFL80.9840686274509826163224813406-24813423, 24813696-24813703
667CHRNA280.9861635220125822159027320603, 27320611, 27320622-27320625, 27320770, 27321372-27321378, 27327418-27327425
668FGFR180.99959399106781246338314929
669ADAM980.996747967479678246038854596-38854602, 38854637
670ANK180.9919213206884446569441554264-41554270, 41559630-41559644, 41571707, 41575659, 41575662, 41575680, 41583412, 41583415, 41583422-41583436, 41583448, 41583452-41583453
671THAP180.975077881619941664242693175-42693190
672HGSNAT80.93658280922432121190842995640-42995757, 43025778-43025780
673CHD780.99955525906164899461777692, 61777852, 61778103-61778104
674TMEM7080.99233716475096678374888670-74888675
675CA280.99872286079183178386376331
676CNGB380.998765432098773243087656900, 87656903-87656904
677VPS13B80.99974987493747311994100513955, 100523457, 100836137
678KIAA019680.9991379310344833480126091151, 126095369-126095370
679KCNQ380.97938144329897542619133492568-133492605, 133492653-133492662, 133492750, 133492754, 133492757, 133492777-133492779
680TG80.9998796195979318307133920542
681NDRG180.9991561181434611185134251214
682SLURP180.15705128205128263312143822561-143822622, 143822630-143822683, 143822686-143822688, 143822692, 143823221-143823251, 143823271-143823340, 143823746, 143823763-143823803
683CYP11B180.9980158730158731512143956378-143956380
684CYP11B280.9980158730158731512143993951-143993953
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686GPT80.1415157612340712801491145729688-145729776, 145729783-145729785, 145729788-145729804, 145729806-145729810, 145729819-145729849, 145729992-145729995, 145730005, 145730026-145730029, 145730032-145730069, 145730213-145730217, 145730241, 145730244-145730246, 145730251, 145730381-145730451, 145730461, 145730470-145730514, 145730629-145730872, 145731231-145731310, 145731378-145731514, 145731615, 145731622-145731789, 145731884-145732039, 145732117-145732226, 145732293-145732351, 145732378-145732383
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688DOCK890.9985714285714396300396800-396807, 396883
689VLDLR90.979405034324945426222622190-2622231, 2622238-2622244, 2652940-2652944
690GLIS390.99856784819191427934117935-4117938
691GLDC90.994449885732941730636645375-6645384, 6645493-6645499
692B4GALT190.994152046783637119733167140-33167146
693GALT90.992982456140358114034646744-34646751
694VCP90.9954564229657211242135063014, 35063019, 35072334-35072341, 35072350
695FANCG90.998929909042272186935075993, 35076003
696GRHPR90.99392097264438698737424862, 37424871-37424875
697VPS13A90.999370078740166952579843175-79843180
698AUH90.997058823529413102094124114-94124116
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700FBP190.999016715830881101797401528
701PTCH190.9889502762430948434498270553-98270572, 98270593-98270595, 98270600-98270602, 98270607, 98270623-98270643
702FOXE190.71746880570413171122100616238-100616275, 100616293-100616333, 100616342-100616349, 100616399-100616405, 100616527-100616565, 100616624-100616631, 100616675-100616728, 100616731-100616749, 100616768-100616805, 100616843-100616849, 100616882-100616884, 100616889-100616891, 100616896, 100617021, 100617093-100617142
703TGFBR190.98677248677249201512101867536-101867555
704MUSK90.9980842911877452610113547935-113547939
705DFNB3190.97173274596182772724117169008, 117240846, 117240849-117240854, 117266843-117266868, 117266870-117266871, 117266932, 117266937, 117266940, 117267017-117267027, 117267045-117267071
706GSN90.9953171562367112349124074737-124074739, 124088897-124088901, 124089622-124089623, 124089722
707NR5A190.821067821067822481386127245055-127245062, 127245156-127245181, 127255309-127255334, 127255402-127255408, 127255416, 127262437-127262472, 127262490, 127262506-127262508, 127262535-127262561, 127262767-127262769, 127262803-127262804, 127262823, 127262862-127262885, 127262891, 127265370, 127265399-127265421, 127265454-127265493, 127265584-127265599, 127265607, 127265614
708LMX1B90.98123324396783211119129376798-129376801, 129376824-129376832, 129376842-129376846, 129376851, 129376859-129376860
709ENG90.99494183105716101977130579478, 130616593-130616601
710GLE190.9995231282784912097131267169
711DOLK90.96474953617811571617131708565, 131708900-131708901, 131709009-131709021, 131709132, 131709234-131709236, 131709401, 131709408, 131709495-131709497, 131709549-131709554, 131709557-131709582
712TOR1A90.9359359359359464999132586197-132586198, 132586207-132586245, 132586272-132586277, 132586319-132586335
713ASS190.9983857949959621239133333809, 133333812
714POMT190.98668503213958292178134394336, 134394818-134394840, 134395467-134395469, 134397452, 134398382
715SETX90.99813293502614158034135139874-135139888
716CEL90.735799207397626002271135937417-135937424, 135937437, 135937440, 135937444-135937452, 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946454-135946477, 135946505-135946547, 135946591-135947026, 135947037-135947074, 135947128
717SURF190.8914728682170598903136220700-136220716, 136221774-136221780, 136223124-136223142, 136223157-136223175, 136223276-136223310, 136223329
718ADAMTS1390.777077497665739554284136290720, 136291407, 136291461, 136293754-136293891, 136295059-136295201, 136295210-136295221, 136297737-136297752, 136297798, 136298542-136298565, 136298578, 136298604-136298606, 136298616, 136298624, 136298761, 136298808-136298815, 136301949-136301959, 136302062-136302075, 136302900-136302903, 136302906, 136302915-136302962, 136303400, 136303434-136303461, 136303473-136303475, 136303479-136303486, 136305540-136305542, 136305549, 136305615, 136307583-136307584, 136307587, 136307591, 136307758, 136307764, 136307768, 136307827-136307849, 136307858, 136308521-136308526, 136308542, 136308552-136308557, 136308628-136308651, 136308681-136308682, 136310094, 136310147, 136310161, 136310834-136310864, 136310877-136310878, 136310886-136310906, 136313732, 136313822, 136313827, 136313842, 136313848, 136314929, 136314933-136314935, 136314941, 136314971, 136315016-136315022, 136315068, 136319585-136319600, 136319603-136319607, 136319683-136319706, 136320487-136320501, 136320504, 136320586, 136320601-136320615, 136320621-136320622, 136320647-136320658, 136321235, 136321242, 136321253, 136321256-136321280, 136321318-136321324, 136321758-136321772, 136321783, 136321803-136321823, 136323062-136323064, 136323092-136323174, 136324217-136324301
719DBH90.675296655879186021854136501519-136501520, 136501564, 136501567-136501580, 136501606, 136501662, 136501731-136501737, 136501745, 136501748, 136501764, 136501804, 136504988, 136505007-136505024, 136505028-136505029, 136505035, 136507433, 136508535, 136508662-136508665, 136508678, 136509385-136509406, 136513000-136513021, 136513099-136513105, 136516760-136516834, 136516840-136516847, 136516876-136516899, 136517368-136517370, 136517394-136517397, 136518062-136518081, 136518092, 136518098, 136518103, 136521647-136521703, 136521714-136521772, 136522192-136522287, 136522294-136522351, 136523451-136523484, 136523508, 136523520-136523569
720SARDH90.75444323540086772757136529011-136529030, 136529054-136529067, 136529081-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550325, 136550349-136550354, 136555509-136555528, 136555563, 136555566-136555572, 136555588-136555590, 136555598-136555606, 136555630, 136559380-136559391, 136559439, 136559474-136559493, 136561421, 136561424-136561427, 136561476-136561482, 136568041-136568045, 136568118, 136568122, 136573429-136573438, 136573503, 136599268-136599275
721COL5A190.786296900489411795517137534034-137534142, 137582758-137582770, 137582789, 137582792-137582831, 137582851-137582925, 137591755-137591802, 137591829-137591856, 137591866-137591907, 137591925-137591952, 137591967-137591968, 137593017-137593020, 137593029, 137593048-137593063, 137593067-137593079, 137593092-137593094, 137593108-137593110, 137593126-137593127, 137593129-137593179, 137623495-137623497, 137642397-137642416, 137642654, 137642658, 137642693-137642728, 137644446-137644491, 137645700-137645742, 137646135, 137646149, 137650124-137650127, 137653783-137653809, 137655539-137655546, 137657574, 137660256-137660300, 137664643-137664644, 137664663, 137664668-137664669, 137671961, 137674552, 137676855-137676858, 137676864-137676868, 137676883-137676907, 137676918-137676942, 137677850-137677868, 137677878-137677879, 137677890-137677894, 137693816-137693832, 137694775-137694800, 137694830-137694837, 137696839-137696855, 137696865-137696904, 137697045, 137697048, 137697052-137697055, 137698140, 137703369-137703373, 137703380-137703382, 137703406-137703442, 137704522, 137704525, 137705829-137705846, 137705856-137705882, 137706649-137706684, 137707781-137707789, 137707792, 137708923-137708925, 137709641-137709643, 137709646-137709652, 137710502-137710505, 137710567-137710603, 137710701, 137710741-137710747, 137710846-137710867, 137713963-137713968, 137713974-137713975, 137726879-137726898, 137726910-137726912, 137726979-137726981
722LHX390.634408602150544421209139089179-139089217, 139089228-139089230, 139089278-139089285, 139089307-139089315, 139089321-139089322, 139089327-139089348, 139089392-139089410, 139089463-139089466, 139089518, 139089564, 139089568, 139090498-139090500, 139090546-139090573, 139090589-139090616, 139090641, 139090648-139090656, 139090759-139090808, 139090815-139090853, 139090861-139090905, 139091544-139091545, 139091655-139091682, 139091694-139091706, 139094799-139094885
723INPP5E90.3054263565891513441935139324816, 139324863-139324865, 139325454-139325470, 139325480, 139325488, 139325491-139325510, 139325542-139325544, 139325558, 139326276-139326423, 139326931-139326949, 139326955-139327038, 139327408, 139327418-139327439, 139327486-139327492, 139327495, 139327502-139327513, 139327521, 139327607-139327611, 139327628-139327631, 139327661-139327731, 139328497-139328573, 139328581-139328586, 139329213-139329219, 139329245-139329315, 139333060-139333109, 139333119-139333229, 139333238, 139333243-139333270, 139333287-139333362, 139333368-139333557, 139333567-139333871
724NOTCH190.04968701095461772877668139390523-139390749, 139390758-139390766, 139390776, 139390780, 139390792-139390794, 139390804-139391153, 139391161-139391678, 139391684-139392010, 139393351-139393352, 139393361-139393380, 139393385-139393386, 139393391-139393401, 139393410-139393412, 139393564-139393681, 139393694, 139393704-139393711, 139395004-139395053, 139395057, 139395076-139395299, 139396200-139396216, 139396231-139396365, 139396453-139396473, 139396481-139396540, 139396724-139396940, 139397634-139397749, 139399125-139399233, 139399247-139399556, 139399762-139400333, 139400979-139401021, 139401034, 139401037-139401043, 139401063-139401091, 139401168-139401249, 139401252, 139401255-139401263, 139401272-139401425, 139401759-139401793, 139401795-139401808, 139401811-139401813, 139401842-139401856, 139401860, 139401885-139401889, 139402407-139402566, 139402576-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404269, 139404290-139404327, 139404343-139404413, 139405105-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412596, 139412608-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
725AGPAT290.28912783751493595837139568204-139568215, 139568227-139568243, 139568260-139568281, 139568301-139568379, 139569200-139569205, 139569209-139569217, 139569220-139569224, 139569258-139569259, 139571037-139571043, 139571052, 139571069-139571115, 139571413-139571482, 139571490-139571492, 139571514-139571550, 139571575-139571583, 139571586-139571587, 139571875-139571958, 139571966, 139581628-139581809
726SLC34A390.2677777777777813181800140126176, 140126197, 140126532-140126534, 140126540-140126541, 140126585-140126603, 140127027-140127054, 140127066-140127097, 140127136-140127154, 140127263-140127290, 140127304-140127318, 140127329-140127331, 140127340-140127349, 140127354-140127367, 140127456-140127469, 140127477-140127518, 140127538-140127563, 140127661-140127688, 140127699-140127749, 140127792-140127829, 140127848-140127856, 140128085-140128174, 140128315-140128387, 140128561-140128664, 140128673-140128728, 140128868-140128963, 140129066-140129068, 140129072, 140129088-140129089, 140129095, 140129124-140129183, 140130404-140130690, 140130707-140130868
727EHMT190.806004618937647563897140513481-140513501, 140605419-140605420, 140605428, 140605445-140605482, 140611078-140611634, 140622952-140622970, 140638507, 140638510, 140638527, 140669686, 140671137-140671145, 140671148, 140671155, 140671157-140671161, 140671164, 140671167, 140671170, 140671172, 140671234-140671239, 140671251-140671255, 140672492-140672507, 140674087-140674131, 140729303-140729304, 140729309-140729310, 140729328, 140729336-140729341, 140729382-140729391, 140729402
728SHOXX0.56200227531286385879591633-591867, 591877-591909, 595382-595389, 595392-595395, 595427-595509, 595540-595561
729CSF2RAX0.5233716475095862213051401597-1401598, 1401646-1401672, 1404671-1404712, 1404716, 1404765-1404804, 1407686-1407697, 1409230-1409246, 1409320, 1409326-1409332, 1409345, 1409392, 1409396-1409402, 1413221-1413354, 1414320-1414349, 1419395-1419452, 1419458-1419519, 1422154-1422255, 1422832-1422875, 1422880-1422910, 1424404-1424406
730ARSEX0.99887005649718217702852951, 2852955
731SMSX0.9627611262488641110121958943-21958976, 21958985-21958991
732ARXX0.94079336885731100168925031425-25031427, 25031521-25031547, 25031579-25031592, 25031653-25031689, 25031774-25031779, 25031806, 25031809-25031812, 25031818-25031825
733RPGRX0.83839259901706559345938145123-38145132, 38145181-38145213, 38145278-38145353, 38145362-38145415, 38145429-38145626, 38145637-38145747, 38145797-38145816, 38145861-38145871, 38145894-38145911, 38145959-38145986
734NYXX0.93291839557497144641332803, 41332892-41332896, 41333048-41333054, 41333094-41333108, 41333327-41333374, 41333512-41333514, 41333546-41333563
735MAOAX0.990530303030315158443571980-43571994
736UBA1X0.9962228517469312317747062104-47062115
737SMC1AX0.998649378714215370253432011-53432015
738ARX0.9887803112558831276366765155-66765179, 66765182, 66765185, 66765188, 66766357-66766359
739MED12X0.999540863177233653470361098-70361100
740TAF1X0.997360084477315568270586203-70586204, 70586216-70586228
741PCDH19X0.99455535390218330699663560-99663577
742ZIC3X0.98860398860399161404136648985-136648987, 136651138-136651143, 136651218-136651224
743SOX3X0.9985085756897821341139586145-139586146
744FAM58AX0.9659863945578225735152864475-152864480, 152864483-152864496, 152864510, 152864516-152864519
745SLC6A8X0.833857442348013171908152954030-152954198, 152954241-152954243, 152954256-152954291, 152958917-152958939, 152959470-152959472, 152959585-152959601, 152959840-152959857, 152960252-152960269, 152960308-152960312, 152960529-152960553
746ABCD1X0.885612153708672562238152990740-152990754, 152990763, 152990788-152990804, 152990886-152990895, 152990902, 152990905, 152990964-152990972, 152991071-152991081, 152991154-152991181, 152991217-152991218, 152991281-152991287, 152991315-152991333, 152991417-152991444, 152991477-152991484, 152991515, 152991525, 152991528-152991533, 152991537, 153001685-153001692, 153001867-153001868, 153001959-153001967, 153006034-153006035, 153006134-153006144, 153008675-153008678, 153008756-153008791, 153008944-153008946, 153008981-153008987, 153009085-153009092
747L1CAMX0.99019607843137373774153133319-153133320, 153133772-153133785, 153135272-153135282, 153135348, 153136524-153136532
748AVPR2X0.98924731182796121116153171699-153171710
749OPN1MWX0.98264840182648191095153455583-153455601
750OPN1MWX0.98264840182648191095153492701-153492719
751FLNAX0.95631923464253477944153577798, 153577818, 153577823-153577827, 153580628-153580658, 153580661, 153581418-153581423, 153581472-153581475, 153581735-153581742, 153581820-153581825, 153583377-153583387, 153586579-153586588, 153586618-153586625, 153587387-153587390, 153587461-153587468, 153587685-153587699, 153587729-153587735, 153588102, 153588105-153588116, 153588166-153588171, 153588240-153588243, 153588377-153588381, 153588386, 153588390-153588392, 153588396-153588433, 153588579-153588591, 153588612, 153588624-153588626, 153588630, 153588639, 153588827-153588830, 153588889-153588890, 153588894, 153588902-153588914, 153589707-153589714, 153589825-153589829, 153589832-153589833, 153590411-153590412, 153591032-153591035, 153591039, 153593531-153593539, 153594483-153594486, 153595100-153595102, 153596020-153596027, 153596224-153596229, 153596274-153596276, 153599284-153599286, 153599397-153599416, 153599529-153599535, 153599538, 153599563-153599581, 153599591-153599597
752EMDX0.9150326797385665765153607902-153607923, 153608056-153608087, 153608113-153608115, 153608121, 153608128-153608134
753TAZX0.9188846641318164789153640181-153640188, 153640239-153640256, 153640278-153640289, 153640508-153640532, 153641862
754GDI1X0.96056547619048531344153665601, 153667426-153667432, 153668352-153668356, 153668450-153668454, 153668486, 153669466-153669477, 153669978-153669994, 153670769-153670773
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2FANCG-R513Qhet unknown0.007Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.048 (benign), Testable gene in GeneTests with associated GeneReview
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CFH-V62Ihomozygous0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ARMS2-A69Shomozygous0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y3462Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5FCGR2B-I232Thet unknown0.133Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5LRP5-A1330Vhet unknown0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5PRKCH-V374Ihet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.125ATP6V0A4-M580Thet unknown0.098Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.125ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TXNDC3-Q76Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
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)
1MS4A14-P676Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLC22A1-R61Chet unknown0.057Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NPHS1-R408Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NPHS1-S220Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PPARG-P12Ahomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1RYR1-Q3756Ehet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-Q845Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-Q843Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-M1210Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-E24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1KIAA1671-K439RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ATRX-P521AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-H492Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSPA4L-L211Shomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HSPA4L-I601Thomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CEP290-K838Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CEP290-D664Ghet unknown0.009Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70QLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70QLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-RHGAGSGQSLSH2761QQGSGSGQSPSRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S1515Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
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
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1EPHX1-Y113Hhomozygous0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1GJB4-W128*het unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNE-DGPGET223AGPGEMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CHRNE-E204Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFN5-R655Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLFN5-A797Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO19-N176Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPAT2-R637Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MRM1-C120Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5SCN4A-R1739Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF2B-D129Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF2B-P417Shet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-R437Ghet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-G468Ehet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOST-V10Ihet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTN-I24325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R13204Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7050Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T5015Shet 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
0.5POLG-E1143Ghet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
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
0.5MERTK-V870Ihet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNOT1-R299Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5NOB1-R231Qhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-R4127Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-P1151Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-S2026Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-S1219Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PKD1L2-P1065Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q999Hhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-R998Chomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-I506Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-P1315Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOA-F15Yhet unknown0.036Unknown
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)
0.5CFC1-W78Rhomozygous0.966Unknown
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
0.5NR_027336-P160LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahomozygous0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-V62Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC14A2-I132Vhomozygous0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC14A2-A880Thomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC14A2-R896Hhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX5-VL693MRhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-VL693MRhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EHD2-P48Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GCKR-L446Phomozygous0.679Unknown
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
0.5ZNF224-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
0.5CEACAM16-L55Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK054965-S233Yhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK054965-F214Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5AK054965-K209*het unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-I38Mhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ZIM3-K438*het unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZIM3-I379Vhomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5ZIM3-N157Dhomozygous0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZIM3-L69Mhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5ZIM3-E28Khet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.275 (possibly damaging)
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5NT5C1B-R187Qhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NT5C1B-S176*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CACNG6-C252Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CEACAM7-Y236Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CEACAM7-F120Ihomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CEACAM7-N116Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.423 (possibly damaging)
0.5ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-R787Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ADAMTSL3-N1516Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC1-M659Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ZNF559-D18Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5RNASEH2A-L202Shet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-D205Ehet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ALK-D1529Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VIT-Y234*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM187B-W231*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM187B-V216Ihet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM187B-W188*het unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FAM187B-C160Rhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLF1-M39Lhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF792-N425Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLH3-V971Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-A1435Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-L280Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-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-P1975Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), 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
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SMPD1-G508Rhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-R1686Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTMR2-K3Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPC6-P15Shet unknown0.061Unknown
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
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5TCP11L1-R508Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.835 (possibly damaging)
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)
0.5ROM1-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
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-A397Vhomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM54-L110Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5COL9A2-L335Vhet unknown0.098Unknown
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
0.5FCN3-L117Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF3-Q1093Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF3-V920Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5IGSF3-R463Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
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
0.5NVL-V404Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5NVL-G7Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GNPAT-D519Ghomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), 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
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PINK1-N521Thomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2652Dhet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1891Qhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G935Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CRP-T59Mhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DARS2-G338Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5TADA1-R198Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM29-Y544Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.977 (probably damaging)
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-P4733Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5EPB41-V214Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEUROD1-T45Ahomozygous0.672Unknown
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
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
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-R561Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PAX9-A240Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SPATA5L1-R65Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5SPATA5L1-N592Dhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5AVEN-E243Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5COL4A2-R517Khet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A2-P718Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5COL4A2-E1123Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DIP2B-R484Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MDM1-R489Hhet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MDM1-V134Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5MDM1-T103Ihomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5MLL2-P2210Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-P813Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhet unknown0.924Unknown
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
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLECL1-H7Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.944 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5TRPV4-P19Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPD-V340Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RB1-K577KQSKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RB1-R656Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FARP1-R902Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IRS2-G1057Dhomozygous0.233Unknown
protective
Low clinical importance,
uncertain
a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5GJB2-E114Ghet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB2-V27Ihet unknown0.003Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.981 (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
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-V12Mhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-K508Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.784 (possibly damaging)
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-G394Rhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging)
0.5KLHL38-R346Khet unknown0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhet unknown0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5MLL3-R973Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MLL3-N729Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-M689Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLL3-L687Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MLL3-L291Fhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
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-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (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-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR2-R753Qhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZCWPW1-T153Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A43-M275Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SLCO6A1-T654Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
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-E3471Khomozygous0.758Unknown
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
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5EPO-D70Nhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAT4-Q453Lhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FAT4-A807Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.799 (possibly damaging)
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-G3524Dhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-A4886Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PXDNL-V1327Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PXDNL-C1258*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PXDNL-M981Vhet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-A807Ghet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR3-K233Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR3-L243Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINI1-A280Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIT-M541Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCM1-N159Shet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-N455Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5PCM1-M597Vhet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-V253Ihomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SH2D4A-E209Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SH2D4A-E216Ghet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5SH2D4A-G263Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2D4A-S275Nhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PHAX-R82Chet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FBN2-H1381Nhet unknownUnknown
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-I243Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1574Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TREML2-T129Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.350Unknown
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-N2641Shomozygous0.529Unknown
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-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T217Ihomozygous0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-R8117Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-T149Shet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSE-T25Ihomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DSE-P34Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5AIM1-Q293Phomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5CAPN11-L142Phet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN11-V266Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
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-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF2H4-R337Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB7-V389Lhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB7-A501Thet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCDHB7-S568Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCDHB7-PL575LVhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UPP1-T228Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5TNS3-I1132Fhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5BBS9-A455Thomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5ZNF354C-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)
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TF-G277Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TF-I448Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TF-P589Shet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5POMT1-V305Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SON-T694Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SON-S1202Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SON-R1575Chet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SON-R2416Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5SLC5A3-T50Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC5A3-V370Mhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC5A3-Q566Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-T275Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CELSR1-C1126Rhet unknown0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-S664Whet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.5CELSR1-EPI562AHVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELSR1-L556Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CELSR1-P220Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELSR1-P220Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALG12-I393Vhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MCHR1-D28Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5MCHR1-N32Dhomozygous0.656Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAB1-T446Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A1-N51Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRTAP19-3-G54Shifthet unknownUnknown
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-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-G66Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.5UBA1-R447Hhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P1251Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5E2F1-G200Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.353Unknown
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-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBH-A211Thet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL18A1-A180Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-P1519Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SHARPIN-R365Hhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DCBLD2-I144Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GBE1-Y469Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TKT-R246Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TKT-D200Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF123-R387Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PDCD1LG2-E11Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDCD1LG2-F229Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZC3H3-P857Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZC3H3-Q352Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZC3H3-QLSQ116RLRKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC21A-A988Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375RPGRIP1-P585Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A1-R357Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CLCNKB-V668Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO15A-F2692Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-R80Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.375ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-R249Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PTF1A-AP106GAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
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
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSPG2-S4331Nhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-C4108Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-H3256Yhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NACC2-L312Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NACC2-ESR306AGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-R694Whet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
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
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-D36Ghet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25PTCHD2-G182Shomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PTCHD2-A650Thomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTCHD2-H1269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001080826-G1222Shet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001080826-I112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25GATA4-S377Ghet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TIRAP-S180Lhet unknown0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CROCC-A609Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.25CROCC-R637Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.353 (possibly damaging)
0.25CROCC-R901Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-R903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CROCC-V1226Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CROCC-R1795Ghet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUC17-A427Thet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC17-I1130Thomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25MUC17-P3596Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC17-STPSVDR3597FNVPVDThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TECPR1-H624Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TECPR1-W621*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (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
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
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
0.25BX648926-T119MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BX648926-K63Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BX648926-Q16RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25C3orf18-A162VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C3orf18-A53Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPN2-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
0.25TNIP2-L409Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNIP2-A396Vhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MST1-R653Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-T294Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.17 (benign)
0.25MST1-T159Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-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
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25KCTD18-T387Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCTD18-A333Vhomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-S540Delhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25TMEM59L-R201Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TMEM59L-D254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25TMPRSS3-I253Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25MIB2-M45Thomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MIB2-Q441*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SRRD-A99Thomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.6 (possibly damaging)
0.25SRRD-I328Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLK10-L149Phet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KLK10-C52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLK10-S50Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TNXB-N4055Ihet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25PSORS1C1-P24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PSORS1C1-H40Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25TRIM15-I29Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CAMTA2-A867Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAMTA2-A267Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (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
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), 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
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-V481Ihet unknown0.270Unknown
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
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PPP1R3G-C124*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PPP1R3G-P280Qhomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhomozygous0.722Unknown
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)
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25LRRC50-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
0.25ANKRD11-A2265Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD11-P1837Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD11-A971Vhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-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
0.25VCAN-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
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-D386Nhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-E825Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WDR25-W88Rhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.25WDR25-H149Rhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.706 (possibly damaging)
0.25WDR25-W536Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.125CYP4F2-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)
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0HBZ-I18Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0DHCR7-G387Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,743,807,495 bases (96.0% of callable positions, 89.1% of total positions)

Coding region coverage: 31,300,833 bases (94.0% of all genes, 95.1% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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