huBEDA0B - GET-Evidence variant report

Variant report for huBEDA0B

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-P1780AHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000371816Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report.1
2LRP5-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
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
6PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
7rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
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
8SCNN1G-E197KLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00641383May cause slight increased risk of rare, CFTR-like disease.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
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
12CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
13SP110-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
14ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
15ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
16rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
17FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
18PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
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
20IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21TTR-T139MLowUncertainUncertain protective

Dominant, Heterozygous
0.00241681This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect.1
22TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
23EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
24PMS2-P470SLowLikelyLikely benign

Unknown, Homozygous
0.374884Benign, common variant.1
25CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
26FANCA-M717ILowLikelyLikely benign

Unknown, Heterozygous
0.0216583Rare polymorphism, not considered pathogenic.1
27RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
28BRCA1-R1347GLowUncertainUncertain benign

Unknown, Heterozygous
0.00427589Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect.1
29FLG-H2463DLowUncertainUncertain benign

Unknown, Heterozygous
0.00650678Tentatively evaluated as benign. Other, much more severe null mutations cause increased susceptibility ichthyosis vulgaris, atopic eczema, and allergies.1
30ALK-L1033PLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Tentatively evaluated as nonpathogenic, although other disruptive variants are associated with familial neuroblastoma.1
31PMS1-Y90ShiftLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125This variant is tentatively evaluated as benign, as the only publications linking mutations in this gene to disease have been contradicted.1
32NOTCH3-P496LLowUncertainUncertain benign

Unknown, Heterozygous
0.015625Presumed benign, seen in two healthy PGP participants.1
33LRRK2-N2081DLowUncertainUncertain benign

Unknown, Heterozygous
0.0135738Reported as a rare, nonpathogenic variant.1
34DCTN1-R1049QLowUncertainUncertain benign

Unknown, Heterozygous
0.00139431Although rare and predicted to have a damaging effect, Vilarino-Guell et al. find the variant did not segregate with neurological disease and conclude it is not deleterious.1
35COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
36TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
39APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
40RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42HTRA2-G399SLowUncertainUncertain benign

Unknown, Heterozygous
0.00362521Although one group reported this variant as being associated with Parkinson’s disease, their screen lacked statistical significance and later studies have found equal frequencies of this variant in unaffected controls. Knockout of this gene is reported to cause parkinsonianism in mice, but another functional study found no impact on the mitochondrial pathway they implicate as being causal in Parkinson’s.1
43GALT-N314DLowUncertainUncertain benign

Unknown, Homozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
44TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
45FKTN-N446DLowUncertainUncertain benign

Unknown, Heterozygous
0.00901654Probably benign.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31497005 / 33212919 = 94.83%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7670250896057314306138955553-955753, 957758, 970696-970697, 976064-976065, 976074-976080, 976110-976119, 976122, 976135, 976140-976142, 976201-976260, 976553-976777, 976858-976920, 976937-976984, 977020-977067, 977080-977082, 977394-977417, 977486, 977501-977507, 977511-977512, 977527-977528, 978693-978730, 978743-978788, 979023-979064, 979334, 979339, 979379-979380, 979383-979384, 979391, 979394, 981792-981793, 981797, 981811-981826, 981833, 981836-981847, 981850-981888, 981891-981900, 981915-981928, 981931-981933, 981945-981977, 981980, 981985, 981987-981991, 981996, 981998, 982000-982006, 982023-982036, 982045-982052, 982064-982067, 982077-982082, 982276, 983392-983403, 983421-983424, 983428-983431, 983444-983446, 983449-983477, 983485-983493, 983496-983498, 983500, 983503, 983516-983521, 983528, 983565-983745, 984256, 984310, 984335-984342, 984346-984349, 984353-984372, 984381-984386, 984415, 984418-984421, 984428, 984701, 985175, 985340-985345, 985362-985382, 985386, 985417, 985642-985645, 985685-985691, 985703, 985849-985855, 986689, 986692-986693, 986697, 986710, 986833-986856, 986868-986890, 986958, 987128, 989900
2GABRD10.947019867549677213591950863-1950930, 1961010-1961011, 1961508, 1961515
3PEX1010.829765545361881679812337923-2337937, 2337943-2337958, 2339998, 2340001, 2340004-2340005, 2340008-2340020, 2340200-2340204, 2340211-2340212, 2343830-2343941
4NPHP410.9759402008876410342815923968, 5923972, 5925254-5925256, 5935068-5935098, 5935151-5935154, 5935157-5935158, 5937227, 5937230-5937238, 5937246, 5937249, 5937254-5937261, 5950949, 5950954-5950956, 5950960-5950962, 5950967, 5950973, 5964753-5964761, 6012871-6012877, 6021868-6021882, 6021885
5ESPN10.6105263157894799925656485016-6485224, 6485243-6485244, 6485255-6485289, 6485295, 6485298-6485302, 6488386-6488392, 6500361-6500394, 6500406-6500440, 6500450-6500486, 6500499, 6500686-6500868, 6501015-6501046, 6501058-6501061, 6505840-6505868, 6505888-6505920, 6505931-6505937, 6505990, 6508701-6508702, 6508720-6508721, 6508732, 6508738, 6508752, 6508803-6509111, 6509135, 6511703-6511709, 6511956, 6520109-6520127
6PLEKHG510.8613985575415544231896528266, 6529183-6529185, 6529702, 6530336-6530352, 6530628-6530633, 6530639, 6530795-6530822, 6530839-6530853, 6530868-6530880, 6530898-6530900, 6531081-6531088, 6531112-6531159, 6531589-6531598, 6531602, 6531621-6531627, 6531825, 6532665-6532671, 6533411, 6533414-6533415, 6533417, 6534073-6534224, 6534511-6534612, 6537672-6537675, 6537680-6537684, 6537687, 6557380-6557383
7KIF1B10.9943534726143430531310357017-10357026, 10357031-10357040, 10383964-10383965, 10425557-10425564
8PEX1410.9717813051146432113410535051-10535059, 10659338, 10659342-10659346, 10684435, 10684438-10684439, 10684443, 10684446-10684451, 10684478-10684483, 10689965
9TARDBP10.994377510040167124511082356-11082362
10MASP210.997573993207185206111094895, 11105499, 11105503-11105504, 11106782
11MTHFR10.9903602232369419197111853984-11853990, 11854531-11854535, 11861303-11861306, 11863117-11863119
12PLOD110.9748168498168555218411994837-11994878, 11994882, 11994889-11994891, 11994896, 12009874-12009876, 12010467-12010469, 12010475, 12023675
13CTRC10.99504337050805480715771126-15771127, 15771135, 15771144
14CLCNKA10.9622093023255878206416349191, 16349194, 16352688-16352691, 16352714, 16353031-16353039, 16353075-16353079, 16353220-16353270, 16355702, 16357064, 16358271, 16358962, 16358965-16358966
15CLCNKB10.9941860465116312206416375059, 16375063-16375064, 16378793-16378794, 16378851-16378857
16ATP13A210.980524978831569354317312802, 17313334, 17313343, 17313585-17313630, 17313649-17313654, 17322608-17322617, 17326743, 17332254, 17332257-17332258
17SDHB10.99406880189798584317354266-17354270
18ALDH4A110.995271867612298169219202926-19202928, 19228985-19228987, 19228993, 19228998
19PINK110.7766323024055390174620960042-20960428, 20972107-20972108, 20972121
20ALPL10.9853968253968323157521889635-21889636, 21889641-21889645, 21889654-21889655, 21903910, 21903917-21903919, 21904074-21904079, 21904138-21904141
21HSPG210.980874316939892521317622149818-22149827, 22149956, 22155539, 22155546-22155548, 22155559, 22157506-22157512, 22165387-22165393, 22165416-22165419, 22165437, 22165453, 22165897, 22165914, 22165931-22165933, 22166402-22166408, 22170701, 22176634, 22176942-22176943, 22176966-22176972, 22181416, 22182026, 22182043, 22182048, 22182053, 22183825, 22183828, 22191393, 22191439-22191442, 22191454, 22198700-22198702, 22199113-22199157, 22199166-22199189, 22199508, 22199511, 22199517, 22199523-22199525, 22202231-22202240, 22206999-22207008, 22207013, 22211156-22211160, 22214014-22214026, 22263648-22263710
22WNT410.9185606060606186105622446619-22446621, 22446719, 22446743-22446745, 22446855, 22446858, 22469339-22469415
23RPL1110.99068901303538553724022379-24022383
24GALE10.999044890162371104724122679
25FUCA110.88151320485368166140124194394-24194398, 24194421-24194428, 24194431-24194437, 24194442, 24194457-24194465, 24194473-24194513, 24194517-24194523, 24194530-24194533, 24194550-24194569, 24194628-24194638, 24194689-24194730, 24194743-24194753
26LDLRAP110.905070118662358892725870190-25870277
27SEPN110.89028776978417183166826126722-26126904
28YARS10.997479521109014158733251965-33251968
29HPCA10.929553264604814158233359162, 33359165, 33359169, 33359370-33359380, 33359392-33359401, 33359412-33359417, 33359424, 33359439-33359447, 33359456
30GJB310.99384993849938581335251075-35251079
31COL9A210.9772946859903447207040766961, 40768394, 40768402, 40769500, 40769504, 40777181-40777182, 40777214, 40777357, 40777360, 40781293-40781302, 40781305, 40782839-40782855, 40782861-40782869
32KCNQ410.80842911877395400208841249766-41250009, 41250052, 41284177-41284199, 41284228, 41284242-41284248, 41284254, 41284266, 41284274-41284352, 41285020-41285022, 41303983-41304005, 41304038-41304042, 41304045, 41304056, 41304066-41304068, 41304133-41304139
33CLDN1910.971851851851851967543201551, 43201557, 43201561-43201562, 43201565-43201568, 43201572-43201579, 43201585-43201586, 43205572
34LEPRE110.82948891904116377221143212431-43212435, 43215927-43215933, 43232181-43232227, 43232237-43232468, 43232479-43232538, 43232554-43232577, 43232617, 43232626
35SLC2A110.9722785665990541147943394664, 43395264, 43395273-43395280, 43395285-43395291, 43395295-43395299, 43395654, 43424305-43424322
36MPL10.9564989517819783190843805648-43805652, 43805711-43805720, 43806157-43806161, 43806172-43806184, 43814514-43814524, 43814527, 43814533-43814534, 43814967, 43814970-43814981, 43814985-43815006, 43815014
37MUTYH10.9923518164435912156945798071, 45798300, 45798313-45798314, 45798318, 45799222-45799224, 45799233-45799236
38STIL10.9909490561158535386747737865, 47746791-47746798, 47748075, 47748119-47748125, 47753331-47753332, 47759193-47759197, 47759206-47759207, 47765693-47765700, 47765703
39ORC110.9949729311678313258652850314-52850318, 52850326-52850333
40CPT210.9767324228629246197753662616-53662620, 53662626-53662627, 53662630-53662641, 53662696, 53662702-53662712, 53662716-53662723, 53662760-53662766
41DHCR2410.85041908446164232155155319732, 55352562-55352792
42BSND10.985462097611631496355464860, 55472790-55472802
43PCSK910.9740259740259754207955505526, 55505540-55505545, 55505549-55505554, 55505563-55505572, 55505590-55505597, 55521755-55521760, 55521763-55521765, 55521770-55521773, 55521780, 55524237, 55529198, 55529209-55529215
44LEPR10.997712978845058349866058454, 66067265, 66083687, 66083690-66083691, 66083697, 66083700, 66083823
45RPE6510.999375780274661160268904650
46CTH10.998357963875212121870881639, 70897817
47ACADM10.9890453834115814127876198383-76198384, 76205727-76205737, 76228447
48GLMN10.994957983193289178592712684-92712690, 92732278, 92732288
49RPL510.99440715883669589493300451, 93307410, 93307413-93307415
50ABCA410.9907651715039663682294461677-94461685, 94473831, 94473842, 94473845-94473846, 94495012-94495018, 94496559, 94497410, 94497413-94497415, 94497490-94497497, 94522166-94522167, 94522178-94522179, 94544146-94544170, 94564505
51DPYD10.9883040935672536307897770843-97770844, 97847979-97848002, 97848012-97848017, 97915712, 97915722-97915724
52AGL10.99695585996956144599100361890, 100361903, 100361906-100361907, 100376275-100376278, 100377961, 100377972, 100377975-100377978
53COL11A110.962983324170792025457103354138, 103354154, 103363693-103363699, 103364222-103364248, 103364264-103364303, 103364497, 103364530-103364535, 103364542, 103364549-103364550, 103377766-103377768, 103380273, 103380334, 103388892-103388895, 103412439, 103412448, 103412472-103412478, 103435775-103435780, 103435783, 103435790, 103435803-103435805, 103435812-103435816, 103440423-103440430, 103455096, 103471647, 103471821-103471866, 103471869, 103488310, 103488318, 103488321-103488322, 103488326-103488328, 103496672-103496686, 103544347-103544349
54GSTM110.11567732115677581657110230496-110230531, 110230792-110230867, 110231295-110231359, 110231670-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235904-110235917
55AMPD110.9995543672014312244115236067
56NGF10.99311294765845726115828713, 115829258-115829261
57VANGL110.9987301587301621575116226622, 116226630
58CASQ210.9966666666666741200116275522-116275525
59HSD3B210.9928507596067981119119964514-119964521
60PHGDH10.9993757802746611602120278024
61NOTCH210.967502696871632417416120465326-120465328, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611948-120611967, 120611977-120612020
62HFE210.9953161592505961281145415747-145415751, 145415825
63PRPF310.999512670565312052150315905
64FLG10.99762021992452912186152275367-152275368, 152276255-152276256, 152276267, 152277436, 152278434, 152279210, 152279373, 152279406, 152282128-152282131, 152282305, 152284553-152284565, 152285048
65CHRNB210.933068257123921011509154540521, 154540527, 154540532-154540534, 154540537-154540542, 154540559, 154544122-154544124, 154544349-154544355, 154544361, 154544364, 154544378-154544431, 154544443-154544452, 154544535-154544538, 154544572-154544575, 154544581-154544582, 154544586-154544587, 154544591
66PKLR10.98724637681159221725155269983, 155269990-155270001, 155270003-155270008, 155270017-155270018, 155270034
67LMNA10.9470899470899530567156105043-156105066, 156105080-156105082, 156105763-156105764, 156106132
68LMNA10.97944862155388411995156084726-156084728, 156084946, 156084965, 156084982, 156105043-156105066, 156105080-156105082, 156105763-156105764, 156106132, 156108305-156108309
69SEMA4A10.98075240594926442286156124433-156124447, 156131137-156131161, 156131217-156131218, 156131228, 156131240
70NTRK110.945211208699291312391156830727-156830834, 156830856-156830857, 156830868, 156830871-156830874, 156830900, 156830903-156830906, 156843473-156843476, 156848970-156848974, 156848989-156848990
71KCNJ1010.9921052631578991140160012060-160012063, 160012069-160012073
72ATP1A210.9990205680705233063160100303-160100305
73PPOX10.99163179916318121434161136657-161136662, 161136674-161136678, 161138948
74NDUFS210.9956896551724161392161172214, 161172219, 161180381-161180384
75MPZ10.897039897039980777161275736-161275742, 161275906-161275908, 161276141-161276165, 161276186-161276187, 161279645-161279649, 161279683-161279720
76DDR210.9996105919003112568162749945
77TBX1910.9933184855233991347168282140-168282148
78SLC19A210.93306559571621001494169454829-169454853, 169454862-169454863, 169454866, 169454885-169454888, 169454891-169454892, 169454926-169454991
79F510.9988014981273486675169510337-169510343, 169515815
80MYOC10.9940594059405991515171605261, 171621203-171621210
81FASLG10.997635933806152846172628346, 172628349
82DARS210.9958720330237481938173794454-173794461
83NPHS210.878472222222221401152179544785-179544789, 179544819-179544826, 179544865-179544867, 179544870-179544876, 179544883-179544999
84LHX410.97442455242967301173180199665-180199688, 180199698-180199701, 180199706, 180199715
85RNASEL10.98023360287511442226182555455-182555459, 182555785-182555823
86LAMC210.98883305415969403582183155494-183155505, 183177111-183177117, 183184691, 183205620, 183208602-183208610, 183208619-183208622, 183208629-183208634
87HMCN110.997397681570854416908185704033-185704039, 185970480-185970482, 185970828, 185970832-185970835, 185976312, 185976326, 185976337-185976342, 186008075-186008076, 186052066-186052068, 186052072, 186086648-186086652, 186101491, 186101506-186101508, 186101520, 186101523, 186113766-186113769
88PDC10.99190283400816741186418586-186418591
89CDC7310.9987468671679221596193091332, 193091345
90CFH10.995670995671163696196642987, 196658695, 196658720-196658722, 196658726-196658730, 196658733-196658737, 196697517
91CFHR510.9988304093567321710196953095, 196963319
92ASPM10.9893617021276611110434197057498-197057505, 197057516-197057526, 197060037, 197065157, 197069712-197069714, 197073811, 197101469, 197101477, 197113135, 197115466-197115511, 197115519-197115555
93CRB110.9985785358919764221197316597, 197325991-197325992, 197411420-197411422
94CACNA1S10.98932764140875605622201009369, 201009379-201009383, 201009796-201009841, 201081451-201081458
95CHIT110.9957173447537561401203186078, 203192362-203192366
96CD4610.9875151200207930926-207930927, 207943666-207943668, 207943687-207943696
97LAMB310.98408638817846563519209788684-209788706, 209788731-209788740, 209790903, 209790906, 209790909-209790915, 209790918-209790920, 209796341, 209796344, 209796363-209796368, 209796384, 209797005, 209797008
98IRF610.995726495726561404209969811-209969816
99RD310.998299319727891588211652658
100USH2A10.9925043244282111715609215848051, 215848054, 215916519-215916523, 215916559-215916576, 215916597-215916633, 215956200-215956222, 216061814, 216061836, 216138791, 216251454, 216251459-216251464, 216251467, 216251471-216251484, 216251491, 216405362-216405363, 216424376, 216595345, 216595471-216595472
101LBR10.997835497835541848225592145, 225592158-225592159, 225607144
102PSEN210.9940608760207981347227071515-227071518, 227071521, 227071525, 227071583-227071584
103ADCK310.99331275720165131944227171795-227171806, 227172354
104GJC210.2083333333333310451320228345460-228345462, 228345470-228345476, 228345481, 228345486-228345490, 228345493, 228345496-228345497, 228345501-228345507, 228345514-228345672, 228345683-228345712, 228345721-228345948, 228345954-228345993, 228346017-228346224, 228346231-228346270, 228346283-228346289, 228346339-228346640, 228346674, 228346680, 228346707-228346708, 228346750
105ACTA110.782186948853622471134229567500, 229567777-229567778, 229567781-229567790, 229567802-229567805, 229567816-229567822, 229567856-229567932, 229568017-229568090, 229568099-229568144, 229568154-229568178, 229568467
106GNPAT10.99118942731278182043231398476-231398483, 231398488, 231398493-231398501
107LYST10.995440995967035211406235856772, 235866141-235866143, 235897873, 235944232-235944240, 235944244, 235944258, 235944265, 235944269-235944273, 235944286-235944301, 235950547-235950552, 235950558, 235956827, 235969149-235969150, 235969162, 235969208, 235972294, 235972297
108ACTN210.937802607076351672685236849974-236850099, 236898983-236898985, 236900422-236900426, 236914801-236914809, 236917299-236917302, 236924413-236924432
109MTR10.98578199052133543798237013694-237013735, 237054569, 237054574-237054578, 237058744, 237058751, 237058754-237058756, 237060343
110RYR210.9880568974771917814904237205822-237205869, 237632457-237632458, 237632462-237632463, 237656268-237656282, 237656362, 237656368-237656371, 237664055, 237666741, 237729875, 237791117-237791118, 237791132, 237791136, 237791218-237791230, 237801711-237801714, 237821248, 237821253, 237821256, 237821259-237821264, 237821269-237821289, 237821306-237821309, 237838087, 237863662, 237881765, 237881767, 237881770, 237881776, 237919648-237919654, 237958619-237958631, 237972259-237972280
111FH10.955642530985681533241661142, 241661163, 241661182-241661183, 241663862-241663871, 241663890, 241669319-241669320, 241672038-241672064, 241675337-241675338, 241676904-241676909, 241676914, 241676918-241676923, 241682892, 241682948-241682950, 241682965-241682968, 241682971
112NET1100.953098827470698417915454656-5454675, 5454694-5454703, 5454705-5454708, 5454711-5454719, 5454735, 5454737-5454740, 5454742-5454752, 5454767-5454775, 5454782-5454783, 5497030-5497042, 5498151
113GATA3100.967041198501874413358097642, 8097680, 8097717-8097722, 8097737, 8097740, 8097839-8097844, 8097851-8097853, 8097857-8097859, 8100539, 8100724, 8100735, 8100740, 8100742-8100752, 8106091-8106097
114OPTN100.999423298731261173413151250
115PHYH100.9213372664700180101713330372-13330373, 13330442-13330444, 13341968-13342042
116DCLRE1C100.9995189995191207914970033
117CUBN100.9927336276674791087216878344, 16882329-16882348, 16882357-16882386, 16970242-16970243, 16970248, 16982217-16982219, 16990551, 16990557-16990559, 17085888-17085889, 17085937, 17085946, 17110609, 17142072, 17142093-17142097, 17142114, 17146456-17146461
118PTF1A100.2462006079027474498723481460-23482195, 23482769-23482776
119MYO3A100.999793856936711485126500842
120PDSS1100.91185897435897110124826986651-26986655, 26986662-26986670, 26986678-26986763, 26986766, 26994265-26994266, 26994314, 27035296-27035297, 27035300-27035303
121RET100.96651718983558112334543572707-43572779, 43595968-43595972, 43595982, 43596000-43596003, 43596023-43596027, 43596033, 43596036-43596037, 43600588-43600590, 43600593, 43600602-43600611, 43600615, 43600624-43600626, 43600633-43600634, 43606860
122ERCC6100.9875055778670256448250667090, 50669478, 50669481, 50691447, 50691459, 50691462-50691464, 50708640, 50738813-50738818, 50738823, 50738828-50738833, 50740797-50740825, 50740839, 50740850-50740853
123CHAT100.88072986203827268224750822262-50822437, 50822450-50822498, 50827806-50827807, 50833656-50833658, 50833665-50833669, 50833672, 50835775, 50857558-50857586, 50870722, 50872823
124PCDH15100.98200033961623106588955582339-55582345, 55582696-55582698, 55587157, 55587191-55587222, 55587231-55587241, 55626458-55626485, 55782822, 55973743-55973765
125EGR2100.960167714884757143164573009-64573014, 64573020-64573026, 64573033-64573040, 64573355-64573368, 64573483-64573504
126KIAA1279100.9973204715975186670748708-70748709, 70748712, 70768626, 70768631
127NODAL100.97796934865923104472201231-72201243, 72201326-72201330, 72201355-72201359
128PRF1100.9886091127098319166872358428-72358430, 72358658, 72358891-72358897, 72360333-72360340
129PCBD1100.99047619047619331572648288-72648290
130SLC29A3100.995098039215697142873082573, 73082622-73082625, 73111485, 73111488
131CDH23100.98955847255371051005673270966, 73326555-73326567, 73375328-73375331, 73462369, 73464764-73464766, 73464781, 73537494-73537524, 73548785-73548799, 73565739-73565740, 73565934, 73565937, 73565942-73565950, 73565962, 73566027-73566031, 73566034-73566035, 73571712-73571713, 73571724-73571726, 73574842-73574849, 73574904-73574905
132PSAP100.998095238095243157573587896-73587898
133VCL100.9762114537444981340575757966, 75757986-75757992, 75758005-75758009, 75758015-75758017, 75758021, 75758028-75758029, 75758038, 75758081, 75758086, 75758089-75758133, 75834510, 75854114, 75854127, 75864953-75864954, 75871683-75871684, 75873961, 75873963-75873968
134RGR100.99774774774775288886008690-86008691
135LDB3100.9716117216117262218488441434, 88476091, 88476113-88476114, 88476152, 88476165-88476190, 88476201-88476205, 88476275, 88476297-88476298, 88476415-88476426, 88476432-88476442
136GLUD1100.74299344066786431167788836365, 88854082-88854323, 88854339-88854526
137LIPA100.99753120090974620-90974621, 90988044
138LGI1100.999402628434891167495553030
139PLCE1100.999710522506882690995994014, 96006357
140ZFYVE27100.9886731391585814123699512876, 99512879-99512882, 99512902, 99512905, 99512909-99512915
141HPS1100.98528015194682312106100177360-100177383, 100177386, 100177393-100177396, 100179896, 100190427
142COX15100.9983779399837821233101474452, 101480778
143ABCC2100.999784389823214638101557025
144PAX2100.95842956120092541299102566307-102566322, 102586766, 102586844, 102587331, 102587334-102587335, 102587345-102587350, 102587352-102587358, 102587400-102587414, 102587418-102587419, 102587429-102587431
145FBXW4100.778853914447132741239103371118-103371143, 103371146, 103371149-103371158, 103371161, 103436142, 103436145, 103454138-103454340, 103454354-103454384
146HPS6100.788659793814434922328103825232-103825578, 103825596, 103825610-103825611, 103825623-103825627, 103825636-103825643, 103825649-103825659, 103825665-103825668, 103825705-103825732, 103825747, 103825758-103825779, 103825790-103825815, 103825840-103825841, 103826019, 103826024-103826025, 103826065, 103826068-103826072, 103826678, 103826987-103827008, 103827025, 103827253, 103827444
147SUFU100.926460481099661071455104263910-104264008, 104264034-104264036, 104264087-104264091
148COL17A1100.99065420560748424494105798187, 105798196, 105816786, 105816796-105816799, 105816808-105816827, 105816831-105816834, 105816846, 105816864, 105816867, 105816873-105816878, 105816905, 105816916
149SHOC2100.9994282447112611749112724765
150HABP2100.998217468805731683115341871-115341873
151EMX2100.56916996047431327759119302779-119303050, 119303078, 119303090-119303099, 119303113-119303150, 119303175-119303180
152BAG3100.894097222222221831728121411188-121411367, 121436741-121436743
153FGFR2100.9886317498985282463123274648-123274649, 123274671-123274681, 123274689, 123310883-123310884, 123310914-123310924, 123324981
154ARMS2100.975308641975318324124214493-124214499, 124214507
155HTRA1100.69715869715874371443124221169-124221592, 124221623-124221635
156ACADSB100.99076212471132121299124797270, 124800838-124800840, 124800856, 124810661-124810667
157OAT100.98863636363636151320126100640-126100654
158TALDO1110.90236686390533991014747482-747578, 763344-763345
159SLC25A22110.83230452674897163972791932-791939, 791943, 791949-791953, 792208, 792323-792358, 792562-792568, 792598-792605, 792608-792613, 792616, 792624-792633, 792644-792649, 792652-792655, 792659-792670, 792672-792676, 792684-792726, 792870, 792885, 792902, 792952, 794792, 794809, 794813-794816
160PNPLA2110.640264026402645451515819719-819905, 823998-824020, 824095-824096, 824314-824340, 824357-824377, 824395-824436, 824524, 824537-824740, 824754-824755, 824760-824763, 824773-824780, 824788-824793, 824803-824809, 824814-824823, 824857
161CTSD110.8853914447134814212391774746-1774747, 1774758, 1774820-1774822, 1775033, 1775036-1775041, 1775051-1775056, 1775226-1775270, 1775333, 1775338, 1775349-1775356, 1785022-1785089
162TNNI2110.95628415300546245491862065, 1862291, 1862298, 1862308-1862312, 1862318-1862322, 1862324-1862325, 1862332-1862340
163TNNT3110.9897039897039987771950368, 1959675-1959681
164H19110.946778711484595710712017412-2017413, 2017415, 2017525, 2017752-2017757, 2017781-2017791, 2017796-2017801, 2017810, 2017825-2017826, 2017836-2017837, 2017847-2017850, 2017967-2017987
165IGF2110.734177215189871897112154251-2154254, 2154337, 2154356-2154377, 2161365-2161526
166TH110.8450793650793724415752186915, 2187710-2187779, 2187863-2187998, 2188709-2188715, 2191038, 2191101, 2191960-2191981, 2191984-2191989
167KCNQ1110.8562284588872529220312466329-2466581, 2466600-2466605, 2466615-2466623, 2466637-2466638, 2466648, 2466659-2466663, 2608800-2608803, 2610040-2610043, 2869107-2869110, 2869130-2869133
168CDKN1C110.33228180862256359512905258, 2905276-2905277, 2905290, 2905344-2905345, 2905348, 2905900-2906429, 2906440, 2906455, 2906468-2906472, 2906475, 2906486-2906532, 2906574-2906576, 2906589, 2906592, 2906623-2906644, 2906696-2906705, 2906709-2906713, 2906715
169SMPD1110.991033755274261718966411928-6411930, 6411935, 6411946-6411948, 6411954-6411960, 6412979-6412981
170TPP1110.987588652482272116926637964-6637984
171SBF2110.984324324324328755509838456-9838460, 9838473-9838474, 9838478-9838479, 9838485-9838490, 9838497, 9871633, 9983631-9983634, 9989888-9989889, 10013986-10013988, 10014085-10014090, 10315562-10315616
172KCNJ11110.996589940323964117317409325-17409328
173ABCC8110.9806152549515492474617419273-17419274, 17452427-17452430, 17452434-17452438, 17482138, 17485061-17485064, 17498176-17498182, 17498194, 17498197, 17498234-17498259, 17498269-17498295, 17498298-17498303, 17498306-17498311, 17498314, 17498323
174USH1C110.91481481481481230270017531122-17531351
175HPS5110.9943952802359919339018327022-18327040
176LDHA110.971971971971972899918422423, 18422426-18422429, 18422433-18422439, 18422487-18422491, 18422506, 18422509, 18424439, 18427010-18427017
177SLC6A5110.9590643274853898239420622721-20622724, 20622730-20622745, 20622756, 20622759, 20622779-20622782, 20622795, 20622859-20622878, 20622887, 20622918-20622919, 20622930-20622938, 20622946, 20622954, 20622972-20622985, 20622998-20622999, 20623004-20623007, 20623011, 20623020-20623021, 20623025-20623030, 20623041-20623042, 20623058, 20623149, 20623154-20623156, 20623161
178ANO5110.9919766593727222274222242729, 22249049-22249058, 22277003-22277010, 22277013, 22277035, 22277067
179FANCF110.9902222222222211112522646809, 22646842-22646846, 22646851-22646853, 22647076-22647077
180PAX6110.993695823483068126931811483, 31824271, 31824303-31824308
181WT1110.71621621621622441155432449512-32449565, 32456336-32456348, 32456363-32456364, 32456367, 32456372, 32456381-32456382, 32456436-32456437, 32456441-32456443, 32456452-32456454, 32456473, 32456479-32456485, 32456504-32456508, 32456511, 32456515, 32456518-32456525, 32456545-32456606, 32456617-32456891
182PDHX110.9681274900398448150634938203-34938212, 34938215, 34938219-34938220, 34982035-34982048, 34991742-34991745, 34991756-34991757, 34991773-34991775, 34991778, 34991781, 35016532-35016541
183RAG1110.999680715197961313236595056
184EXT2110.998145572554474215744228379-44228382
185ALX4110.90695792880259115123644331147-44331180, 44331228, 44331253, 44331269, 44331274-44331279, 44331295-44331297, 44331300-44331315, 44331357, 44331378-44331412, 44331460, 44331509, 44331512, 44331573-44331581, 44331587-44331588, 44331606-44331608
186SLC35C1110.9460227272727357105645827624-45827641, 45827664-45827700, 45827800, 45832694
187PEX16110.9596541786743542104145935944, 45935955-45935960, 45935963-45935971, 45937364-45937376, 45937382, 45939272, 45939275-45939282, 45939288-45939290
188F2110.995719636169078186946747514-46747519, 46747548, 46747552
189DDB2110.996884735202494128447237981-47237984
190MADD110.9963592233009718494447296657, 47311448-47311454, 47311459-47311465, 47311476-47311478
191MYBPC3110.998954248366014382547365052-47365053, 47372096-47372097
192SLC39A13110.9811827956989221111647431679, 47431746, 47431749, 47431765, 47433918, 47434962, 47434965, 47434968-47434971, 47434986, 47435028-47435034, 47436851-47436852
193RAPSN110.9451170298627968123947460339-47460340, 47460392, 47460400, 47460403-47460409, 47463208-47463210, 47463223-47463224, 47463428-47463467, 47464251, 47464260, 47469533-47469535, 47470345, 47470363-47470368
194SERPING1110.9740518962075839150357365744-57365771, 57365779-57365784, 57365787-57365790, 57381929
195GIF110.997607655502393125459599162, 59599205, 59612880
196TMEM216110.98863636363636326461165296-61165297, 61165302
197BEST1110.9766780432309441175861719340-61719344, 61719352, 61719357, 61723190-61723193, 61723308, 61723375-61723398, 61724466-61724470
198ROM1110.997159090909093105662380826, 62380829, 62380959
199BSCL2110.9913606911447112138962457911-62457922
200SLC22A12110.9891696750902518166264367258, 64367261, 64367264-64367269, 64367276-64367284, 64367301
201PYGM110.9897192566231726252964521054-64521058, 64521076-64521078, 64521086, 64521090, 64521107, 64521111, 64521139-64521148, 64527160-64527163
202MEN1110.9940476190476211184864571993, 64571996, 64573141-64573144, 64573163, 64577239, 64577520, 64577523, 64577544
203RNASEH2C110.907070707070714649565487534, 65487851, 65488164, 65488168-65488195, 65488206-65488220
204EFEMP2110.999249249249251133265637593
205CST6110.7422222222222211645065779528-65779540, 65779569-65779610, 65779620-65779655, 65779675-65779679, 65779741-65779755, 65780376, 65780411-65780414
206BBS1110.9898989898989918178266281906-66281909, 66281913, 66281976-66281978, 66281982, 66298375-66298381, 66299432, 66299505
207SPTBN2110.986616478460996717366453470, 66453476-66453478, 66454989, 66455339-66455345, 66455368-66455371, 66455387, 66457615-66457618, 66457629-66457631, 66457635, 66457639-66457641, 66457708-66457710, 66457721-66457725, 66460736-66460746, 66460836, 66460839, 66461272, 66461275-66461276, 66463756, 66468135, 66468309, 66468320, 66472502-66472533, 66472726-66472729, 66472924, 66473255, 66473294, 66475246
208PC110.9949109414758318353766618666-66618667, 66620049, 66633658-66633661, 66633678, 66633687, 66633690, 66633693-66633699, 66633818
209CABP4110.986714975845411182867225898-67225906, 67225912-67225913
210AIP110.99496475327291599367257814, 67257823, 67257832-67257834
211NDUFV1110.999283154121861139567379893
212NDUFS8110.99842022116904163367803787
213TCIRG1110.94304051343763142249367810133-67810139, 67810159-67810204, 67810276-67810277, 67810296-67810298, 67810942-67810945, 67811038, 67811042-67811043, 67811317-67811354, 67811366-67811367, 67811651-67811660, 67815021-67815028, 67816578, 67816582, 67817217-67817223, 67817227-67817231, 67817240-67817244
214LRP5110.95936468646865197484868080183-68080273, 68131215-68131246, 68131400-68131408, 68133156, 68133160, 68153789-68153795, 68153805, 68201254-68201258, 68201264-68201279, 68201283, 68201289-68201290, 68207313-68207319, 68207334, 68207341, 68207349, 68207352-68207358, 68207375-68207376, 68207381-68207384, 68216348, 68216449-68216455
215CPT1A110.9771748492678753232268527712, 68560783-68560824, 68562367-68562376
216IGHMBP2110.9956405097250213298268671477, 68682410-68682418, 68701948, 68704340, 68704343
217DHCR7110.9369747899159790142871146455-71146456, 71146459, 71146504-71146544, 71146565-71146599, 71146691, 71146822, 71146825-71146831, 71146840-71146841
218MYO7A110.9917268351383955664876858907-76858908, 76883840, 76883843-76883849, 76885936-76885937, 76890843-76890848, 76890875-76890878, 76890881, 76922287-76922318
219ALG8110.998734977862112158177812169, 77812172
220FZD4110.9789343246592334161486665845, 86665851-86665852, 86665857, 86665898-86665900, 86665903, 86665916, 86665926, 86665929, 86666037, 86666048-86666053, 86666079-86666080, 86666099-86666106, 86666114-86666117, 86666126-86666127
221TYR110.999371069182391159088911134
222MTMR2110.9782608695652242193295582985-95582992, 95657067-95657068, 95657073, 95657076-95657103, 95657109-95657111
223TRPC6110.97854077253219602796101362393, 101454154-101454212
224DYNC2H1110.9684820393974540812945102988390-102988400, 102988504, 102988565-102988587, 102991495-102991512, 102991518-102991526, 102991654-102991655, 102991665-102991668, 102991671, 102991674, 102991741, 103005072-103005074, 103006626-103006627, 103006633, 103006636-103006643, 103006670, 103018505-103018510, 103018537, 103022916, 103024097-103024103, 103024222-103024237, 103025261, 103029516, 103029523-103029533, 103043811-103043861, 103043864, 103043867-103043869, 103043898-103043945, 103043982, 103043990, 103044020-103044030, 103049820-103049825, 103049832-103049840, 103052497-103052503, 103057009-103057012, 103057086-103057099, 103057193-103057201, 103062265-103062268, 103062282, 103062299-103062345, 103070069-103070105, 103074434-103074437, 103093726, 103114520, 103130684, 103157016-103157022, 103157102-103157111
225ACAT1110.97274143302181351284107992343-107992352, 107992371-107992383, 107992386-107992389, 108014715-108014718, 108018090-108018093
226ATM110.981027150801441749171108098363-108098377, 108098384-108098390, 108098560-108098578, 108121730-108121747, 108124761, 108124764-108124765, 108126997, 108127014-108127022, 108127025, 108153441-108153479, 108170605, 108181021-108181024, 108188142, 108188197, 108188200-108188212, 108196070-108196073, 108196078, 108196083, 108199906-108199917, 108202174-108202182, 108202185, 108202191-108202195, 108202201, 108202247, 108202262-108202264, 108202651-108202653, 108235878
227RDX110.9977168949771741752110108284-110108286, 110126068
228ALG9110.95424836601307841836111742086-111742118, 111742129, 111742136-111742145, 111742147-111742179, 111742196-111742202
229DLAT110.99331275720165131944111896216, 111899587-111899590, 111899600, 111899603, 111899606, 111899616, 111910008-111910011
230PTS110.9680365296803714438112097201-112097207, 112097210, 112097217-112097221, 112097229
231APOA1110.9527363184079638804116706625, 116706723-116706725, 116706730-116706731, 116706737, 116706749, 116706752, 116706774-116706775, 116706780-116706782, 116706788-116706791, 116706796-116706807, 116706886-116706893
232FXYD2110.9771689497716910438117693269-117693273, 117693354-117693358
233SLC37A4110.9953183520599351068118898414-118898416, 118898423-118898424
234DPAGT1110.9991850040749811227118967861
235TECTA110.99056457849961616465120996292, 121016744-121016754, 121028657-121028698, 121028710-121028716
236SC5DL110.995555555555564900121174115-121174117, 121174126
237ROBO3110.970680124969961224161124738871-124738873, 124739399, 124739410-124739437, 124739440, 124742411, 124745904, 124745910-124745921, 124745965-124745968, 124745990, 124745994-124745997, 124746009, 124746183, 124746186-124746187, 124746249-124746259, 124746263, 124746269-124746273, 124746279, 124746281, 124746286, 124746291, 124746294, 124746297-124746302, 124746308, 124746312-124746328, 124746335-124746344, 124750436-124750440, 124750444
238ACAD8110.9983974358974421248134131704-134131705
239WNK1120.963351517694782627149862732-862743, 862749, 862782-862821, 862835-862855, 862860-862861, 862893-862939, 862963-862972, 862989-862994, 863146-863155, 863216-863222, 863230-863276, 863293, 968529, 970380, 989120-989121, 989131-989145, 994388, 994400, 994405-994410, 994777-994793, 994800-994808, 994818, 1017851, 1017855-1017856, 1017880
240CACNA2D4120.993263034563562334141902903, 1902906-1902912, 2017077, 2027477-2027480, 2027521-2027522, 2027524-2027527, 2027540-2027543
241CACNA1C120.988416399939037665612224444-2224450, 2224493, 2224513-2224516, 2705094-2705107, 2760875-2760894, 2791761-2791767, 2794934-2794940, 2797892, 2797895, 2800298-2800304, 2800306-2800308, 2800336-2800339
242KCNA1120.990591397849461414885020623, 5020656, 5020683-5020685, 5020693, 5020703-5020707, 5020844-5020846
243VWF120.9798625918028917084426125394-6125398, 6125759, 6128843, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166047-6166051, 6166063-6166066, 6166069, 6166087, 6166091-6166093, 6166103-6166105, 6166108-6166109, 6166137-6166172, 6166198-6166238, 6184514
244TNFRSF1A120.817251461988325013686438478-6438483, 6438493-6438502, 6438508, 6438514-6438518, 6438520, 6438523-6438524, 6438535-6438738, 6438754-6438756, 6438761, 6438770-6438775, 6438785, 6438975-6438977, 6439064-6439067, 6439073, 6450945, 6450949
245SCNN1A120.967992684042077021876472671-6472676, 6472683-6472715, 6472745-6472775
246TPI1120.846666666666671157506976731-6976845
247ATN1120.9686537923313711235737045394, 7045892-7045932, 7045937, 7045989-7045994, 7046368, 7046373, 7046516-7046519, 7046526-7046533, 7046687-7046689, 7046711-7046716, 7046720, 7047047-7047054, 7047067-7047072, 7047139-7047148, 7050609, 7050633-7050635, 7050639-7050649
248PEX5120.99789029535865418967362361-7362364
249AICDA120.9916247906197755978757460-8757462, 8758028-8758029
250CDKN1B120.99497487437186359712871108-12871110
251GYS2120.9853219696969731211221712028-21712054, 21712084-21712086, 21733406
252ABCC9120.995268817204322465021971151-21971153, 21998562, 21998587, 21998694, 22063769-22063772, 22063864, 22068661-22068668, 22068671-22068673
253KRAS120.99649122807018257025380232, 25380284
254FGD4120.996088657105619230132793446-32793454
255DNM1L120.9791949344188146221132832368-32832374, 32832380-32832399, 32890822, 32890825, 32891212, 32895541-32895544, 32895563-32895574
256PKP2120.9797136038186251251433049443-33049466, 33049473-33049474, 33049477, 33049526, 33049530-33049536, 33049545-33049551, 33049600-33049602, 33049612, 33049645, 33049652-33049654, 33049657
257KIF21A120.9881668672282459498639696888, 39709038-39709040, 39725542, 39726466, 39726806, 39756951-39756952, 39760209-39760211, 39760217-39760219, 39836729-39836772
258LRRK2120.989847046413577758440619059, 40619065-40619075, 40643682, 40643723-40643730, 40645053, 40645164, 40646739-40646773, 40687389-40687393, 40692247, 40693005-40693015, 40761493, 40761497
259IRAK4120.999276934201011138344180337
260VDR120.996884735202494128448238709, 48238755-48238757
261COL2A1120.97827060931997446448369387-48369388, 48373310-48373337, 48377870-48377874, 48377877, 48377889, 48380222, 48380225-48380226, 48389692, 48393809-48393819, 48398060-48398104
262PFKM120.997439180537776234348535809, 48535813-48535817
263MLL2120.968580715059595221661449420597-49420598, 49420601-49420603, 49420776, 49420781-49420783, 49420940-49420941, 49423255-49423259, 49424130-49424133, 49424155-49424180, 49425176, 49425790, 49425802-49425803, 49425809-49425812, 49426172-49426173, 49426214-49426218, 49426493, 49426500-49426505, 49426554, 49426564, 49426583-49426584, 49426608, 49426626, 49426634-49426639, 49426644-49426645, 49426726-49426801, 49426820-49426845, 49426898-49426902, 49426906-49426908, 49426916, 49426955-49426961, 49427006-49427031, 49427038-49427138, 49427204-49427229, 49427251-49427261, 49427270-49427276, 49427297-49427302, 49427322, 49427326-49427328, 49427420-49427422, 49427543, 49427605, 49427646-49427673, 49431296-49431304, 49431314-49431319, 49431594, 49431597, 49431693-49431695, 49433104-49433105, 49433268, 49433273-49433274, 49433279-49433286, 49433296-49433299, 49433315, 49433323, 49433377, 49433381-49433385, 49433388, 49433762, 49434081-49434082, 49434916-49434948, 49435108-49435109, 49435114, 49435121, 49435132-49435139, 49435141, 49435193-49435199, 49435203-49435205, 49436398-49436400
264DHH120.80688497061293230119149483646, 49483657, 49483660-49483661, 49483712, 49483715-49483719, 49483734-49483736, 49483740-49483754, 49483757-49483761, 49483784-49483805, 49483840-49483860, 49483862-49483863, 49483868-49483873, 49483883-49483907, 49483913-49483915, 49483922, 49483927, 49483931-49483934, 49483946-49483959, 49483981-49484000, 49484196-49484221, 49484251-49484252, 49488183-49488221, 49488240-49488250
265TUBA1A120.99780701754386145649522238
266AQP2120.96568627450982881650344868-50344869, 50344872-50344897
267ACVRL1120.9828042328042326151252306935, 52306938, 52306941, 52307028-52307031, 52307367-52307375, 52307394, 52307459-52307461, 52308255-52308260
268KRT81120.9664031620553451151852680272, 52681063, 52682999-52683005, 52683918, 52684021-52684027, 52685067-52685068, 52685073, 52685174-52685204
269KRT86120.9418206707734485146152695754-52695779, 52695860-52695867, 52696884-52696917, 52696927-52696933, 52697949-52697955, 52699888, 52699893, 52702196
270KRT83120.9763832658569535148252708591-52708602, 52709848, 52709877, 52709880, 52713084-52713092, 52713117-52713126, 52714741
271KRT6B120.9581120943952871169552842658, 52843578-52843584, 52843632-52843637, 52844255-52844261, 52844375, 52844388, 52845365-52845371, 52845432-52845438, 52845798-52845831
272KRT6C120.92625368731563125169552862850, 52865295-52865300, 52866019-52866021, 52866028, 52867024-52867069, 52867091-52867109, 52867144-52867150, 52867230-52867236, 52867419, 52867457-52867490
273KRT6A120.91799410029499139169552882204-52882225, 52885471, 52885474, 52885480-52885481, 52885490-52885492, 52885495-52885499, 52885503, 52886490, 52886542-52886559, 52886598, 52886681-52886728, 52886907-52886942
274KRT5120.94190637337845103177352908849, 52908885-52908904, 52908910-52908917, 52911919-52911928, 52911938-52911939, 52911943-52911947, 52912870, 52912880-52912935
275KRT2120.99843753192053040615-53040617
276KRT1120.9540051679586689193553069127, 53069130-53069134, 53069223-53069256, 53069260-53069266, 53070121, 53070139-53070140, 53070145-53070156, 53070174, 53070178, 53072490, 53072495-53072512, 53072515-53072519, 53073997
277ITGA7120.9900758902510234342656088567-56088569, 56088586-56088592, 56089341-56089342, 56089350-56089354, 56089357, 56090796, 56096943-56096952, 56101459-56101463
278RDH5120.982236154649951795756114972, 56114978, 56114983, 56114987-56114988, 56114991, 56115585, 56115603-56115604, 56115613, 56117768, 56117777-56117782
279SUOX120.99816849816853163856397740-56397742
280MYO1A120.998722860791834313257430794-57430796, 57432274
281KIF5A120.9835430784123951309957944055-57944068, 57944091-57944119, 57974881-57974886, 57974891-57974892
282CYP27B1120.9914865749836313152758158228, 58158231-58158233, 58159792-58159799, 58160779
283GNS120.9927667269439412165965141663-65141670, 65153018-65153021
284LEMD3120.90716374269006254273665563393-65563438, 65563456, 65563461, 65563466-65563468, 65563473, 65563477, 65563497, 65563550-65563571, 65563590-65563637, 65563650-65563672, 65563711-65563712, 65563727-65563737, 65563740-65563774, 65563784-65563787, 65563832-65563833, 65563842, 65563871, 65563875-65563876, 65563887-65563925, 65563977-65563979, 65563982, 65564391, 65564395, 65612390, 65639692-65639694
285TPH2120.999321113374071147372332840
286CEP290120.97862903225806159744088448162-88448163, 88471555-88471558, 88471679, 88472919-88472931, 88472947-88472986, 88478401, 88479883, 88481601, 88481606, 88481691-88481697, 88490721, 88504979-88505001, 88505474-88505503, 88513980-88513992, 88513999, 88519054, 88522733-88522741, 88522779, 88522793-88522799, 88530509, 88533294
287HAL120.9827760891590734197496370225, 96380859-96380881, 96389532-96389533, 96389546-96389553
288TMPO120.94484412470024115208598909724-98909740, 98909746, 98909753, 98909757, 98909786, 98909794-98909795, 98909798, 98909801-98909825, 98909834-98909837, 98909850-98909876, 98909882-98909916
289SLC25A3120.997245179063363108998987836, 98987865, 98987876
290SLC17A8120.98474576271186271770100774559-100774567, 100774575-100774590, 100797882-100797883
291GNPTAB120.9976133651551393771102224337-102224338, 102224346-102224352
292PAH120.9977924944812431359103288635-103288637
293UNG120.9341825902335562942109535485-109535520, 109535553, 109535556-109535572, 109535576-109535578, 109536344-109536348
294MVK120.998320738874921191110034261, 110034267
295TRPV4120.9992354740061222616110232265, 110246170
296ATP2A2120.96228827101311183129110719595-110719712
297ATXN2120.819888381532227103942111894015-111894016, 111908478, 111908481-111908486, 111924610, 111954039, 112036588-112037256, 112037270-112037286, 112037306-112037318
298PTPN11120.98540965207632261782112856916-112856929, 112891138, 112891147-112891151, 112891158, 112891162-112891166
299SDS120.995947315096254987113830794, 113836579, 113836585-113836586
300TBX5120.9955041746949371557114793679, 114804115, 114804118-114804122
301TBX3120.901881720430112192232115109684-115109690, 115109844, 115109875-115109882, 115109893, 115109904-115109926, 115109929-115109930, 115110046-115110047, 115111970-115111998, 115112008-115112054, 115112095-115112096, 115112142, 115112226-115112253, 115112267-115112274, 115112278, 115112282, 115112286, 115112296-115112310, 115112322-115112329, 115112386, 115112434-115112439, 115112446-115112464, 115112541, 115112561-115112563, 115112573, 115120871, 115120874, 115120906
302ACADS120.98466505246166191239121163693-121163701, 121163704, 121163713-121163714, 121163721, 121163730-121163734, 121175211
303HNF1A120.96993670886076571896121416677, 121434154-121434161, 121434344-121434364, 121435333-121435345, 121437286-121437287, 121437301, 121437308-121437312, 121437382, 121437389-121437390, 121438877-121438879
304EIF2B1120.998910675381261918124116920
305ATP6V0A2120.9949436017114132571124197113, 124197227-124197229, 124241395-124241401, 124241408-124241409
306PUS1120.882398753894081511284132414269-132414301, 132414304-132414308, 132414313-132414315, 132414327-132414341, 132414452-132414530, 132414618-132414624, 132414679, 132425974, 132426240-132426246
307GJB6130.99363867684478578620797391-20797395
308SGCG130.99543378995434487623808790-23808793
309SACS130.988282387190681611374023915133-23915137, 23915140, 23928848-23928851, 23949258-23949408
310CENPJ130.998755290017435401725458600-25458601, 25480457-25480458, 25480575
311PDX1130.596244131455434485228494276, 28494329, 28494343-28494376, 28494398-28494477, 28494486-28494495, 28494505-28494507, 28494519, 28494522-28494523, 28494560, 28494573-28494596, 28494599-28494600, 28494629-28494633, 28494639, 28494678-28494681, 28498395, 28498411-28498417, 28498424, 28498427-28498429, 28498435-28498441, 28498461-28498469, 28498473-28498474, 28498482-28498485, 28498510-28498516, 28498577, 28498584, 28498595-28498605, 28498621-28498658, 28498668-28498675, 28498681-28498752, 28498769-28498770, 28498795
312B3GALTL130.949899799599275149731774222-31774291, 31822030-31822034
313BRCA2130.99834259530077171025732903621, 32905141-32905145, 32906573-32906576, 32906590, 32906601-32906602, 32906610-32906613
314SPG20130.9910044977511218200136905638, 36905641, 36909191, 36909448-36909461, 36909465
315FREM2130.98611987381703132951039261564-39261595, 39261622, 39261637-39261643, 39261674, 39261678-39261679, 39261684-39261686, 39261791, 39261827-39261862, 39261908-39261910, 39261912, 39261915-39261917, 39261929-39261936, 39261956-39261958, 39262057, 39263225-39263232, 39448659-39448665, 39452271-39452284, 39454875
316SLC25A15130.99558498896247490641373275, 41381476-41381478
317TNFSF11130.930817610062896695443148440-43148476, 43148494-43148503, 43148506-43148507, 43148513, 43148531-43148545, 43148549
318SUCLA2130.9734195402298937139248517539, 48528336-48528342, 48528356, 48528359, 48528366, 48528373, 48528379-48528381, 48542803, 48547472-48547477, 48571027, 48571064-48571070, 48575336, 48575339-48575343, 48575369
319RB1130.94904915679943142278748878049-48878056, 48878086-48878185, 48937020-48937031, 48939043-48939045, 48939048-48939053, 48947580, 48947591-48947595, 48947610-48947615, 49051510
320RNASEH2B130.931842385516516493951484213-51484276
321ATP7B130.9965893587994515439852518279, 52518287-52518289, 52518357, 52523871-52523880
322CLN5130.9738562091503332122477566113-77566119, 77566137-77566152, 77566283, 77566286-77566288, 77566290-77566294
323EDNRB130.9285176824680295132978474705-78474719, 78474734-78474782, 78475263-78475277, 78475313, 78477739, 78492251-78492257, 78492518-78492524
324SLITRK1130.9832615973218635209184453772-84453784, 84453787, 84453790-84453798, 84453804-84453815
325ZIC2130.496560350218898051599100634319-100634760, 100634792-100634805, 100634812-100634817, 100634820, 100634883-100634887, 100634936-100634937, 100634940, 100634998-100635001, 100635005-100635016, 100635024-100635025, 100635216, 100637242-100637264, 100637589-100637874, 100637902-100637906, 100637924
326PCCA130.97073616826703642187100741419-100741460, 100764106, 100764110, 100909889-100909891, 100909896-100909903, 100909913-100909915, 100915027-100915030, 100915048, 100915053
327FGF14130.997364953886692759102378987, 102378990
328ERCC5130.99669733427695144239103468854, 103504517, 103514605, 103515391-103515400, 103518699
329COL4A1130.98043912175649985010110822901-110822904, 110822970, 110864261-110864269, 110959291-110959374
330F7130.854681647940071941335113765004-113765164, 113772942-113772948, 113772958-113772960, 113772966-113772967, 113772970-113772973, 113773034-113773043, 113773199-113773205
331F10130.98704839809134191467113798221-113798225, 113798233-113798244, 113803536, 113803539
332GRK1130.95271867612293801692114322081-114322092, 114322141-114322152, 114325876-114325886, 114325890-114325902, 114325905, 114325923-114325939, 114325945-114325948, 114325952, 114426065-114426066, 114426083-114426085, 114426088, 114426092-114426093, 114435949
333TEP1140.997843734145117788420841536, 20844393-20844395, 20850470-20850473, 20851758-20851762, 20851768, 20851773-20851775
334PNP140.99885057471264187020942992
335RPGRIP1140.9997409997411386121769136
336SLC7A7140.9895833333333316153623282118-23282121, 23282125, 23282139-23282149
337PABPN1140.6047774158523336492123790679-23791029, 23792611, 23793406-23793409, 23793468-23793473, 23793478, 23793481
338MYH6140.9955326460481126582023852474, 23852487, 23852515, 23858208-23858223, 23858229-23858230, 23858238, 23858251, 23866258, 23871911, 23871926
339MYH7140.9925964187327843580823884848, 23885252-23885254, 23885356, 23885361-23885366, 23885374-23885379, 23886746-23886747, 23886769-23886772, 23888386-23888393, 23888400-23888405, 23894606-23894609, 23897824, 23900839
340NRL140.6512605042016824971424550497, 24550503-24550510, 24550538-24550777
341PCK2140.9937597503900212192324563639-24563643, 24566300, 24566306-24566307, 24566310-24566313
342TINF2140.997787610619473135624711536-24711538
343TGM1140.999185004074982245424725270, 24728946
344FOXG1140.67210884353741482147029236486-29236960, 29236968-29236971, 29237347, 29237355, 29237797
345COCH140.9806412583182132165331344269-31344300
346CFL2140.9940119760479350135183744-35183746
347NKX2-1140.44112769485904674120636986528-36986534, 36986582-36986592, 36986599, 36986604, 36986607, 36986613, 36986662-36986952, 36986961-36986962, 36987030-36987039, 36987048, 36987052, 36987062-36987069, 36987072, 36987080-36987129, 36987153, 36987157, 36987164-36987165, 36987175-36987213, 36988190-36988381, 36988392-36988397, 36988422-36988426, 36988469, 36989261-36989263, 36989276-36989305, 36989323-36989329, 36989333
348PAX9140.998050682261212102637132251, 37132603
349FANCM140.9897510980966363614745605358-45605385, 45606378, 45623942, 45623954-45623957, 45623974-45623993, 45624583, 45624586, 45644352, 45644458-45644460, 45644518, 45644892, 45667900
350MGAT2140.98437521134450088333-50088353
351C14orf104140.74144789180589650251450100597-50100605, 50100666, 50100673-50100677, 50100683, 50100688, 50100709-50100739, 50100748-50100839, 50100858-50100910, 50100937-50101162, 50101189, 50101235-50101276, 50101309-50101325, 50101331-50101346, 50101350, 50101360-50101395, 50101402-50101409, 50101433-50101482, 50101496, 50101529-50101570, 50101682, 50101689, 50101693, 50101704-50101707, 50101713-50101722
352ATL1140.998194945848383166251089901-51089902, 51098996
353PYGL140.9775943396226457254451381464, 51410886-51410891, 51410920, 51410943-51410972, 51411027-51411042, 51411118-51411120
354GCH1140.7822045152722416475355312513-55312519, 55312523-55312525, 55312528-55312530, 55369039-55369040, 55369080, 55369104, 55369107, 55369110-55369112, 55369118-55369120, 55369214-55369217, 55369226-55369227, 55369232, 55369234-55369236, 55369252-55369381
355OTX2140.99776286353468289457268867-57268868
356SIX6140.962213225371122874160976201-60976204, 60976212-60976214, 60976222, 60976228-60976236, 60976244-60976249, 60976515-60976516, 60976519-60976521
357SIX1140.8771929824561410585561115348-61115371, 61115464-61115489, 61115532-61115541, 61115551-61115555, 61115611, 61115614-61115617, 61115788-61115804, 61115811, 61115891-61115907
358SYNE2140.993968345879171252072464443281, 64447436-64447438, 64447807, 64457774-64457815, 64469662-64469668, 64488117-64488120, 64488123, 64493405-64493409, 64494407-64494421, 64516424, 64519141-64519155, 64522832, 64522843, 64556372-64556375, 64556382, 64580284-64580289, 64596818, 64634018, 64675589, 64676756, 64676808, 64676812, 64679703-64679711, 64685225, 64692120
359ZFYVE26140.9961942257217829762068215260-68215261, 68229046-68229047, 68242683-68242692, 68244315-68244316, 68244319, 68257297-68257303, 68282643, 68282649-68282652
360PSEN1140.999287749287751140473659462
361VSX2140.89779005524862111108674706312-74706323, 74706329, 74706332-74706338, 74706344, 74706390-74706391, 74706394, 74706418-74706430, 74706434-74706443, 74706450-74706459, 74706471, 74706474-74706484, 74706487-74706488, 74706504, 74706514-74706522, 74706527-74706531, 74706557-74706569, 74706572-74706573, 74706603-74706607, 74706630-74706634
362EIF2B2140.9393939393939464105675470019-75470028, 75471474-75471481, 75471492-75471495, 75471503-75471507, 75471510, 75471519, 75471530-75471550, 75471579-75471580, 75471587-75471596, 75471602-75471603
363MLH3140.998165978908768436275483812, 75506686-75506689, 75506717-75506718, 75509119
364FLVCR2140.995572422517397158176045463-76045469
365TGFB3140.992736077481849123976437550-76437551, 76447001-76447003, 76447005-76447007, 76447009
366ESRRB140.970530451866445152776964609, 76964647-76964669, 76964672, 76964675-76964685, 76964709-76964714, 76964782, 76964788, 76964795
367POMT2140.95073235685752111225377745193-77745196, 77786782-77786832, 77786840-77786855, 77786871, 77786918-77786919, 77786922, 77786929-77786930, 77786939, 77786944, 77786963-77786987, 77787010-77787016
368TSHR140.996949891067547229581422056-81422059, 81610006-81610008
369GALC140.93731778425656129205888459318-88459396, 88459402-88459448, 88459466, 88459469, 88459473
370SPATA7140.997222222222225180088859807-88859809, 88883122, 88883130
371TTC8140.9909560723514214154889307478, 89337902-89337903, 89337906, 89337927, 89337933-89337934, 89343733-89343739
372FBLN5140.9903489235337813134792403405-92403417
373ATXN3140.9815837937384920108692537354-92537356, 92537360-92537361, 92537364-92537378
374VRK1140.9605373635600347119197304118-97304119, 97304122-97304123, 97304128-97304133, 97304139-97304147, 97304151, 97322519-97322544, 97326974
375AMN140.64170337738624881362103390135-103390139, 103390144, 103390150-103390151, 103394821, 103394842, 103394848, 103395118-103395121, 103395163, 103395166, 103395172, 103395202, 103395248-103395276, 103395284-103395286, 103395299, 103395466, 103395504, 103395507, 103395510-103395539, 103395541-103395543, 103395550, 103395562-103395565, 103395575-103395595, 103395765-103395787, 103395797-103395828, 103395837, 103396013-103396021, 103396039-103396042, 103396045-103396049, 103396271-103396287, 103396364, 103396368, 103396378, 103396389-103396390, 103396406, 103396502-103396664, 103396743-103396830, 103396913-103396918, 103396925-103396928, 103396931-103396932, 103396987-103396989, 103396997, 103397000-103397004, 103397008, 103397013-103397016
376INF2140.858933333333335293750105167911-105167913, 105167918, 105167928-105167949, 105167963-105167968, 105168085-105168093, 105169674-105169675, 105169763, 105169765, 105170259-105170261, 105173376-105173382, 105173596-105173599, 105173602, 105173643-105173676, 105173685-105173692, 105173718, 105173758-105173780, 105173783, 105173790-105173795, 105173801, 105173846-105174149, 105174156-105174195, 105174240-105174245, 105174324-105174339, 105177488, 105177491-105177498, 105179614-105179620, 105179633-105179641, 105180565, 105181132-105181134
377NIPA1150.8191919191919217999023052632, 23086234-23086411
378SNRPN150.984785615491011172325222953, 25222958-25222960, 25222963-25222968, 25222978
379UBE3A150.9836377473363843262825615750, 25615877-25615883, 25616251-25616257, 25616280-25616306, 25616409
380OCA2150.9860945570123235251728202838-28202840, 28263655, 28263665-28263669, 28263672, 28273161-28273164, 28326860-28326871, 28326909-28326915, 28326978-28326979
381TRPM1150.9970906068162914481231318369-31318370, 31320562, 31320582, 31320585, 31320588, 31320598-31320599, 31320602-31320603, 31320608, 31353645-31353646, 31353649
382SLC12A6150.9855198378221850345334527485, 34546714-34546745, 34547535-34547547, 34549895-34549896, 34553142, 34553145
383ACTC1150.9744268077601429113435086915-35086943
384SPRED1150.999250936329591133538614570
385IVD150.99921935987511128140698048
386CHST14150.79752431476569229113140763413-40763589, 40763659-40763665, 40763681, 40763782-40763784, 40763796-40763836
387CAPN3150.998774509803923244842652049, 42691731-42691732
388CDAN1150.87513572204126460368443017731, 43019895-43019917, 43019934-43019937, 43026524-43026528, 43028579-43028584, 43028592, 43028605-43028609, 43028612-43028624, 43028667-43028978, 43029211-43029300
389TTBK2150.9962516733601114373543067840, 43067846-43067850, 43067855-43067856, 43109273-43109275, 43109280-43109281, 43109284
390STRC150.96715465465465175532843893090, 43896255-43896259, 43896303-43896312, 43900150-43900156, 43902633, 43903367, 43905021-43905043, 43905076, 43905309-43905345, 43907745-43907751, 43908051, 43908541-43908548, 43910420-43910444, 43910863-43910910
391STRC150.99329983249581459744002829, 44004774, 44004782, 44004808
392STRC150.9871794871794925195044007198-44007213, 44007513, 44008003-44008010
393SPG11150.98567921440262105733244865846, 44876547-44876549, 44876562, 44888982-44888989, 44888992-44888996, 44892757, 44912445-44912486, 44914516-44914519, 44914523, 44914534, 44941133-44941134, 44941140, 44941149, 44941153-44941159, 44943707-44943708, 44955670-44955673, 44955705-44955724, 44955736
394DUOX2150.9694426511728142464745391668-45391674, 45391904, 45392373, 45393010, 45393013, 45398348-45398364, 45403384-45403398, 45403582-45403591, 45403602-45403636, 45403656, 45403659, 45403664-45403670, 45403680, 45403684, 45403697-45403701, 45403704-45403705, 45403709-45403717, 45403720, 45403723-45403732, 45403735-45403739, 45403744, 45403752, 45403757-45403758, 45403761, 45403780-45403783, 45404821, 45405191
395GATM150.992924528301899127245654339, 45670616-45670620, 45670628, 45670631, 45670651
396FBN1150.9974466109563622861648719893-48719895, 48737612-48737615, 48766756-48766759, 48766766, 48766769-48766774, 48788393, 48791209, 48936954, 48936957
397CEP152150.9949647532729125496549030500, 49036441-49036443, 49036447, 49036457, 49036521, 49036528-49036530, 49036540, 49044601, 49044605-49044608, 49044611, 49044614, 49044624, 49052370-49052371, 49052376-49052379
398CYP19A1150.998677248677252151251519977, 51520073
399TPM1150.969590643274852685563335118-63335130, 63335137-63335142, 63336014-63336016, 63336020-63336021, 63336024, 63349279
400PPIB150.872503840245788365164455057, 64455065-64455070, 64455076, 64455081-64455084, 64455093-64455157, 64455162-64455167
401CLN6150.911324786324798393668521840-68521922
402NR2E3150.995471014492755110472103130, 72103850, 72103854, 72103867, 72103874
403HCN4150.691583610188261114361273614865-73614870, 73614873-73614874, 73614877-73614892, 73614898-73614934, 73615012-73615072, 73615079-73615085, 73615093-73615150, 73615161-73615188, 73615204, 73615224-73615240, 73615288-73615313, 73615419, 73615449-73615498, 73615504-73615534, 73615575-73615615, 73615644-73615652, 73615661, 73615667-73615670, 73615887-73615929, 73616022-73616041, 73616055-73616089, 73616109, 73616124-73616125, 73616135, 73616141-73616146, 73616152, 73616156-73616178, 73616186, 73616526-73616529, 73616567-73616594, 73659861-73659866, 73659977-73659985, 73660074-73660611
404ETFA150.999001996007981100276580243
405PSTPIP1150.994404476418867125177325269-77325274, 77325279
406RPS17150.975490196078431040882823299, 82823386-82823393, 82824540
407RPS17150.97794117647059940883207642, 83207729-83207736
408FANCI150.998495109104596398789790940-89790944, 89849346
409POLG150.95913978494624152372089876428-89876452, 89876501, 89876599, 89876689, 89876694-89876696, 89876699, 89876777-89876853, 89876865-89876867, 89876921-89876957, 89876983-89876985
410MESP2150.64572864321608423119490319725-90319727, 90319730, 90319762, 90319772-90319774, 90319777-90319780, 90319783-90319795, 90319805-90320172, 90320222-90320230, 90320239-90320241, 90320277-90320279, 90320282-90320286, 90320372, 90320386-90320387, 90320473-90320479
411BLM150.997414198401511425491333910-91333917, 91337578, 91346830, 91346833
412VPS33B150.998921251348442185491551142, 91565391
413IGF1R150.97124756335283118410499192811-99192904, 99472787-99472788, 99473505, 99473516, 99473521-99473534, 99500631-99500635, 99500638
414HBZ160.34731934731935280429203891-204095, 204271-204338, 204393-204399
415HBM160.64788732394366150426216001-216003, 216006-216007, 216013-216021, 216027-216029, 216082, 216274, 216298-216348, 216351-216364, 216377-216392, 216409-216415, 216426-216445, 216449-216471
416HBA2160.9230769230769233429222913, 222926-222936, 223212-223229, 223267-223269
417GNPTG160.92919389978214659181401967-1402018, 1402240-1402241, 1402292-1402302
418CLCN7160.9305210918114116824181497032, 1497085-1497087, 1497514, 1497517-1497518, 1497561-1497562, 1498979-1498985, 1499075-1499085, 1524835-1524975
419IGFALS160.9052795031055918319321840601-1840614, 1840618-1840622, 1840633-1840645, 1840967-1841001, 1841040, 1841044-1841050, 1841109-1841117, 1841186-1841192, 1841220, 1841229-1841231, 1841553-1841558, 1841752-1841757, 1841760-1841761, 1841763-1841764, 1841767-1841777, 1841806, 1841999-1842005, 1842017-1842018, 1842064-1842072, 1842079-1842080, 1842083, 1842092-1842101, 1842117-1842118, 1842248-1842250, 1842371-1842389, 1842392, 1842401-1842404
420GFER160.564724919093852696182034220-2034477, 2034767-2034772, 2034783-2034784, 2034788, 2034791, 2034796
421TSC2160.988384955752216354242103395-2103398, 2103401-2103404, 2103409, 2103413-2103419, 2103428-2103431, 2108767, 2112558, 2112984, 2112987, 2114365-2114395, 2121863, 2121866, 2121924, 2121927, 2134438-2134441
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429ABAT160.99467731204258815038829638-8829639, 8829661, 8870236-8870237, 8870311, 8870329-8870330
430MYH11160.9968013468013519594015808813, 15811127-15811134, 15811152-15811153, 15835328, 15835331-15835333, 15839087, 15839092-15839094
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434OTOA160.95783132530124299622568214-22568248, 22584582-22584586, 22584612, 22584644
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437PALB2160.998034260039317356123640578-23640579, 23640588, 23646356-23646359
438CLN3160.996962794229314131728497707, 28497718-28497720
439TUFM160.9883040935672516136828857387, 28857402-28857403, 28857412, 28857418, 28857557-28857565, 28857570-28857571
440ATP2A1160.9903526280771829300628895955, 28909380-28909382, 28909391-28909394, 28912110, 28912113-28912120, 28912130-28912141
441CD19160.997007779772595167128946782-28946786
442PHKG2160.9213759213759296122130760142-30760231, 30764719, 30764732, 30764737-30764739, 30768309
443VKORC1160.975609756097561249231104728-31104730, 31105948-31105953, 31105956-31105958
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450RPGRIP1L160.999240121580553394853691439, 53691442, 53691470
451MMP2160.9697428139183160198355513395-55513405, 55513407, 55513414, 55513420, 55513423, 55513428-55513434, 55513444-55513447, 55513449-55513454, 55513458, 55513463-55513477, 55513481, 55513486-55513492, 55513510, 55513528, 55525742, 55530843
452BBS2160.999538319482921216656548476
453SLC12A3160.9964435822825711309356901098, 56901106, 56921837-56921842, 56921934, 56921937, 56926883
454COQ9160.99895506792059195757481429
455GPR56160.999031007751942206457684213-57684214
456CNGB1160.9957401490947816375657918214-57918218, 57918231-57918234, 57918250-57918255, 57918329
457TK2160.8852813852813910692466583841-66583905, 66583920-66583947, 66583970-66583972, 66584011, 66584014-66584015, 66584022, 66584026-66584031
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459LCAT160.9871504157218417132367976999-67977003, 67977044-67977050, 67977111-67977115
460CDH3160.9767068273092458249068679552-68679597, 68679618, 68725812-68725818, 68725825, 68725828-68725829, 68732168
461CDH1160.9815024537561349264968771319-68771366, 68857464
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464AARS160.999312005503962290770316655-70316656
465HP160.9967239967244122172091295, 72091307-72091308, 72091311
466GCSH160.7164750957854414852281129736-81129883
467GAN160.90468227424749171179481348719-81348885, 81388060-81388061, 81388218-81388219
468MLYCD160.68825910931174462148283932750-83933126, 83933142-83933143, 83933146, 83933151, 83933157, 83933161-83933177, 83933183, 83933192-83933205, 83933208-83933241, 83933245, 83933256-83933265, 83933267-83933268, 83948777
469LRRC50160.9944903581267212217884179082, 84179094-84179099, 84183930, 84199441-84199444
470FOXF1160.66052631578947387114086544176-86544238, 86544245-86544251, 86544259-86544324, 86544376, 86544387, 86544414-86544446, 86544505-86544509, 86544514, 86544516-86544519, 86544524-86544525, 86544530-86544536, 86544546-86544547, 86544553, 86544566-86544586, 86544589-86544601, 86544603-86544608, 86544665, 86544668, 86544687-86544716, 86544737-86544738, 86544758, 86544772, 86544789-86544790, 86544854, 86544858-86544866, 86544871-86544932, 86544942-86544956, 86544974-86544984, 86544994-86545003, 86545012-86545018, 86545105
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474APRT160.839779005524868754388878027-88878033, 88878228-88878307
475GALNS160.89165073295092170156988884451-88884493, 88884500-88884506, 88923166-88923285
476SPG7160.90745393634841221238889574826-89575008, 89576898, 89579413-89579423, 89598356, 89598364, 89598367-89598375, 89598395, 89614501-89614514
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478TUBB3160.86031042128603189135389989810-89989866, 90001283, 90001287-90001288, 90001592-90001613, 90001696-90001702, 90001712-90001715, 90001717-90001718, 90001775-90001785, 90001788-90001793, 90001795-90001820, 90001840, 90001896-90001945
479PRPF8170.99871575342466970081561573, 1577176-1577182, 1577185
480ASPA170.996815286624239423385041, 3402371-3402372
481CTNS170.99501246882793612033559823-3559825, 3560052-3560054
482CHRNE170.936572199730099414824802181-4802186, 4802353-4802402, 4802493-4802499, 4802634-4802638, 4802652, 4802766-4802784, 4804091-4804095, 4804427
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484ENO3170.99616858237548513054858480, 4858483-4858486
485PITPNM3170.9155555555555624729256358660-6358667, 6358669-6358673, 6358675-6358692, 6358697-6358720, 6358731-6358734, 6358741-6358743, 6358746, 6358749, 6358768-6358770, 6358775, 6358785, 6358790, 6358794-6358801, 6358807-6358854, 6358870-6358879, 6358881, 6358889, 6358901-6358963, 6360949-6360952, 6367614, 6374517, 6376024-6376031, 6382018-6382021, 6382024-6382026, 6387070-6387072, 6459705-6459726
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487CHRNB1170.977423638778223415067348480, 7348492-7348495, 7348617, 7350167-7350176, 7350183-7350192, 7357656, 7357659, 7357665-7357667, 7359257-7359259
488MPDU1170.97715053763441177447490487, 7490497-7490500, 7490508-7490511, 7490525, 7490534-7490540
489GUCY2D170.8402777777777852933127906366-7906798, 7906805-7906839, 7906846-7906871, 7906899, 7906915, 7906930-7906936, 7906988, 7906996-7907000, 7907170-7907175, 7907184, 7907228, 7907230, 7907353, 7915521-7915522, 7915537, 7915541, 7915873-7915875, 7919807, 7919811, 7919826
490ALOX12B170.977207977207984821067976197, 7976222-7976227, 7976265-7976268, 7976633, 7982787, 7982791-7982795, 7983095-7983097, 7983171-7983178, 7984435-7984436, 7984441, 7984449-7984458, 7984461-7984464, 7984467, 7990655
491ALOXE3170.977996254681654721368012574, 8013237-8013273, 8013305-8013306, 8013743, 8013772, 8013775, 8020274-8020277
492HES7170.272861356932154936788024889-8025340, 8025661, 8025670, 8025676-8025680, 8025686, 8025692-8025699, 8025710-8025716, 8025731-8025748
493MYH8170.9929480564155541581410293857, 10301921, 10302903, 10304643-10304679, 10317738
494MYH2170.9946790250600831582610424678-10424685, 10424691-10424700, 10427907-10427913, 10429172, 10429176-10429177, 10429180, 10431096, 10431102
495MYH3170.99106989524352582310534928-10534966, 10535255-10535256, 10535901-10535910, 10542698
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498COX10170.9797297297297327133214095306-14095312, 14110262, 14110271-14110279, 14110443-14110445, 14110456-14110462
499PMP22170.933747412008283248315163967-15163994, 15164004-15164005, 15164022-15164023
500TNFRSF13B170.99773242630385288216843767, 16843782
501FLCN170.999425287356321174017118600
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503ATPAF2170.988505747126441087017924462, 17924468, 17942218-17942225
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506UNC119170.6943291839557422172326875023, 26879356-26879575
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508SLC6A4170.9947173798203910189328543162-28543166, 28543213, 28543216-28543218, 28543221
509NF1170.98697183098592111852029422328-29422387, 29483118-29483129, 29509585, 29528439, 29546079-29546081, 29546084, 29546089-29546092, 29546107, 29554255, 29654523-29654530, 29654535, 29654548, 29662006-29662022
510HNF1B170.9814814814814831167436060999-36061005, 36061064-36061066, 36104657-36104663, 36104831-36104835, 36104838-36104840, 36104851-36104856
511TCAP170.98214285714286950437821636, 37821639, 37821643, 37821646-37821647, 37821650, 37822209-37822211
512KRT10170.84843304843305266175538975096, 38975099-38975100, 38975108-38975110, 38975122, 38975130, 38975138-38975143, 38975152, 38975160-38975410
513KRT13170.996368917937555137739657978, 39658747, 39658755, 39658758, 39658761
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609CYP4F22190.999373433583961159615648395
610JAK3190.93007407407407236337517940917-17940919, 17940929-17941001, 17941024-17941027, 17941312-17941313, 17941321-17941328, 17941331, 17941336-17941340, 17941353-17941406, 17941413-17941421, 17942140-17942149, 17942185-17942190, 17942197-17942209, 17945471, 17945490, 17945494-17945495, 17945500-17945501, 17949124, 17949131-17949134, 17950310-17950313, 17950379-17950383, 17953141-17953145, 17953303-17953306, 17953310, 17953315, 17953319-17953321, 17953860, 17953868-17953872, 17953878-17953885
611SLC5A5190.9855072463768128193217983253, 17983276, 17983283-17983285, 17983357, 17983360, 17984947, 17984963, 17984972-17984980, 17984991, 17984996, 17985004-17985009, 17994520-17994521
612IL12RB1190.9869281045751626198918171985, 18177476, 18179261, 18191782, 18191795-18191798, 18197570-18197587
613COMP190.77440633245383513227418895138-18895142, 18896483-18896512, 18896521-18896559, 18896570-18896580, 18897091, 18897094, 18899042, 18899053, 18899063, 18899118-18899128, 18899221-18899263, 18899274-18899282, 18899312-18899316, 18899404-18899416, 18899430, 18899437-18899464, 18899467-18899475, 18899482-18899507, 18899514-18899553, 18899693-18899699, 18899969-18899972, 18899986-18900003, 18900014-18900060, 18900082, 18900106, 18900751-18900833, 18900851-18900857, 18900865-18900911, 18900918-18900923, 18901659-18901673, 18901678, 18901696
614CEBPA190.22098421541318839107733792246-33792247, 33792251-33792280, 33792288-33792290, 33792348, 33792353-33792358, 33792376-33792381, 33792385-33792388, 33792393, 33792400, 33792504, 33792513, 33792527-33792528, 33792531, 33792541-33793320
615SCN1B190.947955390334574280735521725-35521764, 35524790, 35524794
616HAMP190.99607843137255125535775902
617MAG190.94683678894205100188135790493, 35790522, 35790554, 35790602-35790616, 35790633-35790658, 35790736, 35790750, 35791098-35791101, 35791104, 35791107, 35791110, 35791113-35791159
618PRODH2190.9788950962135334161136290981-36290982, 36293943, 36297485-36297488, 36303275-36303289, 36303306, 36303309-36303313, 36303316, 36303331, 36303334-36303337
619NPHS1190.94793344068706194372636326637, 36333133, 36336323-36336333, 36336342-36336344, 36336434, 36336437-36336440, 36336578-36336589, 36336599-36336697, 36336910-36336919, 36337045-36337086, 36339029, 36339565-36339572, 36340214
620TYROBP190.99705014749263133936399081
621SDHAF1190.5919540229885114234836486177-36486180, 36486186-36486187, 36486194, 36486197-36486206, 36486223-36486251, 36486258-36486266, 36486319-36486326, 36486335-36486383, 36486395-36486422, 36486438, 36486445
622WDR62190.9888451443569651457236545874-36545883, 36579998, 36590347, 36590357-36590367, 36594488-36594490, 36594493-36594496, 36595861-36595865, 36595908-36595912, 36595918-36595928
623RYR1190.941919693060798781511738931385-38931390, 38931397-38931445, 38931501, 38943617, 38943620, 38943636-38943638, 38943641-38943643, 38943651-38943654, 38948815, 38954150-38954164, 38956790-38956792, 38964323, 38964328-38964329, 38964332-38964339, 38964345-38964349, 38968465, 38968508-38968510, 38976346-38976354, 38976358-38976364, 38976674, 38976678-38976685, 38976793-38976794, 38980872-38980876, 38985103-38985109, 38985117-38985121, 38987506-38987519, 38987532, 38990345-38990376, 38993181-38993191, 38993210-38993215, 38993227, 38993231, 38993233-38993235, 38993242, 38993245, 38993313-38993337, 38993520-38993521, 38993529, 38993547, 38993554, 38997480-38997490, 38998379-38998392, 38998401-38998436, 39008208-39008243, 39013668, 39037099, 39037106-39037112, 39037156-39037166, 39055705, 39055723, 39055736, 39055739-39055740, 39055757-39056239, 39056277-39056280, 39056290-39056297, 39056306-39056313, 39056388
624ACTN4190.9608918128655107273639138424, 39138427-39138437, 39138442-39138450, 39138464, 39138472-39138479, 39138482-39138495, 39138506, 39138512, 39138516-39138522, 39138540-39138541, 39138544-39138547, 39214577-39214601, 39214623-39214629, 39214847-39214849, 39214852-39214857, 39214862, 39216469-39216473, 39219644
625DLL3190.78621432417878397185739993457-39993470, 39993473-39993478, 39993481-39993482, 39993485, 39993496-39993505, 39993508, 39993511, 39993527-39993669, 39993674, 39993680-39993683, 39993692-39993694, 39997723-39997732, 39997768-39997771, 39997779-39997917, 39997931-39997941, 39997950, 39997964, 39997972-39997978, 39997990, 39997997-39997998, 39998001-39998003, 39998009-39998022, 39998118-39998119, 39998122-39998127, 39998137-39998139, 39998180, 39998250-39998255
626PRX190.97127222982216126438640900730, 40900865, 40901110-40901114, 40901313-40901316, 40903027-40903030, 40903035-40903036, 40903043-40903048, 40903425-40903432, 40903435, 40903440-40903441, 40903451-40903459, 40903475, 40903630, 40909613-40909618, 40909627-40909630, 40909639-40909646, 40909668-40909671, 40909682-40909686, 40909703-40909706, 40909712-40909723, 40909728-40909759, 40909762-40909765, 40909769, 40913824
627TGFB1190.91133844842285104117341837013-41837014, 41837019-41837028, 41837035-41837037, 41837048-41837058, 41837061-41837084, 41854232, 41854248-41854258, 41854285-41854291, 41858658, 41858697-41858706, 41858709, 41858714, 41858800, 41858805, 41858808-41858810, 41858914-41858918, 41858921, 41858928-41858938
628BCKDHA190.9738415545590435133841903748, 41903788-41903806, 41916553, 41916557-41916558, 41916561, 41916569, 41929012-41929013, 41930478-41930485
629ATP1A3190.95622620989668161367842470787-42470817, 42470966, 42470971, 42470993-42470995, 42470999-42471004, 42471010, 42471018, 42471029-42471030, 42471046, 42471050, 42471109, 42471166-42471167, 42471177-42471181, 42471254, 42471314, 42471317-42471337, 42471341-42471344, 42471347, 42471355-42471363, 42471368-42471374, 42480568-42480603, 42480617, 42480621, 42480664-42480670, 42480713-42480718, 42489294, 42489333-42489334, 42490359, 42498223-42498228
630ETHE1190.985620915032681176544011012, 44031268-44031269, 44031277-44031282, 44031289, 44031298
631BCAM190.9528351881293189188745312395-45312396, 45312399-45312407, 45312423, 45312427-45312435, 45314510-45314511, 45317454, 45321840, 45321849-45321853, 45321872, 45321878, 45322116, 45322419, 45322941-45322953, 45323974, 45323980-45323981, 45324031-45324050, 45324060-45324069, 45324075-45324079, 45324173, 45324176-45324178
632APOE190.6226415094339636095445411061-45411063, 45411066-45411071, 45411077-45411078, 45411790-45411836, 45411865-45411911, 45411933-45411971, 45411982-45411984, 45412034-45412060, 45412072-45412183, 45412197-45412203, 45412208, 45412227-45412231, 45412233-45412249, 45412251-45412257, 45412260, 45412345-45412350, 45412360-45412368, 45412374, 45412467-45412471, 45412493-45412507
633BLOC1S3190.4893267651888331160945682575, 45682581-45682585, 45682595, 45682607-45682611, 45682758-45683011, 45683032, 45683046-45683047, 45683050-45683055, 45683060, 45683064-45683098
634ERCC2190.9627682873412285228345856390-45856394, 45856397, 45856400, 45860610, 45867083-45867101, 45867112-45867115, 45867119-45867120, 45867295-45867322, 45867341-45867362, 45873484, 45873487
635OPA3190.941068139963173254346032380-46032390, 46032394-46032401, 46032405-46032406, 46032412-46032418, 46032423-46032425, 46087936
636SIX5190.72252252252252616222046268966-46268975, 46268982, 46269301, 46269686, 46269703, 46269716-46269750, 46270009-46270015, 46270147-46270167, 46270178-46270186, 46270215-46270216, 46270222, 46271410-46271440, 46271447-46271494, 46271535-46271541, 46271561-46271623, 46271687-46271689, 46271701-46271702, 46271708-46271719, 46271722-46271724, 46271726-46271728, 46271731, 46271749-46272102
637DMPK190.92116402116402149189046273776-46273777, 46273783-46273787, 46273794, 46274284-46274286, 46274289, 46274296, 46274305, 46274317, 46280769, 46281430-46281432, 46285470-46285475, 46285487-46285610
638FKRP190.53091397849462698148847258783-47258789, 47258814-47258839, 47259060-47259073, 47259077, 47259090-47259126, 47259130-47259132, 47259135-47259145, 47259150-47259157, 47259160, 47259169-47259177, 47259180-47259189, 47259229-47259541, 47259548-47259580, 47259593-47259708, 47259717-47259761, 47259775, 47259835-47259843, 47260044-47260089, 47260113-47260119, 47260166
639CRX190.963690048342627-48342653, 48342658, 48342662, 48342670, 48342789, 48342792-48342796
640DBP190.6339468302658535897849134183-49134188, 49136879, 49138837-49139158, 49139170, 49139221-49139223, 49139228-49139230, 49139238-49139242, 49140190-49140204, 49140210, 49140213
641BCAT2190.998303647158612117949314249-49314250
642GYS1190.999096657633242221449473889, 49473915
643MED25190.94786096256684117224450321616-50321620, 50321623, 50321626-50321632, 50333140, 50333146-50333148, 50333154-50333157, 50333442-50333445, 50333776-50333778, 50333781, 50333785, 50333793, 50334075-50334080, 50334083-50334084, 50334091-50334108, 50334111-50334112, 50334124-50334144, 50335404-50335406, 50338414-50338421, 50339193, 50339493, 50339504, 50339545, 50339548, 50339553, 50339557-50339558, 50340121, 50340124-50340125, 50340129-50340141, 50340148, 50340151
644PNKP190.92401021711367119156650364891-50364926, 50365029-50365044, 50365135, 50365348, 50365358-50365362, 50365632-50365640, 50365647-50365661, 50365831, 50365833-50365845, 50365849-50365854, 50365857, 50365860-50365861, 50365864, 50365961, 50365985-50365995
645MYH14190.96187203403698233611150713623-50713692, 50713709-50713715, 50713895, 50714001, 50714014, 50714019, 50747510-50747517, 50747520, 50753869, 50762401-50762419, 50762436, 50762439, 50764746, 50764764-50764765, 50764787-50764814, 50764852-50764871, 50766581, 50766588, 50766592-50766594, 50770147, 50770211-50770213, 50770218-50770219, 50770222-50770228, 50770264-50770265, 50779409, 50780104-50780112, 50780137-50780145, 50780153, 50781442-50781444, 50785024-50785026, 50785036, 50785039, 50789902-50789906, 50789917-50789925, 50795558-50795564, 50796494
646KCNC3190.535180299032541057227450823503-50823606, 50823991, 50824010-50824013, 50824026, 50826276-50826277, 50826287, 50826290, 50826300, 50826343-50826377, 50826399, 50826404, 50826418, 50826421-50826422, 50826432, 50826439, 50826442-50826449, 50826459-50826468, 50826473-50826479, 50826498, 50826546-50826560, 50826564-50826565, 50826571, 50826645, 50826885, 50826903-50826910, 50831470-50831477, 50831481, 50831483-50831484, 50831489-50831490, 50831502-50832072, 50832078-50832339
647KLK4190.934640522875825076551411857, 51412508, 51412519-51412524, 51412602, 51412607, 51412614-51412619, 51412624-51412629, 51412634-51412646, 51412652-51412666
648ETFB190.9750240153698426104151850194-51850207, 51856432-51856443
649NLRP12190.9830508474576354318654297305-54297308, 54304518, 54312876, 54312878-54312883, 54312893, 54312897, 54313093, 54313206, 54313341-54313348, 54313645-54313649, 54313660-54313667, 54313851, 54314083-54314090, 54314098, 54314380-54314381, 54314389, 54314436-54314439
650PRKCG190.87058261700096271209454385749-54385782, 54385788, 54385791-54385798, 54385802, 54385808-54385820, 54385829-54385835, 54385838-54385848, 54385858, 54385876, 54385884, 54387484-54387485, 54387488-54387491, 54392893, 54392899, 54392904-54392907, 54392931-54392966, 54392972-54392983, 54393140-54393271, 54410071
651PRPF31190.98818150054627880-54627881, 54629921, 54631549-54631563
652TSEN34190.8070739549839218093354695216-54695293, 54695306, 54695310-54695314, 54695317, 54695326-54695351, 54695354-54695356, 54695360-54695362, 54695375-54695381, 54695385, 54695396-54695440, 54696066-54696068, 54696071, 54696074, 54696080, 54696083-54696085, 54696097
653NLRP7190.9922928709055924311455450767, 55450950-55450956, 55450959, 55451050, 55451167-55451173, 55453058-55453064
654TNNT1190.897338403041838178955648479, 55648565-55648580, 55652266-55652273, 55652296-55652328, 55656917, 55657810-55657818, 55657830, 55657834, 55658052-55658057, 55658063-55658067
655TNNI3190.977011494252871460955667585, 55667601-55667605, 55667614, 55667631-55667633, 55667688-55667691
656AURKC190.99247311827957793057742641-57742647
657TPO20.8797287651677433728021480866-1480867, 1480872-1480882, 1480902-1480921, 1480942-1480961, 1480964-1480965, 1480972-1480987, 1480998-1481004, 1481033-1481082, 1481088-1481106, 1481114-1481125, 1481132-1481141, 1481158-1481159, 1481164-1481175, 1481185-1481190, 1481196, 1481200, 1481213-1481274, 1481285, 1481291-1481293, 1481314-1481354, 1481369-1481376, 1488411-1488430, 1520710-1520720
658RPS720.88034188034188705853623205-3623274
659KLF1120.9714100064977344153910183844-10183885, 10188461, 10188529
660LPIN120.9966329966339267311955323-11955330, 11955345
661MYCN20.70465949820789412139516082322, 16082377-16082404, 16082440-16082445, 16082559-16082935
662MATN320.85010266940452219146120212174-20212392
663APOB20.992258252994451061369221255269-21255291, 21265270, 21266736-21266817
664POMC20.6691542288557226680425384127-25384162, 25384207-25384253, 25384354-25384364, 25384392-25384398, 25384404-25384531, 25384585-25384621
665HADHB20.9894736842105315142526486327-26486328, 26507771-26507772, 26507817-26507825, 26508341, 26508344
666OTOF20.95045045045045297599426695387-26695394, 26696968, 26697381-26697433, 26697442-26697459, 26697490-26697493, 26697496, 26697527-26697535, 26699100, 26699138-26699139, 26699759-26699911, 26700042, 26700045, 26700053-26700056, 26700063, 26700105-26700106, 26700109, 26700114-26700144, 26702468-26702473
667EIF2B420.99693627450985163227592858-27592861, 27592864
668C2orf7120.9831911042151565386729287933, 29293616-29293645, 29293652-29293669, 29293920-29293929, 29294059-29294060, 29294103, 29296531-29296533
669ALK20.94838577010076251486329419636-29419668, 29451755-29451792, 29754864, 29754870, 29754888, 29754893-29754899, 29754908-29754913, 30143233-30143278, 30143308-30143314, 30143382-30143431, 30143441-30143490, 30143501-30143511
670XDH20.999500249875062400231560602, 31572976
671SRD5A220.99212598425197676231805839, 31805879-31805880, 31805883-31805885
672SPAST20.79956780118855371185132288902, 32288945-32288951, 32288959-32288962, 32288972, 32288975, 32288994-32289315, 32341207-32341236, 32341241, 32362217, 32379500-32379501, 32379503
673CYP1B120.83946078431373262163238301489, 38301513, 38301679, 38301769-38301775, 38301852-38301858, 38301868, 38301878-38301889, 38301963-38301977, 38301985, 38301993, 38301998-38302003, 38302013-38302018, 38302023-38302025, 38302029-38302035, 38302039-38302045, 38302055-38302071, 38302082-38302104, 38302127, 38302141-38302157, 38302164-38302173, 38302177, 38302197-38302199, 38302208-38302209, 38302212-38302213, 38302219-38302225, 38302231-38302235, 38302291-38302300, 38302321, 38302324, 38302337-38302338, 38302361-38302398, 38302406-38302451
674SOS120.9925037481259430400239222434, 39239344-39239348, 39239357-39239362, 39283993-39283995, 39347542-39347545, 39347550-39347560
675ABCG520.973926380368151195644055148, 44058929-44058942, 44058947-44058956, 44058966-44058971, 44058978-44058982, 44059165-44059168, 44059194-44059204
676ABCG820.996043521266078202244079621-44079625, 44102367-44102369
677LRPPRC20.9801672640382383418544128618, 44145164-44145176, 44161353-44161360, 44203293-44203294, 44207056, 44222942, 44222946-44222948, 44222955-44222957, 44222989, 44223009-44223048, 44223069-44223078
678SLC3A120.999028182701652205844507996, 44547338
679SIX320.7577577577577624299945169244-45169268, 45169280, 45169300-45169399, 45169422-45169442, 45169445-45169450, 45169521-45169528, 45169531, 45169534, 45169540-45169545, 45169567, 45169572-45169575, 45169588-45169591, 45169624, 45169636, 45169641, 45169649, 45169653, 45169673-45169680, 45170033, 45171749-45171757, 45171771-45171774, 45171781-45171782, 45171785-45171791, 45171802-45171803, 45171826-45171838, 45171842, 45171844, 45171868-45171878
680EPCAM20.99047619047619994547596653, 47596656-47596658, 47596666, 47596687-47596688, 47601097-47601098
681MSH220.9893048128342230280547639583-47639587, 47639645-47639655, 47641481-47641487, 47693891-47693897
682MSH620.93607641440118261408348010373-48010632, 48032757
683LHCGR20.9542857142857196210048982650-48982686, 48982733-48982788, 48982806, 48982809-48982810
684NRXN120.94689265536723235442550149144-50149147, 50149305, 50280432, 50758479, 50765553-50765554, 50765565, 50765571, 51254657-51254659, 51254667, 51254691, 51254706-51254707, 51254751-51254757, 51254793-51254801, 51254896-51254902, 51254911-51254952, 51255043-51255074, 51255083-51255131, 51255147-51255158, 51255222-51255233, 51255252-51255256, 51255264-51255267, 51255278-51255293, 51255343-51255344, 51255350-51255352, 51255356, 51255359-51255367, 51255388-51255391, 51255398, 51255403, 51255406
685EFEMP120.9770580296896134148256094250-56094251, 56094255-56094263, 56094273-56094274, 56094282, 56102125, 56102128-56102129, 56103758-56103766, 56103790-56103796, 56144945
686FANCL20.9911347517730510112858390196-58390197, 58390200, 58392891-58392897
687ATP6V1B120.9922178988326812154271163097-71163101, 71163105-71163110, 71190384
688MCEE20.99058380414313553171337100-71337104
689DYSF20.9962264150943424636071693973-71693983, 71694004-71694007, 71694012-71694015, 71801441-71801444, 71894577
690SPR20.6183206106870230078673114562-73114861
691ALMS120.991442738323741071250473613023-73613032, 73613035, 73613037-73613046, 73613049, 73613052-73613071, 73613074, 73613082-73613083, 73613086-73613099, 73613110-73613115, 73613276-73613281, 73651699-73651718, 73676492, 73679729-73679732, 73746944, 73786122-73786123, 73786131, 73828339-73828345
692DGUOK20.99880095923261183474166130
693SLC4A520.9967779730521411341474479384, 74480113, 74489323, 74513014-74513021
694DCTN120.9908782903309935383774590479, 74590511-74590520, 74590529-74590535, 74593669, 74595120-74595121, 74595159, 74598129, 74598131-74598135, 74598763, 74598765-74598766, 74598790-74598792, 74605372
695MOGS20.9749403341288863251474688451, 74689086, 74690043, 74692126-74692132, 74692135-74692136, 74692143-74692148, 74692157, 74692191-74692192, 74692256-74692258, 74692261-74692263, 74692295, 74692299-74692305, 74692331-74692336, 74692349-74692353, 74692357-74692373
696HTRA220.88307915758896161137774757139-74757147, 74757158-74757192, 74757230-74757232, 74757240, 74757267, 74757272, 74757275, 74757306, 74757309, 74757348, 74757351-74757352, 74757355-74757367, 74757370-74757371, 74757376-74757388, 74757397-74757421, 74757431-74757479, 74757547-74757548, 74757568
697SUCLG120.9827089337175818104184660499, 84668423, 84668430, 84668437-84668440, 84670459, 84686314, 84686318-84686320, 84686324-84686325, 84686329, 84686335-84686337
698GGCX20.9771629336846752227785778710, 85780557-85780558, 85781396-85781397, 85781404, 85781416-85781424, 85783376-85783377, 85785672, 85788518-85788551
699SFTPB20.986910994764415114685889190, 85890530, 85892790-85892793, 85895262, 85895268-85895272, 85895277-85895278, 85895287
700REEP120.947194719471953260686564602-86564633
701EIF2AK320.92599224112205248335188926485-88926514, 88926541-88926575, 88926582-88926713, 88926721-88926770, 88926792
702RPIA20.980769230769231893688991268-88991270, 88991277-88991287, 88991290-88991292, 88991295
703TMEM12720.868898186889829471796930893, 96930913-96930935, 96930973-96930975, 96930981-96930985, 96930988-96930993, 96930996-96931001, 96931012-96931013, 96931040-96931041, 96931047-96931056, 96931084-96931119
704SNRNP20020.998908126657317641196950245, 96950977, 96950984, 96955047-96955048, 96967352, 96967356
705ZAP7020.93763440860215116186098340608, 98340635, 98340722-98340725, 98340747-98340793, 98340814-98340857, 98340870, 98340873-98340875, 98341659-98341662, 98349666-98349675, 98349763
706RANBP220.980258397932821919675109336063, 109336069-109336077, 109336084, 109336089-109336091, 109336111-109336113, 109336117, 109345588-109345589, 109352606-109352636, 109357110-109357116, 109363192-109363194, 109363200, 109363214, 109363227, 109363232-109363233, 109367984-109367989, 109368074-109368110, 109369454-109369469, 109371714, 109378557, 109378581, 109378622-109378624, 109378630, 109382787-109382793, 109383268-109383274, 109383315-109383321, 109383971-109383998, 109384628-109384634, 109388261, 109399087, 109399236
707NPHP120.98574237954769292034110917732-110917737, 110917743-110917753, 110922638-110922640, 110922653, 110922661, 110936034-110936040
708MERTK20.97066666666667883000112656313-112656373, 112740491-112740492, 112740495-112740505, 112740509-112740520, 112740523, 112786439
709PAX820.97856614929786291353113999219-113999224, 113999247-113999269
710GLI220.804872925855919294761121555009-121555044, 121708998, 121709013, 121712922-121712960, 121713001-121713005, 121726296, 121726304, 121726307, 121726447, 121726486, 121728025-121728026, 121728090-121728104, 121728126-121728154, 121728161-121728182, 121729591-121729634, 121745789, 121745815-121745822, 121745833-121745852, 121745856, 121745863, 121745874-121745884, 121745903, 121745910, 121745913-121745915, 121745970, 121745988-121745995, 121746013-121746563, 121746607, 121746630-121746637, 121746653-121746656, 121746698-121746721, 121746770, 121746793-121746836, 121747051-121747056, 121747164-121747171, 121747184-121747185, 121747323-121747329, 121747429, 121747660-121747663, 121747668-121747673, 121747687-121747693
711BIN120.98989898989899181782127808394, 127808401, 127808415, 127808767-127808770, 127808773, 127808776, 127808781, 127808795, 127808805, 127809889, 127816632, 127816638-127816640, 127834203
712PROC20.875180375180381731386128178935-128178940, 128180493-128180517, 128180610-128180745, 128180925-128180926, 128180962, 128183792, 128183797, 128186172
713CFC120.75892857142857162672131279062-131279065, 131279648, 131279673, 131280363-131280477, 131280777, 131280781, 131280784, 131280809-131280834, 131285310-131285319, 131285322, 131285428
714RAB3GAP120.99626612355737112946135815595, 135878464, 135887585, 135922173-135922180
715LCT20.9993084370677745784136558243, 136562357, 136562362, 136594649
716MCM620.98053527980535482466136615468-136615469, 136616920-136616957, 136616964, 136633886-136633889, 136633903-136633905
717ZEB220.97997256515775733645145274845-145274917
718MMADHC20.995510662177334891150436093-150436094, 150436097, 150438687
719NEB20.997346550515675319974152387533, 152417761-152417762, 152421558, 152432743-152432744, 152432794-152432812, 152432827-152432829, 152432845-152432850, 152432854-152432855, 152470903-152470905, 152512957, 152563421-152563425, 152582067-152582074
720CACNB420.9532949456174731563152698474-152698477, 152698527-152698531, 152732991, 152955463-152955525
721ACVR120.9947712418300781530158636914, 158636923-158636929
722SCN2A20.98438019275507946018166170575, 166170579, 166171981-166172011, 166198821-166198827, 166211135-166211174, 166221714, 166223848-166223849, 166234115, 166237618, 166237621-166237622, 166237644-166237648, 166237671-166237672
723GALNT320.9973711882229251902166621432, 166621447-166621450
724SCN1A20.99666499916625205997166866314-166866316, 166866321-166866323, 166901785, 166903303, 166915126-166915137
725SCN9A20.99747219413549155934167060973-167060974, 167083169, 167083178, 167083197, 167089916, 167089945-167089948, 167134756, 167134776, 167145142, 167168086, 167168093
726SLC25A1220.99312714776632142037172671699-172671701, 172750713-172750715, 172750717-172750724
727ITGA620.944444444444441823276173292517-173292698
728CHRNA120.9985443959243121374175618393, 175618396
729CHN120.9934782608695791380175689225, 175869623-175869627, 175869638-175869640
730HOXD1320.733527131782952751032176957619-176957841, 176957858-176957868, 176957876, 176957879-176957880, 176957891-176957909, 176957920, 176957961-176957971, 176957977, 176957980, 176957984, 176957987-176957989, 176958149
731AGPS20.947900859888721031977178257528-178257537, 178257561-178257564, 178257602-178257607, 178257610-178257613, 178257617-178257627, 178257640-178257643, 178257705-178257708, 178257716-178257717, 178257721, 178257725-178257729, 178257733-178257734, 178257737-178257740, 178257744-178257747, 178257752-178257754, 178346831-178346851, 178362438-178362440, 178362445-178362447, 178362478-178362483, 178362490, 178364346, 178364349-178364352
732PRKRA20.9214437367303674942179312263-179312271, 179315693-179315757
733TTN20.99855358710398145100248179392339, 179392342-179392347, 179392354, 179404338, 179404341, 179412742-179412746, 179416410, 179418658, 179419441-179419444, 179422666-179422667, 179425481-179425482, 179434375, 179434389-179434394, 179434406, 179437163-179437166, 179446827-179446829, 179446845, 179446850-179446856, 179447804, 179447817, 179464015-179464017, 179466797, 179468900-179468902, 179471917-179471919, 179499108-179499109, 179502106, 179502129, 179514898-179514905, 179516429, 179517222, 179538383-179538390, 179543150, 179565848, 179575878, 179585675, 179597396, 179633493-179633494, 179634440, 179639658-179639664, 179643637-179643672, 179648803, 179656833, 179659663, 179659677, 179659680-179659686, 179659857
734CERKL20.99249530956848121599182409467-182409468, 182430841, 182521513, 182521602, 182521607, 182521612, 182521615-182521618, 182521668
735COL3A120.973415132924341174401189849934, 189849937, 189850459-189850462, 189853339, 189853342, 189854135-189854164, 189858999-189859003, 189859009-189859010, 189859524-189859526, 189860448, 189860460-189860462, 189860465, 189860499, 189860851-189860875, 189861200, 189861210, 189867765, 189871136-189871142, 189871663-189871681, 189872613, 189872616-189872617, 189872623-189872627, 189872632
736COL5A220.971111111111111304500189906408-189906415, 189909948-189909952, 189910540-189910544, 189910572-189910578, 189910608-189910611, 189914122, 189915376, 189916095-189916107, 189916156-189916194, 189916921-189916927, 189925480, 189929311-189929314, 189932775-189932803, 189932952-189932956, 189933577
737SLC40A120.9994172494172511716190426719
738PMS120.99285459092533202799190670397-190670404, 190718752, 190718782, 190719086, 190719110, 190719637, 190728722, 190728728-190728730, 190732562, 190732568-190732569
739STAT120.99067909454061212253191841740-191841741, 191843651-191843652, 191859787, 191859799, 191859893-191859901, 191859908-191859913
740HSPD120.97502903600465431722198351801-198351843
741CASP820.99257884972171121617202131205-202131207, 202149625-202149627, 202149653-202149657, 202149664
742ALS220.99396863691194304974202574733-202574745, 202589099-202589105, 202614486-202614492, 202626390-202626392
743BMPR220.99615014436959123117203332254-203332257, 203332339, 203379661, 203407124, 203424597-203424601
744ICOS20.998333333333331600204820453
745NDUFS120.9967948717948772184206992589-206992592, 207017209-207017211
746FASTKD220.99109235818097192133207652746-207652747, 207652749-207652752, 207652755-207652763, 207652810-207652811, 207652814, 207652869
747ACADL20.9922660479505101293211089911, 211089925-211089928, 211089931-211089935
748CPS120.9984454807905874503211456649, 211456651-211456652, 211459323, 211504782-211504783, 211507223
749ABCA1220.99165382639959657788215797419-215797427, 215798870-215798876, 215798879, 215798889-215798895, 215812245, 215840543-215840555, 215843075, 215848559-215848566, 215851288-215851290, 215854180-215854184, 215854340, 215880338-215880344, 215884330, 215901742
750SMARCAL120.99057591623037272865217297474, 217315612-217315618, 217315633, 217329366-217329368, 217340078, 217347550-217347557, 217347564-217347569
751PNKD20.98963730569948121158219204553-219204555, 219204563-219204571
752BCS1L20.9936507936507981260219527278, 219527282, 219527290, 219527293, 219527322-219527325
753CYP27A120.98997493734336161596219646966-219646972, 219647060, 219647108-219647114, 219679740
754WNT10A20.753588516746413091254219745720-219745724, 219745740-219745767, 219745771-219745773, 219745783, 219745787-219745795, 219745799-219745800, 219745804-219745825, 219757511-219757549, 219757555-219757569, 219757578-219757584, 219757594, 219757597-219757599, 219757605, 219757614-219757616, 219757619, 219757623-219757631, 219757660-219757743, 219757752-219757789, 219757839-219757843, 219757845, 219757857-219757860, 219757866-219757882, 219757897-219757907
755DES20.77211606510973221413220283185-220283189, 220283195-220283460, 220283569-220283599, 220283620, 220283646, 220283651, 220283662, 220283674, 220283703, 220283707-220283717, 220283724, 220283735, 220283738
756OBSL120.8024951678088211245691220416266-220416271, 220416277-220416323, 220416332-220416340, 220416348-220416349, 220416352, 220416386, 220416396-220416467, 220416482-220416499, 220416834, 220416837, 220416864-220416867, 220416872-220416873, 220417258-220417419, 220417593, 220417598, 220417602-220417623, 220417627, 220417634-220417655, 220417674, 220417683, 220417715, 220417718, 220420950, 220421434-220421435, 220423016, 220432921-220432927, 220434974-220434977, 220434980-220434989, 220434999, 220435004-220435005, 220435007, 220435069-220435073, 220435081-220435084, 220435105, 220435247-220435954
757PAX320.99209486166008121518223096932, 223161889, 223163261-223163270
758COL4A420.99624802527646195064227872849-227872850, 227886801-227886809, 227886815, 227920722-227920725, 227942652, 227942679-227942680
759COL4A320.972671055256331375013228029451-228029471, 228029481-228029497, 228029501, 228029507, 228029510, 228102698, 228102702-228102708, 228102711-228102713, 228128583, 228137719, 228137722-228137724, 228142248-228142269, 228147142, 228153924-228153955, 228153963-228153964, 228163438-228163446, 228163461-228163464, 228163474, 228163483, 228163487, 228163512-228163518
760CHRND20.99099099099099141554233390934, 233394702, 233398682, 233398685-233398691, 233398702-233398705
761CHRNG20.98262548262548271554233407653, 233409245-233409257, 233409267-233409270, 233409277, 233409533-233409537, 233409592, 233409595-233409596
762UGT1A120.97940074906367331602234668950-234668954, 234668957-234668959, 234668963-234668970, 234668975, 234668981-234668983, 234669075-234669087
763COL6A320.98982588630166979534238244864-238244868, 238244877-238244878, 238244888-238244894, 238244963, 238244967, 238249095-238249101, 238249108, 238249717, 238250795, 238274422-238274428, 238277223, 238280474-238280477, 238280485, 238283089-238283094, 238283103-238283110, 238283113, 238283427-238283436, 238283444-238283457, 238287527, 238287538-238287554, 238287566
764AGXT20.94826123833757611179241808343-241808370, 241816968-241817000
765D2HGDH20.777777777777783481566242674640-242674654, 242674662-242674666, 242674670-242674677, 242674687-242674689, 242674695-242674698, 242674710-242674792, 242674800-242674806, 242674843-242674871, 242674924-242674925, 242674928, 242689578-242689596, 242707164-242707186, 242707193-242707240, 242707259, 242707262, 242707286-242707384
766C20orf54200.9971631205673841410741717, 744345-744346, 745977
767AVP200.242424242424243754953063276-3063448, 3063623-3063824
768PANK2200.7553998832457741917133869792, 3869865-3869913, 3869919-3870040, 3870064, 3870069-3870110, 3870128-3870140, 3870155-3870158, 3870179-3870323, 3870342-3870375, 3888609-3888616
769FERMT1200.9921337266471620346088207-6088211, 6088219-6088220, 6088226-6088233, 6100145
770JAG1200.96992070002734110365710639301, 10653561-10653567, 10653587-10653601, 10653609-10653614, 10654098-10654178
771C20orf7200.9865125240847814103813782172, 13782240, 13782269-13782280
772THBD200.68171296296296550172823028978, 23029127, 23029188, 23029201-23029204, 23029274-23029323, 23029329, 23029332-23029336, 23029385, 23029388-23029389, 23029392-23029393, 23029403-23029415, 23029419, 23029443-23029491, 23029497-23029775, 23029785, 23029795, 23029810-23029866, 23029874-23029883, 23029901-23029912, 23029955, 23029961, 23029964-23029976, 23030015-23030018, 23030024-23030032, 23030045-23030055, 23030060, 23030106-23030124
773SNTA1200.82542819499341265151832031145-32031148, 32031166-32031426
774GSS200.998596491228072142533533850-33533851
775GDF5200.9568393094289565150634022381-34022417, 34022431-34022437, 34025115-34025118, 34025126, 34025132-34025133, 34025138, 34025272-34025284
776SAMHD1200.9787347155768240188135545163, 35547884-35547886, 35579852-35579879, 35579883, 35579902-35579906, 35579959, 35579966
777HNF4A200.997894736842113142543043283, 43043286, 43052777
778ADA200.9615384615384642109243257768-43257776, 43280216-43280248
779CTSA200.9886439545758217149744520217, 44520236-44520240, 44520249-44520258, 44523642
780SLC2A10200.9932349323493211162645338376-45338379, 45354882, 45354885-45354886, 45354891-45354894
781SALL4200.9750158127767279316250407692, 50408352-50408356, 50408359, 50418818-50418845, 50418852-50418895
782PCK1200.99839486356343186956137876-56137878
783VAPB200.908469945355196773256964516-56964573, 57014071-57014079
784STX16200.989775051124741097857244451-57244456, 57244459, 57246232, 57246235-57246236
785GNAS200.98102981029811473857415323-57415330, 57415344, 57415688-57415691, 57415694
786GNAS200.88278741168915365311457428958, 57429085-57429086, 57429094, 57429273, 57429334, 57429394-57429398, 57429401-57429402, 57429409-57429416, 57429425-57429426, 57429430, 57429464-57429502, 57429614-57429658, 57429673-57429698, 57429703-57429704, 57429717-57429795, 57429814-57429840, 57429854, 57429856-57429861, 57429948-57429956, 57429972, 57429980-57429986, 57429997, 57429999, 57430004-57430006, 57430049-57430060, 57430071-57430119, 57430143-57430152, 57430161, 57430167-57430172, 57430174, 57430185, 57430251-57430256, 57430285-57430286, 57430328-57430331, 57430362, 57430375
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790SOX18200.0632034632034631082115562679519-62679523, 62679535-62679569, 62679580-62679624, 62679630-62679672, 62679712, 62679721-62680315, 62680512-62680869
791APP210.9671422395157876231327253981, 27264034-27264050, 27284162, 27394178-27394179, 27484449-27484463, 27542883-27542887, 27542890-27542917, 27542928-27542934
792BACH1210.999547715965631221130715041
793SOD1210.877419354838715746533032083-33032093, 33032103-33032142, 33039596, 33039602-33039606
794IFNGR2210.9280078895463573101434775850-34775922
795KCNE2210.99731182795699137235742835
796KCNE1210.9974358974359139035821827
797RCAN1210.6613965744400525775935895898-35895902, 35987059-35987310
798RUNX1210.82605682605683251144336164432-36164477, 36164509, 36164546-36164558, 36164575-36164613, 36164693-36164711, 36259186-36259219, 36259225-36259229, 36259239-36259242, 36259245, 36259274, 36259302-36259306, 36259311-36259393
799CLDN14210.98888888888889872037833280-37833281, 37833292, 37833307, 37833818-37833821
800HLCS210.998624484181573218138308831, 38308841-38308842
801CBS210.99879227053142165644492251-44492252
802CSTB210.777777777777786629745196085-45196150
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804ITGB2210.92640692640693170231046308608-46308739, 46308745-46308764, 46308788-46308792, 46308806-46308810, 46320359-46320365, 46321412
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806COL6A1210.93909944930353188308747401768, 47401772, 47401783-47401794, 47401799-47401811, 47401817, 47401828-47401832, 47401837-47401839, 47407539-47407548, 47407551, 47410172-47410188, 47410196-47410198, 47419592-47419606, 47420247, 47420673-47420678, 47422200, 47422545-47422550, 47423305-47423351, 47423399-47423400, 47423447-47423453, 47423483-47423497, 47423509, 47423514-47423518, 47423684-47423698
807COL6A2210.91176470588235270306047531453-47531456, 47531471, 47531893-47531927, 47532278-47532313, 47532339-47532345, 47540446, 47540453, 47545390, 47545699-47545726, 47545767-47545776, 47545820-47545829, 47545866-47545873, 47545933-47545981, 47552031-47552051, 47552068-47552083, 47552165-47552167, 47552240-47552242, 47552326-47552360, 47552466
808COL6A2210.821637426900586134247552240-47552242, 47552326-47552360, 47552466-47552472, 47552474-47552478, 47552481-47552491
809FTCD210.87453874538745204162647565340-47565365, 47565378-47565400, 47565412-47565454, 47565463-47565492, 47565732-47565803, 47565831, 47571631, 47571635, 47571641, 47572931, 47572938, 47572947, 47574195-47574197
810PCNT210.967136150234743291001147744143-47744196, 47766843, 47773197, 47775428, 47783666-47783711, 47786623, 47808674-47808677, 47811149, 47811152, 47817938, 47817992-47818002, 47818007-47818017, 47822341, 47822344-47822346, 47822352-47822357, 47831297-47831298, 47831309-47831311, 47831351, 47831359, 47831365, 47831369, 47831376-47831377, 47831399-47831408, 47831417-47831427, 47831449-47831461, 47831465-47831472, 47831667, 47831699-47831710, 47831718-47831726, 47831731-47831736, 47831749-47831756, 47831760-47831764, 47831775-47831785, 47831788-47831796, 47831800, 47831805-47831807, 47831809-47831810, 47832864-47832883, 47832898-47832906, 47836653, 47836699-47836703, 47848356-47848358, 47850517, 47850520, 47851679-47851687, 47851842-47851844, 47858095, 47863826-47863829, 47863834, 47863837-47863844
811PEX26220.8888888888888910291818561194-18561249, 18561257-18561264, 18561291-18561321, 18561339, 18561342-18561344, 18561371, 18566320, 18570784
812PRODH220.83638380476983295180318904414, 18905879-18905902, 18905940-18905941, 18905945, 18923534-18923800
813GP1BB220.0869565217391356762119711377-19711395, 19711398-19711405, 19711412-19711413, 19711422-19711940, 19711950-19711968
814TBX1220.37163978494624935148819748428-19748803, 19753305-19753311, 19753341-19753342, 19753345, 19753430-19753441, 19753448, 19753451-19753455, 19753461-19753525, 19753912-19754367, 19754381-19754390
815SMARCB1220.9188255613126194115824129357-24129449, 24175810
816UPB1220.993939393939397115524906773, 24906776-24906781
817HPS4220.9848484848484832211226849241, 26849249, 26849252, 26849278-26849297, 26859915-26859920, 26859930, 26860374-26860375
818CHEK2220.92788188529245127176129083905-29083919, 29083932-29083965, 29085135-29085171, 29091778-29091796, 29091837-29091844, 29126457, 29126530-29126536, 29130674-29130679
819NF2220.9804250559284135178830000018-30000043, 30067828, 30069280-30069286, 30074306
820SLC5A1220.9909774436090218199532487718-32487721, 32495184-32495186, 32495195, 32495198-32495206, 32495209
821TIMP3220.96855345911952063633198011-33198012, 33198018, 33198024-33198034, 33198051-33198056
822MYH9220.9898011218765960588336688072-36688104, 36688113-36688117, 36696277-36696297, 36697701
823TRIOBP220.95562130177515315709838109232, 38109247-38109248, 38109259-38109260, 38109263, 38111842-38111850, 38111856-38111857, 38111860-38111863, 38119742-38119774, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120038-38120068, 38120150-38120199, 38120297-38120303, 38120394-38120440, 38120480-38120486, 38121989, 38122056, 38129322-38129323, 38129413-38129419, 38130908-38130912, 38153933-38153943, 38161723, 38161739, 38161742, 38165155-38165186
824SOX10220.84225553176303221140138369915-38369959, 38379378-38379402, 38379476-38379480, 38379484, 38379487, 38379490-38379495, 38379518-38379519, 38379522-38379528, 38379536-38379537, 38379592, 38379666-38379791
825PLA2G6220.998760842627013242138511602, 38531021-38531022
826ADSL220.99793814432993145540745969-40745970, 40745977
827EP300220.9868875086266495724541489085-41489096, 41523638-41523651, 41527587, 41527592, 41546090, 41546107-41546113, 41546131-41546135, 41572898, 41573169, 41573182, 41573390, 41574178-41574200, 41574207-41574232, 41574497
828TNFRSF13C220.4162162162162232455542322115-42322176, 42322183-42322199, 42322218-42322237, 42322242-42322258, 42322264-42322335, 42322642-42322777
829CYB5R3220.973509933774832490643032850-43032852, 43045301-43045321
830ATXN10220.92156862745098112142846067944-46068055
831TRMU220.9581358609794653126646731693-46731737, 46751374-46751381
832ALG12220.9720518064076341146750297497, 50297991-50297993, 50297998, 50298078, 50303622-50303624, 50307358-50307389
833MLC1220.9241622574955986113450502469-50502470, 50502478-50502483, 50502501-50502521, 50502572-50502627, 50523274
834SCO2220.99750312109863280150962332, 50962559
835TYMP220.58178053830228606144950964199-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965011, 50965026-50965027, 50965044, 50965062-50965086, 50965116-50965120, 50965131-50965164, 50965167, 50967650-50967655, 50967665-50967668
836ARSA220.9671916010498750152451063624, 51063638-51063643, 51063656-51063658, 51063664, 51063668-51063675, 51063679-51063680, 51063718-51063722, 51063766, 51063771-51063773, 51063848-51063849, 51064038, 51064044, 51064047-51064050, 51065140-51065144, 51065749, 51065822, 51066163, 51066168, 51066172-51066173, 51066176
837SHANK3220.594965675057212124524451113070-51113132, 51113476-51113508, 51113527-51113570, 51113601-51113604, 51113607, 51117781, 51135671-51135683, 51135694-51135718, 51135951-51136143, 51137168-51137173, 51137177-51137178, 51143232, 51143235-51143248, 51143265, 51143269, 51143272, 51144568-51144569, 51158612-51158614, 51158617, 51158621-51158624, 51158627-51158632, 51158657-51158660, 51158681-51158719, 51158726-51159385, 51159412-51159503, 51159601-51159632, 51159664-51159709, 51159734-51159740, 51159751-51159796, 51159799-51159811, 51159820, 51159829-51159831, 51159870-51159891, 51159900-51159969, 51160000, 51160183-51160218, 51160239-51160245, 51160255-51160258, 51160269-51160270, 51160281, 51160536-51160537, 51160555, 51160558, 51160565, 51160575-51160576, 51160766-51160789, 51160822, 51169149-51169248, 51169254-51169740
838SUMF130.99644444444444411254458905, 4508732, 4508760, 4508777
839ITPR130.997049059387682481334726848-4726849, 4726853-4726855, 4726859, 4878497-4878514
840CAV330.9978070175438614568787514
841FANCD230.9977355072463810441610114941-10114947, 10132040, 10132065-10132066
842VHL30.883177570093467564210183649, 10183659, 10183664-10183665, 10183671-10183680, 10183693-10183741, 10183773-10183774, 10183809-10183818
843TSEN230.999284692417741139812544793
844RAF130.9928094504365714194712647791-12647798, 12660115-12660120
845WNT7A30.9838095238095217105013860746, 13860749, 13860765-13860766, 13860786, 13860850-13860853, 13896258, 13921246-13921251, 13921272
846XPC30.9939780375487117282314187448-14187449, 14188871-14188879, 14220007, 14220013, 14220032, 14220036-14220038
847COLQ30.999269005847951136815507850
848TGFBR230.997189432265325177930648382, 30648419, 30648429, 30648435-30648436
849GLB130.9616519174041378203433099696-33099698, 33138503-33138577
850CRTAP30.60945273631841471120633155570-33156040
851MLH130.9867899603698830227137067162, 37067188-37067213, 37067218, 37070419, 37090502
852SCN5A30.9913397860417751588938592029-38592065, 38597166-38597177, 38622683, 38648182
853ABHD530.9514285714285751105043732485-43732531, 43740823-43740825, 43756536
854TMIE30.6753812636165614945946742860-46742967, 46742991-46742994, 46743006-46743008, 46743024-46743029, 46743043-46743070
855TMIE30.906581740976654447146742991-46742994, 46743006-46743008, 46743024-46743029, 46743043-46743070, 46751074-46751076
856TREX130.9783783783783824111048508031-48508033, 48508036, 48508046-48508063, 48508542, 48508920
857COL7A130.98313525749859149883548602630-48602633, 48604435-48604436, 48607338, 48612511-48612518, 48612819-48612821, 48612846-48612852, 48612858-48612859, 48612862-48612863, 48612872-48612873, 48612876, 48612887-48612893, 48612901-48612906, 48612912, 48612915-48612922, 48619177, 48625764-48625772, 48627085-48627095, 48627116-48627151, 48627690, 48627693-48627696, 48629643, 48629653, 48629656-48629660, 48629665-48629667, 48629824-48629825, 48630551, 48630559, 48632531-48632542, 48632544-48632548, 48632566-48632567
858LAMB230.9890680007411559539749159457, 49160375, 49162019, 49162024-49162028, 49162309-49162311, 49162726-49162731, 49162736-49162738, 49162784-49162800, 49162806-49162812, 49162888, 49163205, 49163222, 49163233-49163237, 49163574-49163576, 49166132-49166134, 49166137
859AMT30.9876237623762415121249456489-49456503
860GNAT130.84520417853751163105350231186-50231199, 50231211-50231258, 50231527-50231567, 50231605-50231651, 50232198, 50232261-50232267, 50232316-50232320
861RFT130.9563345633456371162653138085-53138087, 53138102, 53156421-53156463, 53156540-53156546, 53157771-53157778, 53157781-53157789
862TKT30.93856837606838115187253263035-53263039, 53263151-53263153, 53289852-53289958
863HESX130.978494623655911255857232232, 57232249-57232252, 57232259-57232260, 57233810, 57233869-57233870, 57233878-57233879
864FLNB30.9948777052119340780957994397-57994416, 58109161-58109162, 58109364, 58116609, 58133966, 58133969-58133976, 58145363, 58145371-58145376
865PDHB30.9296296296296376108058416470-58416494, 58416501-58416510, 58416513, 58416566, 58419359, 58419369-58419396, 58419402-58419411
866ATXN730.87420718816068357283863898275-63898599, 63982035-63982051, 63982054-63982062, 63982065, 63982070-63982074
867MITF30.9846449136276424156369788749-69788761, 69928413, 69928416-69928424, 69928454
868PROK230.912820512820513439071834144-71834176, 71834186
869ROBO230.9956490210297318413777530336, 77530343-77530345, 77530350, 77600009, 77684105-77684116
870GBE130.996680891417737210981630362, 81643088-81643089, 81692039, 81698075, 81754598-81754599
871POU1F130.99685534591195395487313561-87313563
872PROS130.9847365829640631203193595868-93595869, 93595931-93595939, 93595959-93595971, 93605260-93605261, 93615446, 93629531-93629532, 93692564, 93692569
873ARL13B30.9836829836829821128793761883-93761884, 93762032-93762038, 93762041-93762044, 93762053, 93762056-93762058, 93768339-93768342
874CPOX30.81025641025641259136598311881, 98311884-98311886, 98311909-98311911, 98311914, 98311931-98311957, 98311965-98311972, 98312024, 98312027, 98312076, 98312111-98312323
875IQCB130.9988870339454621797121526203-121526204
876CASR30.97250540624035893237122003102, 122003327-122003329, 122003336, 122003431, 122003434, 122003446-122003494, 122003505-122003532, 122003600-122003604
877GP930.992509363295884534128780961, 128781057, 128781067, 128781116
878RHO30.9914040114613291047129251378, 129251383-129251390
879ATP2C130.9989473684210532850130660520, 130698161-130698162
880NPHP330.936388680190332543993132405159-132405160, 132409435-132409443, 132435669-132435672, 132435675-132435676, 132435691-132435692, 132435695-132435699, 132435719, 132435723, 132438558-132438564, 132438581-132438582, 132438603, 132438619-132438620, 132438628-132438633, 132438652-132438663, 132438668-132438674, 132440821-132440827, 132440941, 132440987-132440988, 132440993-132440995, 132440998, 132441023-132441199
881FOXL230.249336870026538491131138664464, 138664484, 138664540-138665086, 138665092-138665100, 138665113-138665137, 138665141-138665142, 138665158, 138665161, 138665175-138665425, 138665432-138665433, 138665442-138665446, 138665479, 138665526, 138665531, 138665551
882PLOD230.99341238471673152277145791095, 145791101-145791102, 145799623-145799628, 145804645, 145820614, 145828154, 145828157-145828159
883HPS330.98673300165837403015148847545-148847556, 148847592, 148847668, 148847671, 148863309-148863333
884GFM130.9964539007092282256158362441-158362442, 158362445, 158362453, 158362458, 158399852-158399854
885IFT8030.9974226804123762328160099348, 160099477-160099481
886PLD130.9987596899224843225171379940-171379943
887GHSR30.9963669391462341101172166073, 172166080, 172166087, 172166106
888DNAJC1930.9544159544159516351180702468-180702471, 180702480-180702489, 180702497-180702498
889SOX230.68658280922432299954181430149-181430152, 181430175-181430245, 181430258-181430284, 181430287, 181430293-181430298, 181430308-181430317, 181430322-181430344, 181430352, 181430355-181430360, 181430366-181430369, 181430387-181430409, 181430417-181430448, 181430513-181430517, 181430520-181430524, 181430527-181430532, 181430535-181430546, 181430557-181430604, 181430723-181430727, 181430746, 181430830-181430837, 181430939
890MCCC130.9986225895316832178182790249, 182804525, 182817208
891EIF2B530.9981532779316742166183853225, 183853272, 183853276, 183860305
892ALG330.99240698557327101317183960398-183960400, 183963013, 183963016, 183966626-183966627, 183966633, 183966636, 183966724
893CLCN230.9988876529477232697184064786, 184071903, 184075432
894TP6330.9965736661771972043189584516-189584522
895CLDN1630.998910675381261918190126230
896CCDC5030.9993098688750911449191097966
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1013TFAP2A60.9649923896499246131410398780-10398781, 10398788, 10404744-10404779, 10404816-10404819, 10410299, 10410360, 10410535
1014DTNBP160.9441287878787959105615627624-15627626, 15663045-15663100
1015ATXN160.95343137254902114244816306886, 16306890, 16306893-16306897, 16327403, 16327572-16327573, 16327584-16327595, 16327852-16327930, 16327933, 16327936-16327947
1016NHLRC160.91582491582492100118818122353, 18122466-18122470, 18122600-18122630, 18122647-18122664, 18122694-18122735, 18122822-18122824
1017ALDH5A160.84335154826958258164724495266, 24495290-24495294, 24495304-24495450, 24495463, 24495469-24495477, 24495480-24495482, 24495485-24495576
1018HFE60.995224450811845104726087725, 26087728, 26087733-26087734, 26091775
1019HLA-H60.8453333333333311675029855837, 29855845-29855846, 29855849, 29855854-29855865, 29855871-29855889, 29855978, 29856271, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856369-29856372, 29856376, 29856386-29856405, 29856415-29856428, 29856431-29856439, 29856512, 29856516, 29856523-29856534, 29856546, 29856550, 29856584-29856586, 29856596, 29856611, 29856686, 29856693
1020NEU160.9887820512820514124831830524-31830537
1021CFB60.999736911339121380131895821
1022TNXB60.92223950233281150192931976391, 31976397, 31976403, 31976899, 31976916, 31976926, 31977387-31977394, 31977525-31977555, 31977835-31977841, 31977994-31978002, 31978498-31978517, 31978580-31978587, 31978782-31978788, 31979444-31979482, 31979963, 31980000, 31980130-31980142
1023CYP21A260.9395161290322690148832006215-32006217, 32006220-32006223, 32006238-32006247, 32006337, 32006530, 32006966-32006974, 32007787-32007793, 32007846-32007852, 32008730-32008733, 32008764, 32008865-32008907
1024TNXB60.982166705947052271272932009126, 32009631-32009664, 32010122-32010129, 32010269-32010275, 32010569-32010575, 32010728-32010736, 32011235, 32011248, 32011313-32011321, 32011641-32011647, 32012298-32012336, 32012814-32012820, 32012984-32013029, 32025870, 32035443, 32046827, 32050067-32050068, 32063937, 32064098, 32064124-32064131, 32064134-32064136, 32064141-32064146, 32064299-32064300, 32064313, 32064316-32064320, 32064331-32064336, 32064423, 32064495, 32064507-32064514, 32064632-32064634
1025HLA-DQA160.923177083333335976832609166-32609169, 32609173, 32609181, 32609189-32609192, 32609195, 32609207, 32609213, 32609216, 32609221-32609224, 32609227, 32609231, 32609236, 32609264, 32609271, 32609276-32609279, 32609286, 32609299, 32609312, 32609870, 32609873-32609874, 32609965, 32610007-32610009, 32610387-32610406, 32610436, 32610513
1026HLA-DQB160.6348600508905928778632628022, 32629124-32629173, 32629761-32629767, 32629809, 32629844-32629908, 32629932-32629959, 32632608-32632647, 32632661-32632667, 32632680, 32632683, 32632687-32632738, 32632744, 32632749-32632758, 32632770, 32632777, 32632780-32632787, 32632791, 32634300-32634302, 32634306, 32634311-32634315, 32634331, 32634345-32634346
1027COL11A260.96622529265016176521133132657-33132662, 33135241-33135244, 33138112-33138119, 33138137-33138146, 33139546, 33139834, 33139838-33139840, 33139845, 33139855, 33140066-33140071, 33140080-33140081, 33140085-33140093, 33140112-33140138, 33140141-33140146, 33140352-33140358, 33140375-33140412, 33141492-33141493, 33141651, 33141681-33141702, 33141952-33141956, 33141962, 33145942-33145951, 33146883, 33147227, 33147496, 33159984, 33159987
1028SYNGAP160.86731150793651535403233388042-33388108, 33393575-33393680, 33399978-33399987, 33399997-33400008, 33400012-33400016, 33405742, 33405784, 33405787, 33405796-33405801, 33405818-33405834, 33405837, 33410271, 33410898, 33410909, 33410922-33410923, 33411140, 33411177-33411183, 33411230-33411246, 33411312, 33411456-33411462, 33411471-33411698, 33411720-33411723, 33411726, 33419579-33419615
1029FANCE60.90689013035382150161135420332-35420455, 35420475-35420489, 35420497-35420498, 35420537, 35420559, 35423860, 35425347, 35425358-35425361, 35426135
1030TULP160.9736034376918443162935479514-35479521, 35479529-35479550, 35479560-35479563, 35479570, 35479963, 35479990, 35479994, 35480005, 35480019, 35480039, 35480043, 35480437
1031MOCS160.997906855049714191139874274, 39874297, 39877596, 39877632
1032GUCA1B60.99502487562189360342152579-42152581
1033PRPH260.9644572526416937104142672105-42672120, 42672151-42672171
1034PEX660.92456676860347222294342946086-42946087, 42946090, 42946105, 42946109, 42946355-42946361, 42946375-42946377, 42946413, 42946416-42946436, 42946453-42946464, 42946470-42946471, 42946474-42946480, 42946490, 42946523-42946528, 42946538-42946542, 42946590, 42946594-42946595, 42946601-42946721, 42946730, 42946736, 42946738-42946744, 42946747-42946749, 42946785, 42946793, 42946797-42946804, 42946808, 42946816, 42946821-42946824
1035CUL760.9980380616048710509743008760, 43008768, 43008781-43008782, 43015934-43015935, 43016144, 43020336, 43020342, 43020371
1036RSPH960.8688327316486210983143612836-43612880, 43612887-43612888, 43612891-43612898, 43612903-43612929, 43612938-43612941, 43612948, 43612971-43612973, 43612985-43612992, 43613027, 43613033, 43613039-43613047
1037RUNX260.86781609195402207156645390330-45390535, 45399674
1038CD2AP60.9947916666666710192047471064-47471072, 47563689
1039MUT60.9631602308033783225349403275-49403276, 49403282, 49409576-49409601, 49409618-49409636, 49421334-49421335, 49421382-49421385, 49421423-49421442, 49423918, 49423923-49423924, 49423936-49423941
1040PKHD160.99566462167689531222551484057, 51484200-51484218, 51618109, 51768416-51768419, 51768422, 51889732-51889738, 51929753-51929771, 51929831
1041EYS60.98717541070482121943564430546, 64431099-64431101, 64431108, 64694420-64694428, 64940569-64940583, 65146083-65146129, 65149134-65149136, 65149162, 65523347-65523354, 65523411, 65523431, 65596662, 65707520, 66112371-66112383, 66115120-66115126, 66204615, 66204761-66204768
1042LMBRD160.9784349969192935162370410740, 70410752-70410755, 70423560-70423562, 70451735, 70506730-70506750, 70506754-70506758
1043COL9A160.998553868402024276670981388-70981391
1044RIMS160.9212443394369400507972596747-72596753, 72678686, 72678696-72678712, 72889481-72889482, 72889485, 72889502-72889503, 72892035-72892045, 72892049-72892052, 72892061-72892073, 72892114, 72892122-72892123, 72892236, 72892239-72892240, 72892243, 72892282-72892284, 72892290-72892298, 72892309-72892310, 72892316-72892392, 72892406-72892473, 72892511-72892513, 72892518, 72892521, 72892528, 72892531, 72892548-72892549, 72892565-72892612, 72892693-72892727, 72892774-72892797, 72952086, 73001695, 73108702-73108705, 73108743-73108796
1045SLC17A560.9361559139784995148874348176, 74363516-74363609
1046MYO660.999222395023333385876580391, 76617326, 76623850
1047LCA560.9952244508118410209480196764, 80202335-80202343
1048ELOVL460.941798941798945594580656926-80656955, 80656972-80656996
1049BCKDHB60.9592875318066248117980881070-80881076, 80881098-80881107, 80982857-80982887
1050SLC35A160.997041420118343101488187224, 88210377-88210378
1051RARS260.999424294761081173788265180
1052SIM160.9995654063450712301100868759
1053PDSS260.9991666666666711200107780274
1054SEC6360.955759964958391012283108243102, 108243106-108243112, 108279090-108279092, 108279124-108279213
1055OSTM160.833830845771141671005108395463, 108395539-108395545, 108395568-108395570, 108395575-108395585, 108395588, 108395591-108395596, 108395627-108395660, 108395683-108395721, 108395738-108395760, 108395772, 108395782-108395798, 108395808-108395815, 108395831-108395840, 108395848-108395853
1056FIG460.99596182085169112724110059556, 110064439, 110064446-110064447, 110081478-110081481, 110112656, 110112665, 110146413
1057WISP360.998212689901721119112382313, 112389426
1058COL10A160.9970631424375962043116442003-116442006, 116442365, 116446576
1059RSPH4A60.9976754997675552151116938047-116938051
1060GJA160.970409051349341149121768922-121768945, 121769101-121769102, 121769106-121769113
1061LAMA260.99327138737584639363129204464, 129371215-129371233, 129486812, 129513885-129513896, 129513901-129513907, 129513946-129513952, 129513964-129513973, 129635886, 129635889, 129635893, 129635899, 129635912, 129670506
1062ENPP160.931605471562281902778132129176-132129292, 132129308-132129310, 132129350-132129361, 132129368, 132129373-132129375, 132129392-132129394, 132185696, 132186074, 132186077, 132203485-132203507, 132203557-132203559, 132203568-132203569, 132203572-132203577, 132203582-132203595
1063EYA460.9958333333333381920133767838, 133769270, 133769276, 133777762, 133777768-133777770, 133777774
1064AHI160.99582289055973153591135732646-135732647, 135759549, 135759576-135759582, 135759590-135759594
1065PEX760.86316872427984133972137143839-137143933, 137147568, 137167250-137167285, 137191047
1066PEX360.96880570409982351122143792098-143792116, 143792206-143792217, 143792221-143792222, 143792550, 143792575
1067PLAGL160.97844827586207301392144263243-144263247, 144263250, 144263561-144263583, 144263608
1068STX1160.85069444444444129864144507806-144507836, 144507945-144507975, 144508054-144508055, 144508153, 144508243-144508245, 144508354-144508374, 144508390-144508427, 144508569-144508570
1069EPM2A60.68574297188755313996145948792-145948796, 145956420-145956426, 146056334-146056634
1070IYD60.9827586206896615870150710527-150710538, 150713501-150713502, 150719262
1071SYNE160.9952261877699512626394152451870, 152461142, 152461214, 152462441, 152477151, 152532692, 152545793-152545797, 152558015-152558055, 152560716-152560717, 152599284, 152599351, 152614793-152614800, 152623027, 152631002-152631009, 152642394, 152642399, 152644689, 152644733, 152644737, 152646290, 152665258, 152665261, 152674777-152674778, 152680559, 152694303, 152702369-152702383, 152702387-152702389, 152708398-152708399, 152728173, 152728224-152728226, 152740810, 152763273-152763279, 152763292-152763299, 152774766
1072PARK260.94062947067239831398161969931-161969991, 161970013-161970032, 162683633, 162683639
1073TBP60.92254901960784791020170871010-170871017, 170871021-170871037, 170871040, 170871043-170871046, 170871049, 170871056-170871066, 170871070-170871086, 170871088-170871091, 170871094-170871102, 170871106, 170871110, 170871123-170871124, 170871130, 170871144, 170871147
1074LFNG70.6429824561403540711402559496-2559830, 2559839, 2559846, 2559850-2559853, 2559864-2559901, 2564368, 2564891, 2565088, 2565098-2565106, 2565117-2565119, 2565122, 2565939, 2565946, 2565949-2565952, 2566006-2566010, 2566016
1075PMS270.98377752027814225896018309, 6022475-6022497, 6038855-6038856, 6042094-6042101, 6045523-6045530
1076TWIST170.3875205254515637360919156572-19156944
1077DNAH1170.989832007073391381357221582932, 21582963-21582964, 21583026-21583060, 21630573-21630578, 21630620, 21630903-21630966, 21630979-21630985, 21678669, 21726759-21726773, 21788266-21788267, 21788270, 21893972-21893973, 21893993
1078FAM126A70.994252873563229156623000873, 23016960-23016965, 23017905-23017906
1079KLHL770.996592844974456176123205520-23205522, 23205529, 23205534-23205535
1080DFNA570.9912810194500313149124742429, 24742432-24742436, 24742440-24742442, 24758795, 24784260-24784262
1081HOXA170.9821428571428618100827135376-27135380, 27135391-27135397, 27135403-27135406, 27135413-27135414
1082HOXA1370.55612682090831518116727239083-27239095, 27239099, 27239110-27239114, 27239143, 27239175, 27239200-27239696
1083GARS70.9896396396396423222030634578-30634590, 30634593-30634595, 30634600, 30634652, 30634655, 30634661, 30634701, 30634722, 30640743
1084GHRHR70.997641509433963127231008473-31008475
1085RP970.7612612612612615966633134994-33134995, 33136953-33136957, 33148833-33148984
1086BBS970.9861111111111137266433185872, 33303920-33303953, 33313555, 33573767
1087TXNDC370.9943406904357710176737916444-37916449, 37934207-37934210
1088GLI370.94138730761122278474342005043, 42005105, 42005123, 42005154, 42005207-42005209, 42005233-42005239, 42005253, 42005276-42005279, 42005290, 42005295, 42005451, 42005535, 42005545-42005547, 42005567-42005613, 42005621-42005630, 42005717-42005741, 42005787-42005858, 42005871-42005875, 42005890-42005902, 42005929, 42005935, 42005956-42005962, 42006018-42006019, 42006025-42006043, 42006081-42006124, 42012029, 42064954, 42064957, 42065930, 42187898-42187899
1089GCK70.9892933618843715140144185212-44185216, 44185236-44185240, 44191873, 44192923-44192926
1090CCM270.975280898876433133545039933-45039962, 45077978-45077980
1091DDC70.9785169785169831144350597002-50597032
1092GRB1070.998879551820732178550682559-50682560
1093EGFR70.96559317368566125363355086971-55087058, 55214372-55214378, 55214393, 55214407, 55220261, 55220267-55220268, 55220271-55220285, 55220289-55220294, 55220297, 55220300, 55240788, 55273039
1094GUSB70.9713701431492856195665446961-65446980, 65446990-65447025
1095ASL70.9799283154121928139565551808, 65554078-65554083, 65554097, 65554103, 65554113-65554118, 65554133, 65554136, 65554141-65554144, 65554277-65554278, 65554281, 65554284, 65554293, 65554299, 65554310
1096KCTD770.8344827586206914487066094052-66094195
1097SBDS70.99070385126162775366456158-66456164
1098NCF170.917575757575766882572639982-72639989, 72640033-72640039, 72643704-72643723, 72644230-72644245, 72648734-72648750
1099ELN70.9627586206896681217573442518, 73442523-73442548, 73442561-73442577, 73449694-73449700, 73456983, 73462845-73462851, 73466275-73466278, 73466284-73466294, 73467503-73467505, 73471985-73471987, 73480276
1100NCF170.75873827791986283117374188399-74188405, 74193624-74193645, 74193664-74193672, 74197911-74197917, 74202421-74202432, 74202911-74202956, 74202967-74202979, 74202987-74203048, 74203383-74203404, 74203412-74203419, 74203430-74203504
1101POR70.92511013215859153204375614211-75614244, 75614265-75614270, 75614384-75614410, 75614420-75614491, 75614523-75614525, 75615159-75615161, 75615271-75615278
1102HSPB170.7394822006472516161875932041-75932047, 75932061-75932062, 75932066-75932067, 75932171-75932181, 75932190, 75932193-75932196, 75932238-75932244, 75932251-75932327, 75932343-75932344, 75932352-75932363, 75932369-75932385, 75932389-75932392, 75933301-75933315
1103CD3670.9901338971106414141980302116, 80303395-80303404, 80303459-80303460, 80303463
1104HGF70.9675354366712471218781388072, 81388088-81388095, 81388101-81388105, 81399225-81399272, 81399279-81399287
1105ABCB470.989062542384087031472-87031495, 87037380, 87037417-87037427, 87037460, 87047853-87047856, 87069084
1106AKAP970.990788126919141081172491609612-91609642, 91645560-91645567, 91651594-91651607, 91682222, 91690655, 91714898-91714914, 91714920-91714926, 91722471-91722492, 91727449-91727453, 91731986-91731987
1107KRIT170.9782903663500748221191852180, 91852184-91852185, 91852191, 91852227, 91855893, 91867017-91867057, 91867069
1108PEX170.9880581516095546385292119154-92119157, 92122421, 92134099, 92134107-92134113, 92134123-92134124, 92134128-92134129, 92134132-92134136, 92140302, 92140977-92140984, 92141007-92141009, 92157621-92157627, 92157640, 92157643, 92157647-92157648, 92157653
1109COL1A270.9843940502316564410194030898-94030899, 94030919-94030920, 94037652, 94049545-94049555, 94049566, 94049569, 94049572-94049573, 94049576-94049577, 94049886, 94049919-94049938, 94049950, 94055337, 94056349, 94058694, 94058702-94058711, 94058718, 94058721-94058726
1110SGCE70.9771386430678531135694248114, 94252653, 94252656, 94252689-94252709, 94259069, 94259076, 94285329-94285331, 94285334-94285335
1111SLC25A1370.9901526341703620203195751289-95751306, 95951267-95951268
1112TFR270.934746467165421572406100218631-100218650, 100218655-100218666, 100224480-100224526, 100224954-100224961, 100224972-100224983, 100228633-100228636, 100230657, 100230663, 100230670, 100230673, 100230685, 100230719-100230720, 100230905, 100231109-100231118, 100231124-100231125, 100231128-100231129, 100231132, 100238636, 100238640-100238644, 100238647-100238650, 100238655, 100238701-100238708, 100239121-100239132
1113SLC26A570.9834451901566372235103014976-103014977, 103015002, 103017259-103017261, 103017265-103017272, 103017281-103017285, 103017298-103017309, 103029484-103029488, 103050917
1114RELN70.992483376698477810377103136258, 103136291, 103155723, 103155726-103155728, 103162533-103162539, 103191622, 103191625-103191629, 103234903-103234904, 103234909, 103234915, 103236984-103236989, 103244828-103244837, 103244843-103244845, 103244853-103244854, 103244910, 103341411-103341414, 103417013-103417025, 103417028, 103629723-103629724, 103629730, 103629733-103629736, 103629772-103629775, 103629800-103629803
1115SLC26A470.9961587708066692343107302095-107302096, 107315470, 107355870-107355875
1116SLC26A370.9978213507625352295107432275, 107432284, 107432354-107432355, 107432366
1117DLD70.9986928104575221530107555974, 107555983
1118IFRD170.95870206489676561356112090793-112090837, 112101965-112101971, 112102169-112102172
1119MET70.9997603642463514173116340124
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1126ATP6V0A470.98374950455807412523138394372-138394373, 138394379-138394384, 138394387, 138394393-138394395, 138394400-138394405, 138394493-138394511, 138394521-138394523, 138437416
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1128PRSS170.79704301075269151744142458406-142458454, 142459625-142459629, 142459664-142459682, 142459833, 142460313, 142460335, 142460339, 142460366-142460397, 142460741-142460782
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1130CNTNAP270.98098098098098763996145813973-145813988, 145813992, 145813994-145813995, 145813997-145814002, 145814006-145814008, 145814014, 145814031-145814039, 146471410, 146741005, 146741126, 146825822-146825823, 146825827, 146825841, 147092799, 147844707, 147844728, 147844742, 147914481-147914485, 147914520-147914541
1131KCNH270.718965517241389783480150644419-150644420, 150644431, 150644441-150644442, 150644464-150644472, 150644480-150644486, 150644489, 150644543-150644550, 150644559-150644576, 150644580-150644590, 150644596-150644602, 150644694-150644833, 150644883-150644886, 150644891-150644892, 150644895, 150644911, 150644914-150644926, 150644930-150644935, 150644938-150644940, 150645533-150645568, 150645577-150645608, 150648671-150648673, 150648878, 150648891-150648893, 150648898-150648900, 150648903, 150648908, 150648920, 150649718-150649719, 150655147-150655166, 150655209-150655522, 150655529-150655564, 150671808-150672019, 150672029, 150674926-150675001
1132PRKAG270.95906432748538701710151329155-151329224
1133SHH70.572354211663075941389155595594-155596159, 155596191-155596214, 155596303-155596306
1134MNX170.277777777777788711206156798214-156798417, 156798429-156798435, 156798442-156798470, 156798474, 156798494, 156798561-156798567, 156799258-156799301, 156799317-156799323, 156802374-156802381, 156802389, 156802400-156802402, 156802405-156802407, 156802435-156802442, 156802452, 156802459-156802463, 156802466-156802479, 156802484, 156802487, 156802501, 156802504, 156802521-156803044
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1136MCPH180.988835725677832825086264189-6264210, 6338358, 6479007-6479011
1137GATA480.59894657637321533132911565841-11565869, 11565878-11565937, 11565943-11566370, 11566384-11566386, 11566393, 11566396-11566400, 11566407, 11607687-11607692
1138TUSC380.83954154727794168104715397940-15398075, 15480615-15480640, 15480675-15480679, 15601063
1139ASAH180.994949494949496118817915075, 17924734, 17924739, 17941521-17941523
1140LPL80.996498599439785142819810866-19810868, 19810875, 19810878
1141NEFL80.92218137254902127163224813132-24813140, 24813143-24813144, 24813149-24813152, 24813156-24813169, 24813177, 24813230-24813232, 24813412-24813413, 24813416-24813437, 24813443, 24813497-24813505, 24813519, 24813524-24813527, 24813581, 24813586, 24813590, 24813593-24813603, 24813653, 24813656-24813665, 24813668, 24813672-24813677, 24813682-24813701, 24813704, 24813710, 24813713
1142CHRNA280.994339622641519159027320602-27320604, 27320643, 27321073-27321075, 27321169, 27321269
1143ESCO280.996124031007757180627633930-27633932, 27633992, 27646420-27646421, 27650277
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1145ANK180.97646645591851134569441530223, 41552201, 41553921, 41583331-41583333, 41583441, 41583444, 41753873-41753998
1146THAP180.971962616822431864242693205-42693209, 42693214-42693218, 42693235-42693240, 42693243-42693244
1147HGSNAT80.93815513626834118190842995640-42995757
1148RP180.9969092875907920647155533624, 55533629-55533631, 55533649-55533659, 55533902-55533904, 55533926, 55537294
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1150TTPA80.7909199522102717583763998382, 63998387, 63998393, 63998409-63998580
1151CYP7B180.922419460881118152165527658, 65527666, 65527669, 65527681, 65528473, 65528587-65528595, 65528666, 65528749, 65528754, 65711030-65711033, 65711036-65711039, 65711052-65711144
1152TMEM7080.906768837803327378374888517-74888525, 74888541-74888571, 74888595, 74888598, 74888600-74888604, 74888610-74888618, 74888640-74888648, 74888689-74888696
1153GDAP180.999071494893221107775276279
1154CA280.956577266922093478386376311-86376344
1155CNGB380.998353909465024243087591070, 87591464, 87679302-87679303
1156NBN80.9933774834437115226590947822-90947829, 90960113, 90996761-90996766
1157DECR180.999007936507941100891057177
1158TMEM6780.9923025435073623298894770757, 94777832, 94777836, 94777846, 94777852, 94793110-94793112, 94793141, 94794638, 94811925-94811929, 94811942, 94811945, 94827590, 94828603, 94828606, 94828629-94828631
1159GDF680.44883040935673754136897156946, 97156996-97156997, 97157037-97157039, 97157097-97157099, 97157151-97157466, 97157472-97157679, 97157734-97157737, 97157746-97157751, 97172564-97172576, 97172668-97172695, 97172698-97172701, 97172713-97172714, 97172744-97172780, 97172786-97172848, 97172857-97172920
1160VPS13B80.994080373520097111994100050675-100050681, 100050752, 100123385-100123393, 100123398-100123405, 100123412-100123413, 100123458-100123494, 100123504-100123507, 100513925, 100513928, 100831088
1161GRHL280.9962726304579371878102555604-102555610
1162RRM2B80.9990530303030311056103238213
1163DPYS80.830769230769232641560105478885-105479148
1164TRPS180.9966537966538133885116599445-116599456, 116599462
1165TNFRSF11B80.9991708126036511206119938782
1166KIAA019680.9991379310344833480126073355, 126085406-126085407
1167KCNQ380.929362352042761852619133492561, 133492566-133492574, 133492576-133492620, 133492625, 133492628, 133492634-133492635, 133492642-133492646, 133492659-133492779
1168TG80.99759239195859208307133879248-133879249, 133879262-133879265, 133879274, 133882071, 133900637-133900644, 133912572, 133920562, 134031851, 134034385
1169NDRG180.9983122362869221185134251218, 134274315
1170CYP11B180.906746031746031411512143956374-143956396, 143956406-143956430, 143956534-143956542, 143957129, 143957142-143957143, 143957209-143957236, 143958475, 143958513-143958533, 143958572-143958602
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1173GPT80.786720321931593181491145730656-145730658, 145730661-145730663, 145730715-145730742, 145730816, 145730819, 145730871-145730872, 145731231-145731310, 145731449, 145731452, 145731457-145731480, 145731488, 145731508-145731514, 145731654-145731696, 145731703-145731725, 145731886-145731893, 145731899, 145731906, 145731913-145731932, 145731938, 145731941, 145731943-145731944, 145731999-145732039, 145732122, 145732319-145732342
1174RECQL480.861042183622835043627145737387-145737432, 145738282, 145738321, 145738325-145738343, 145738350-145738357, 145738506-145738509, 145738629-145738670, 145738684-145738694, 145738733-145738755, 145738768, 145738955-145739019, 145739074-145739096, 145739398-145739431, 145739446-145739452, 145739692, 145741982-145741986, 145741991-145742002, 145742500-145742505, 145742798-145742862, 145742871-145742879, 145742890-145742892, 145742986-145743019, 145743085-145743168
1175DOCK890.983968253968251016300214977-215029, 332427-332439, 371519, 371538, 377128-377134, 379824-379828, 382566-382575, 386331-386332, 429778, 433966, 433969, 439371, 452063-452067
1176VLDLR90.968344774980938326222622190-2622271, 2652945
1177KCNV290.8925518925518917616382718010-2718030, 2718113, 2718243-2718248, 2718307-2718350, 2718400-2718404, 2718407, 2718463-2718464, 2718469, 2718597-2718618, 2718692, 2718728, 2718735-2718741, 2718767, 2718785-2718794, 2718930-2718979, 2718992-2718994
1178GLIS390.9183673469387822827933856050, 4117830-4117852, 4117936-4117942, 4117968-4117986, 4118039-4118044, 4118099-4118135, 4118176-4118216, 4118224, 4118228-4118233, 4118244-4118276, 4118309-4118329, 4118351-4118355, 4118363-4118372, 4118381-4118382, 4118407-4118416, 4118448-4118449, 4118453, 4118463-4118464, 4118469
1179SLC1A190.991111111111111415754490750-4490756, 4490760, 4490765-4490770
1180JAK290.990291262135923333995066756-5066759, 5077469-5077475, 5077478-5077484, 5077487, 5077495-5077499, 5077507, 5077525-5077527, 5077576-5077580
1181GLDC90.9621286320600711630636645358-6645391, 6645395-6645406, 6645418, 6645421, 6645423-6645490
1182CDKN2A90.849256900212317147121971019, 21971164, 21971175-21971176, 21971180-21971182, 21974715-21974740, 21974755-21974792
1183CDKN2A90.856321839080467552221971019, 21971164, 21971175-21971176, 21971180-21971182, 21994151, 21994212, 21994215, 21994221-21994222, 21994225, 21994321-21994338, 21994352-21994395
1184TOPORS90.9901210962396431313832550784, 32550787-32550808, 32550815-32550818, 32550826, 32550935, 32550959-32550960
1185APTX90.993197278911567102932973532, 32973552-32973557
1186B4GALT190.86382623224728163119733166872-33166884, 33166908-33166939, 33166952, 33166965-33166967, 33166980-33166981, 33166992-33167039, 33167077-33167090, 33167097, 33167100-33167106, 33167114-33167125, 33167128-33167130, 33167136-33167142, 33167148-33167167
1187DNAI190.997142857142866210034491539-34491544
1188GALT90.9894736842105312114034646755, 34646759, 34647545-34647547, 34647558-34647564
1189VCP90.999586947542341242135061119
1190FANCG90.9823434991974333186935074400, 35075030-35075033, 35076014, 35076754, 35079196-35079213, 35079218-35079225
1191TPM290.99883040935673185535685670
1192NPR290.997137404580159314435792452, 35792651-35792657, 35807113
1193GNE90.996463306808138226236217411, 36217416-36217418, 36217425, 36217437, 36217460, 36233995
1194GRHPR90.99898682877406198737428528
1195FXN90.7835703001579813763371650717-71650762, 71650776-71650863, 71668104-71668105, 71687604
1196TMC190.995181778361811228375315449, 75369759, 75403384, 75450872-75450879
1197TRPM690.9934091283572340606977401018-77401025, 77411674, 77411680, 77454960-77454989
1198VPS13A90.98236220472441168952579792655, 79820233-79820236, 79820898, 79820917-79820919, 79820930-79820933, 79820960, 79841415-79841420, 79841431-79841441, 79841480-79841483, 79841493-79841496, 79841510, 79843073-79843075, 79875070, 79891042, 79896801, 79896835, 79896838-79896842, 79908356, 79908366, 79908372, 79908419-79908421, 79910516-79910517, 79930317, 79930320-79930321, 79931210-79931214, 79931224, 79931235-79931241, 79931249-79931254, 79932522-79932543, 79933151-79933170, 79934488-79934498, 79936156, 79937983-79937990, 79952241-79952242, 79952247-79952248, 79952253-79952254, 79974315, 79996909, 79996913-79996914, 79996919-79996932
1199AUH90.9215686274509880102094087618-94087625, 94124084, 94124094-94124095, 94124098, 94124104-94124171
1200ROR290.96468926553672100283294486010, 94486084, 94486393-94486401, 94486688, 94486819, 94488888-94488890, 94495405-94495428, 94495587, 94495590-94495598, 94495608, 94495618-94495621, 94495716-94495718, 94712185-94712187, 94712207-94712245
1201SPTLC190.992967651195510142294871107-94871116
1202FANCC90.998807394156232167797873784, 97897745
1203PTCH190.93070902394107301434498209527-98209530, 98209623, 98209630, 98209670, 98209692, 98220364-98220368, 98239907-98239910, 98268689-98268776, 98268851-98268881, 98270466-98270516, 98270525-98270535, 98270541-98270643
1204XPA90.9793187347931917822100451858, 100459431, 100459434-100459448
1205FOXE190.140819964349389641122100616197-100617158, 100617183-100617184
1206TGFBR190.93452380952381991512101867488-101867584, 101908767-101908768
1207ALG290.94164668265388731251101980225, 101983910-101983955, 101984061-101984072, 101984074-101984077, 101984089-101984097, 101984175
1208INVS90.97967479674797653198102988367-102988373, 102988437-102988461, 103015356-103015359, 103046714-103046717, 103046726-103046740, 103046747-103046756
1209ALDOB90.9981735159817421095104187203, 104189766
1210ABCA190.99852637783672106786107553250-107553256, 107556790-107556791, 107576470
1211FKTN90.98629148629149191386108337354-108337357, 108370210-108370212, 108380320-108380331
1212MUSK90.99348659003831172610113449486, 113530275, 113530288-113530291, 113530302, 113547809-113547810, 113547814, 113547857-113547863
1213DFNB3190.908957415565352482724117186727, 117186730, 117186737-117186746, 117266685-117266708, 117266752, 117266783, 117266808-117266902, 117266916-117266922, 117266934-117266937, 117266940, 117266945-117266953, 117266965-117267044, 117267052-117267063, 117267070, 117267079
1214CDK5RAP290.99454417458641315682123163097-123163103, 123171418-123171424, 123199732-123199738, 123253655-123253663, 123342206
1215GSN90.94167730949341372349124062144-124062280
1216NR5A190.838383838383842241386127245147-127245182, 127255400-127255401, 127255405, 127262458-127262461, 127262608, 127262775-127262776, 127262780-127262782, 127262787, 127262790, 127262855, 127265358, 127265367-127265377, 127265387-127265429, 127265440, 127265450-127265456, 127265460, 127265463-127265471, 127265473-127265485, 127265490-127265495, 127265573-127265603, 127265610-127265643, 127265652-127265662, 127265668, 127265672-127265674
1217LMX1B90.753351206434322761119129376836, 129376839, 129376857, 129377662-129377848, 129455587, 129456028-129456079, 129456089-129456090, 129458140, 129458168-129458180, 129458188-129458192, 129458216-129458222, 129458227, 129458230-129458233
1218STXBP190.97958057395143371812130374683-130374719
1219ENG90.97268588770865541977130578038, 130616573-130616614, 130616621-130616631
1220GLE190.98712446351931272097131267155-131267166, 131267170, 131267178, 131287653, 131289735-131289746
1221DOLK90.99257884972171121617131709015-131709022, 131709033-131709034, 131709552-131709553
1222TOR1A90.88888888888889111999132586187-132586191, 132586210-132586218, 132586259-132586295, 132586301-132586360
1223ASS190.9935431799838681239133327618-133327625
1224POMT190.98760330578512272178134382789-134382812, 134394827, 134394834, 134394837
1225SETX90.99178491411501668034135139872-135139896, 135139901, 135140212, 135153545-135153552, 135153561-135153567, 135153578-135153579, 135153604-135153606, 135158736-135158737, 135187148-135187151, 135187159-135187163, 135203588-135203595
1226TTF190.9988962472406232718135263553-135263555
1227TSC190.9991416309012933495135771934, 135802623, 135802630
1228CEL90.794804051078824662271135944521-135944527, 135944583-135944589, 135945994-135946018, 135946486-135946489, 135946590-135946592, 135946597-135946599, 135946628-135947044
1229SURF190.87596899224806112903136221779-136221785, 136223125-136223175, 136223276-136223329
1230ADAMTS1390.935340802987862774284136287665-136287666, 136293754-136293891, 136295059-136295079, 136295110-136295119, 136295171, 136295174, 136295177-136295181, 136295203-136295209, 136295212, 136295217, 136295221, 136298547, 136301949-136301975, 136301996-136302031, 136302047-136302067, 136302074-136302075, 136308669, 136308677
1231DBH90.94714131607335981854136522234-136522249, 136522254-136522262, 136522274-136522310, 136522337-136522351, 136523489-136523495, 136523499-136523502, 136523529, 136523535-136523543
1232SARDH90.96880667392093862757136535736-136535746, 136535751-136535758, 136535765, 136550385, 136550388, 136561474, 136573412, 136573514, 136597672-136597723, 136599266, 136599271, 136599289-136599295
1233COL5A190.977161500815661265517137534034-137534142, 137623485-137623490, 137642726, 137645698-137645699, 137726877, 137726934-137726940
1234LHX390.771712158808932761209139089303-139089305, 139089335, 139089338, 139089352, 139089500-139089514, 139090507, 139090515-139090517, 139090754-139090905, 139091613, 139091668-139091671, 139094792-139094885
1235INPP5E90.744702842377264941935139326284, 139326306-139326314, 139326364-139326373, 139327010-139327031, 139327035-139327038, 139327703, 139327719-139327721, 139329284, 139333063, 139333067, 139333136-139333137, 139333144, 139333148-139333190, 139333208-139333210, 139333305-139333389, 139333405, 139333422, 139333436, 139333469-139333498, 139333502-139333513, 139333539-139333568, 139333585, 139333590-139333591, 139333594, 139333622-139333682, 139333691-139333698, 139333713-139333871
1236NOTCH190.913797600417326617668139390546-139390552, 139390571-139390613, 139390842, 139390845, 139390908-139390932, 139390962-139391038, 139391280-139391286, 139391307-139391342, 139391415-139391423, 139391507-139391509, 139391518-139391519, 139391534-139391549, 139391615-139391639, 139391660-139391668, 139391803, 139391808, 139391811-139391858, 139391866-139391876, 139391898-139391900, 139391905-139391906, 139391914-139391917, 139391942-139391949, 139391967, 139391970-139391971, 139391977-139391996, 139391999-139392008, 139395184, 139395200-139395204, 139395223-139395224, 139396834-139396835, 139396879-139396884, 139396892-139396893, 139396906-139396916, 139399216, 139399219-139399220, 139399223-139399224, 139399248-139399281, 139399405-139399434, 139399870-139399876, 139400166-139400172, 139400183-139400188, 139400194-139400197, 139400290, 139400293, 139401090, 139401302-139401306, 139402745-139402752, 139403322-139403350, 139407477-139407478, 139409803, 139411764-139411795, 139412375-139412386, 139412632, 139417492, 139417561-139417565, 139417573, 139417589-139417594, 139440178-139440238
1237AGPAT290.76224611708483199837139571070-139571074, 139571950-139571960, 139571963, 139581628-139581809
1238SLC34A390.803888888888893531800140127034-140127035, 140127051, 140127053-140127054, 140127059-140127065, 140127069, 140127138-140127155, 140127705, 140127708, 140127763-140127767, 140127799-140127800, 140127803-140127808, 140128085, 140128088, 140128126-140128172, 140128322-140128365, 140128367-140128373, 140128380, 140128386, 140128390, 140128561-140128652, 140128884-140128900, 140128930-140128948, 140128958-140128963, 140128967, 140130496-140130539, 140130700, 140130704, 140130736, 140130747-140130754, 140130785, 140130856-140130868
1239EHMT190.955350269438031743897140513481-140513501, 140605431, 140605442-140605446, 140605457-140605459, 140605462-140605464, 140605475, 140611216-140611254, 140637823-140637824, 140638502-140638504, 140638508, 140638511, 140638518-140638520, 140638524, 140638532, 140672415-140672418, 140708896-140708902, 140708926, 140708943, 140728806, 140728939-140728940, 140728954, 140728961-140728969, 140729269, 140729275, 140729286-140729342, 140729348-140729350, 140729353
1240SHOXX0.71786120591581248879591763-591769, 591772-591775, 595465, 595476-595477, 595487-595500, 595503-595504, 595511, 595514-595535, 595547-595549, 595553, 605149-605160, 605180-605204, 605218-605371
1241CSF2RAX0.977777777777782913051422172-1422200
1242ARSEX0.99943502824859117702876436
1243NLGN4XX0.994288045695631424515821338, 5821341-5821349, 5821352, 5821359-5821361
1244KAL1X0.9099363680861518420438504816, 8667747, 8699871-8699872, 8699884-8699885, 8699892-8699896, 8699899-8699901, 8699908-8700077
1245GPR143X0.8674509803921616912759728777-9728780, 9733608-9733755, 9733794-9733796, 9733804-9733806, 9733809-9733814, 9733822, 9733825-9733828
1246MID1X0.996007984031948200410427715-10427722
1247TRAPPC2X0.98581560283688642313732537-13732541, 13732552
1248OFD1X0.998025666337616303913767583, 13781898-13781901, 13786343
1249FANCBX0.9957364341085311258014877313, 14877357, 14877407, 14882930, 14883607-14883613
1250CDKL5X0.997090203685749309318646678, 18646683-18646688, 18646699, 18646707
1251RS1X0.985185185185191067518660143, 18660146-18660148, 18660156-18660159, 18660169, 18660173
1252PHKA2X0.999730312837111370818917317
1253PDHA1X0.999147485080991117319362201
1254RPS6KA3X0.9883040935672526222320174317-20174319, 20179797, 20205984, 20205991, 20206647-20206652, 20284682-20284688, 20284697, 20284735-20284737, 20284743-20284745
1255SMSX0.9554950045413349110121958943-21958991
1256PHEXX0.999555555555561225022186499
1257ARXX0.45411486086442922168925022841, 25022906-25022909, 25022914-25022916, 25022920, 25022925-25022935, 25022956-25023003, 25025295-25025318, 25025320-25025324, 25025352-25025364, 25025367-25025383, 25025397-25025484, 25025488-25025490, 25025502, 25025505-25025513, 25025519, 25025524-25025530, 25025543-25025546, 25031075-25031077, 25031085-25031086, 25031092-25031095, 25031112-25031113, 25031116, 25031133, 25031141-25031147, 25031152, 25031158-25031166, 25031216-25031227, 25031249-25031312, 25031322-25031416, 25031428-25031900, 25033691, 25033697, 25033702-25033705, 25033714, 25033720
1258NR0B1X0.91578202406228119141330326583-30326641, 30326653-30326659, 30326803-30326808, 30326844, 30327074-30327093, 30327130-30327142, 30327227-30327228, 30327231-30327234, 30327292-30327293, 30327314, 30327322, 30327384-30327386
1259DMDX0.986163863266411531105831164456-31164467, 31165477-31165494, 31366719, 31462703, 31893372-31893375, 31893379, 31893386-31893388, 31893392-31893394, 31986497-31986499, 32305708-32305716, 32305727-32305728, 32305734-32305743, 32366564-32366567, 32398669, 32398672-32398673, 32472819, 32481644, 32486793-32486810, 32509419-32509428, 32509456-32509485, 32613946, 32613971, 32613984, 32827659, 32827666-32827679, 32867882
1260CYBBX0.996497373029776171337642752, 37642762, 37665697, 37665700-37665702
1261RPGRX0.8800231280717415345938145312-38145713, 38145725, 38145731, 38163973-38163975, 38182691, 38186603-38186609
1262OTCX0.999061032863851106538226647
1263TSPAN7X0.934666666666674975038525375-38525394, 38546860-38546888
1264BCORX0.9920273348519442526839911479-39911480, 39921564-39921565, 39923008-39923009, 39923021, 39923026, 39923637-39923648, 39931873-39931879, 39932152-39932159, 39932480, 39933586-39933589, 39934105-39934106
1265NYXX0.42600276625173830144641332744-41333555, 41333647-41333663, 41333706
1266CASKX0.9953000723065813276641394150-41394151, 41401983-41401992, 41782240
1267MAOAX0.998106060606063158443571983-43571985
1268NDPX0.97761194029851940243809156-43809157, 43809160-43809166
1269ZNF674X0.9919816723940414174646360432-46360445
1270RP2X0.996201329534664105346696589, 46739173-46739175
1271UBA1X0.999055712936733317747062095, 47069391-47069392
1272SYN1X0.64825306893296745211847433436-47433438, 47433441-47433442, 47433448-47433449, 47433454, 47433457, 47433490, 47433516-47433521, 47433527, 47433530-47433532, 47433543-47433547, 47433557-47433875, 47433900-47433945, 47433955-47433970, 47434091-47434101, 47434104-47434138, 47434158-47434165, 47436856-47436857, 47436869-47436873, 47436885-47436892, 47478764-47478766, 47478777-47478779, 47478785, 47478814-47478840, 47478843-47478848, 47478854-47478889, 47478934-47479127
1273CFPX0.9914893617021312141047485828, 47488923-47488926, 47488932, 47488936-47488938, 47488941, 47488986, 47489232
1274FTSJ1X0.99494949494949599048341139-48341140, 48341145-48341147
1275PORCNX0.9927849927849910138648371008-48371017
1276EBPX0.995670995671369348382318-48382320
1277WASX0.87077534791252195150948547076-48547116, 48547150, 48547166-48547167, 48547171-48547173, 48547183-48547253, 48547263-48547265, 48547285-48547329, 48547369-48547373, 48547716-48547739
1278GATA1X0.9887278582930814124248649648, 48649661-48649664, 48649686, 48649690, 48650525-48650531
1279PQBP1X0.98997493734336879848755794, 48755809, 48760288, 48760291-48760295
1280SYPX0.967091295116773194249048087-49048091, 49056620-49056645
1281CACNA1FX0.9961240310077523593449061599, 49065118-49065120, 49067107-49067108, 49075000, 49075164-49075169, 49075836, 49086985, 49087028, 49087035-49087038, 49087049, 49087325, 49087328
1282FOXP3X0.9714506172839537129649107797-49107812, 49107818-49107830, 49108210-49108212, 49110480, 49110490-49110491, 49110496, 49114875
1283CLCN5X0.999184006527952245149806952, 49846409
1284KDM5CX0.9895366218236249468353222155, 53222167-53222171, 53222445-53222466, 53223591-53223610, 53225898
1285SMC1AX0.999729875742841370253410112
1286HSD17B10X0.99236641221374678653460785-53460790
1287FGD1X0.93104643104643199288654494254-54494261, 54496755-54496793, 54497111-54497149, 54497831, 54521739-54521749, 54521752, 54521766-54521865
1288ARHGEF9X0.99935525467441155162857992
1289ARX0.90119435396308273276366765125-66765132, 66765135-66765229, 66765237-66765265, 66765436, 66765446, 66765579, 66765582-66765586, 66765599-66765604, 66765866, 66765875-66765877, 66765902-66765907, 66765957-66765963, 66766118, 66766125-66766128, 66766172-66766179, 66766188-66766192, 66766196, 66766200, 66766202-66766225, 66766241-66766252, 66766353-66766399, 66766407, 66766419-66766423, 66766466
1290OPHN1X0.996679119966798240967283815, 67283818, 67293099-67293104
1291EFNB1X0.995196926032665104168049702-68049703, 68059884, 68060275, 68060317
1292EDAX0.9574829931972850117668836188, 68836192-68836204, 68836236-68836237, 68836240-68836250, 68836254, 68836272-68836274, 68836316-68836329, 68836388-68836389, 69253325-69253327
1293DLG3X0.94132029339853144245469665052-69665082, 69665090-69665147, 69665159-69665179, 69665192-69665193, 69665222-69665223, 69665227-69665231, 69665239-69665245, 69665254-69665261, 69665278-69665282, 69665339, 69665358-69665359, 69669620, 69670133
1294MED12X0.96311600857055241653470338605-70338689, 70338692-70338694, 70344016-70344035, 70354258-70354262, 70354992, 70356265, 70356270, 70356346, 70356354, 70360596-70360615, 70360636-70360642, 70360644, 70360656-70360662, 70360669, 70360686-70360695, 70361089-70361091, 70361094, 70361097, 70361100, 70361103, 70361107-70361117, 70361120-70361127, 70361130, 70361133-70361142, 70361145, 70361151, 70361154, 70361160, 70361164-70361165, 70361193-70361204, 70361207-70361208, 70361212-70361216, 70361749, 70361756-70361760, 70361771-70361779
1295NLGN3X0.999597909127461248770389653
1296GJB1X0.99882629107981185270444384
1297TAF1X0.96814501935938181568270586165-70586344, 70626538
1298PHKA1X0.998638344226585367271870284-71870287, 71870295
1299SLC16A2X0.8327904451683308184273641251-73641252, 73641290-73641495, 73641523-73641524, 73641544-73641553, 73641556-73641564, 73641569, 73641645, 73641654-73641662, 73641666-73641676, 73641683-73641684, 73641721-73641755, 73641760, 73641768-73641777, 73641780, 73641784-73641785, 73641792-73641795, 73641875-73641876
1300KIAA2022X0.999780268072951455173964264
1301ABCB7X0.996905393457127226274280112-74280115, 74280123, 74290292, 74291510
1302ATRXX0.9953202299772735747976763915, 76764059, 76764062, 76813025, 76813028, 76813034, 76813094, 76845306-76845311, 76845315, 76875938, 76912106-76912112, 76912131, 76918976, 76919006-76919015, 76938076
1303PGK1X0.994417862838927125477369394-77369396, 77369555, 77369580-77369581, 77378800
1304TBX22X0.995521433141397156379277847-79277853
1305BRWD3X0.9913107783324147540979947620, 79965011-79965012, 79965018-79965020, 79965023, 79973164-79973166, 79991528, 79991584, 79999673-79999675, 80049174, 80064940-80064970
1306POU3F4X0.995395948434625108682763826, 82764040-82764042, 82764081
1307ZNF711X0.9899387576552923228684519402-84519403, 84525067-84525070, 84525079, 84525711-84525717, 84525723-84525731
1308CHMX0.995922528032628196285128131, 85166305-85166307, 85211269, 85211280, 85236772, 85236779
1309PCDH19X0.9709618874773196330699657687, 99662354-99662360, 99662998, 99663041, 99663054, 99663058-99663061, 99663153, 99663324-99663346, 99663368, 99663371, 99663382, 99663391, 99663411-99663445, 99663560-99663570, 99663576, 99663587, 99663591-99663595
1310SRPX2X0.999284692417741139899920547
1311GLAX0.996899224806241290100655671-100655674
1312COL4A5X0.98873072360617575058107821526-107821528, 107834395-107834402, 107834410-107834445, 107845144-107845145, 107909753-107909754, 107909763-107909765, 107925093-107925095
1313ACSL4X0.9967228464419572136108917637-108917639, 108917695, 108921282-108921284
1314PAK3X0.9959839357429771743110406842, 110406846, 110406850-110406851, 110406859, 110406864, 110435787
1315LAMP2X0.96601941747573421236119562389, 119562457-119562481, 119582899-119582908, 119590511, 119590574-119590578
1316CUL4BX0.96425966447848982742119681064, 119693990, 119694068-119694101, 119694110-119694140, 119694434-119694464
1317XIAPX0.9986613119143221494123025118, 123025140
1318OCRLX0.98891352549889302706128674426-128674455
1319ZDHHC9X0.9990867579908711095128940385
1320GPC3X0.99082042455536161743133119387-133119389, 133119429-133119432, 133119458-133119460, 133119463-133119468
1321PHF6X0.9990892531876111098133512067
1322HPRT1X0.9589041095890427657133594342-133594368
1323SLC9A6X0.931623931623931442106135067679-135067682, 135067686, 135067694-135067719, 135067774, 135067828, 135067840-135067843, 135067850, 135067865-135067875, 135067882-135067898, 135067926-135067977, 135106616-135106617, 135122239-135122240, 135122245-135122256, 135122266-135122275
1324ZIC3X0.893874643874641491404136648875-136648885, 136648906, 136648910-136648912, 136648917, 136648989-136648992, 136649001-136649011, 136649272-136649282, 136649287-136649290, 136649683-136649685, 136649688-136649690, 136651063-136651076, 136651095-136651105, 136651109, 136651115-136651169, 136651180-136651186, 136651194-136651199, 136651202, 136651223, 136652054
1325SOX3X0.333333333333338941341139585885-139586546, 139586588-139586615, 139586622-139586633, 139586639-139586640, 139586657-139586666, 139586672-139586691, 139586698-139586703, 139586710-139586712, 139586714-139586719, 139586725, 139586731, 139586738-139586740, 139586743-139586747, 139586753, 139586756-139586778, 139586788-139586793, 139586798-139586809, 139586814-139586844, 139586853-139586862, 139586876-139586909, 139586922-139586924, 139587106, 139587168-139587174, 139587217-139587223
1326FMR1X0.9973670352817351899147014260-147014264
1327AFF2X0.99161585365854333936147582654-147582660, 147582663, 147919188-147919197, 147919201-147919211, 147924521, 147924524-147924526
1328MTM1X0.9961368653421671812149826369-149826375
1329FAM58AX0.86394557823129100735152864420-152864480, 152864483-152864521
1330SLC6A8X0.757861635220134621908152954030-152954291, 152957499-152957500, 152959394-152959403, 152959629-152959651, 152959687-152959709, 152959799-152959860, 152960261-152960299, 152960318-152960338, 152960547-152960553, 152960657-152960669
1331ABCD1X0.856568364611263212238152990764-152990766, 152990769-152990770, 152990772-152990775, 152990888-152990895, 152990906-152990915, 152990953-152990962, 152990975, 152991016, 152991089-152991137, 152991232, 152991294-152991300, 152991385-152991391, 152991412-152991442, 152991457, 152991466, 152991470, 152991473-152991474, 152991478, 152991488-152991490, 153006138-153006144, 153008473-153008486, 153008516-153008525, 153008675-153008678, 153008705-153008734, 153008981-153008987, 153009014-153009057, 153009083-153009124, 153009137-153009156
1332L1CAMX0.9912559618442333774153128152-153128163, 153130612-153130614, 153133337, 153141269-153141285
1333AVPR2X0.98028673835125221116153171397, 153172053-153172056, 153172061-153172071, 153172085-153172090
1334MECP2X0.91249164996661311497153295951-153295964, 153295967, 153295996, 153296051, 153296184-153296217, 153297799-153297804, 153297820-153297822, 153297826-153297829, 153297876, 153297884-153297887, 153363061-153363122
1335OPN1LWX0.9296803652968771095153409780, 153416206-153416212, 153418453-153418471, 153418511-153418544, 153420105-153420120
1336OPN1MWX0.94977168949772551095153455583-153455593, 153455641-153455668, 153457235-153457250
1337OPN1MWX0.95799086757991461095153492759-153492786, 153494353-153494368, 153496106, 153496121
1338FLNAX0.970795568982882327944153577824-153577825, 153577827-153577834, 153577837, 153581459-153581460, 153581500-153581501, 153581734, 153588411, 153588596-153588599, 153593775, 153593853-153593854, 153594930-153594950, 153599265, 153599276-153599280, 153599283, 153599286-153599321, 153599330-153599340, 153599354-153599355, 153599362-153599426, 153599436-153599440, 153599452-153599453, 153599461, 153599464-153599469, 153599483, 153599494-153599500, 153599546-153599584, 153599593, 153599596-153599598, 153599601
1339EMDX0.78300653594771166765153607845-153607926, 153608050-153608117, 153608126-153608132, 153608141-153608147, 153609432, 153609435
1340TAZX0.992395437262366789153640215-153640218, 153640289, 153649054
1341GDI1X0.97395833333333351344153665602-153665608, 153665621-153665645, 153668412, 153668433, 153668486
1342G6PDX0.94871794871795841638153760226, 153760254, 153760273-153760280, 153760288, 153760428, 153760437, 153760603-153760608, 153760615-153760617, 153760673, 153760916-153760922, 153762711, 153775033-153775085
1343IKBKGX0.877049180327871801464153780321-153780322, 153786752-153786771, 153788622-153788763, 153792557-153792572
1344IKBKGX0.9672801635991816489153868355-153868370
1345DKC1X0.9993527508090611545153993782
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5SCNN1G-E197Khet unknown0.008Dominant
pathogenic
Low clinical importance,
uncertain
May cause slight increased risk of rare, CFTR-like disease.
3TTR-G26Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3TTR-T139Mhet unknown0.008Dominant
protective
Low clinical importance,
uncertain
This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect.
3TGFB1-T263Ihet unknown0.031Dominant
protective
Low clinical importance,
uncertain
Carriers may be less likely to have cleft lip and palate congenital deformity.
2.5PRF1-A91Vhet unknown0.024Complex/Other
pathogenic
Low clinical importance,
likely
This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.
2.5COL4A1-Q1334Hhet unknown0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-I395Thomozygous0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2CHIT1-A442Ghomozygous0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2MTRR-I49Mhomozygous0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
2MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.875LRP5-V667Mhet unknown0.007Recessive
pathogenic
High clinical importance,
uncertain
This 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.
1.875LRP5-A1330Vhet unknown0.120Complex/Other
pathogenic
Low clinical importance,
uncertain
In 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.
1.5NPC1-I858Vhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1.5NPC1-M642Ihomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5NPC1-H215Rhomozygous0.222Complex/Other
protective
Low clinical importance,
likely
This 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).
1.5ABCA4-P1780Ahet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report.
1.5ABCA4-G1578Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.25TP53-P72Rhet unknown0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
1.25PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25PRODH-R431Hhet unknown0.035Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated 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.
1.25SP110-M523Thomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-L425Shet unknown0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1.25SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1UMPS-G213Ahomozygous0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DSC3-N239Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSC3-R102Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DSC3-S78Thet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-E592Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ALMS1-R392Chomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-G1414Ahomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-I1875Vhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-I2070Thomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-S2111Rhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-R2284Phomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-R2826Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALMS1-N2856Shomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DSG2-I293Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSG2-E713Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCA12-D2365Nhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.86 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TTN-I32964Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T26971Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIKFYVE-R572Qhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1PIKFYVE-S696Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PIKFYVE-L932Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PIKFYVE-T998Shomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PIKFYVE-Q1183Khomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AGXT-P11Lhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AGXT-I340Mhomozygous0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1KRT6B-G97RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-N1902Ihomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1748Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-T120Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CELP-Q180*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CELP-L184PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOP10-D12Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TLR3-L412Fhomozygous0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ENO3-N71ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYBA-Y72Hhomozygous0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-N184Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BBS12-V7Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1BBS12-R386Qhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
1BBS12-D467Nhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC144350-Q193ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTHFR-R594Qhet unknown0.064Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NDUFS2-P352Ahomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EPHX1-Y113Hhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1EPHX1-H139Rhet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PVRL4-P104Thomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-L1285Ihomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-R2761Qhomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-F669Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-H632Qhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-V614Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.5DOPEY1-R2266Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5THEMIS-I192Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahet unknown0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
0.5ZBTB24-R49Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHI1-R548Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.771 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMA2-A2585Vhet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R2784Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470ShomozygousUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A4322Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-V3640Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R1919Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-G8323Ahomozygous0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A8168Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S3346Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-T888Nhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.31 (possibly damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FUCA1-Q286Rhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5IL20RA-L382Fhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5IL20RA-V259Ihomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IL20RA-S177Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5ZNF451-P597Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL9A1-Q621Rhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPX5-L85Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZFP57-R313Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC99-R20Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CCDC99-Y508Hhomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC99-L586Shomozygous0.641Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPINK5-D106Nhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6A-H655Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF4B-R580Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-A173Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G7-V379Ahomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.816 (possibly damaging)
0.5PLA2G7-R92Hhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G7-R82Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANLN-R185Khet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANLN-R695Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SEPN1-T103Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-R928Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAI2-R1032Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAH8-I573Vhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-G807Ehomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-E1202Khet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-I1531Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH8-T4440Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.334 (possibly damaging)
0.5MUC17-K227Qhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-G272Ehet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A427Thet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-P571Lhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S861Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-R942Shet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T1006Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.31 (possibly damaging)
0.5MUC17-G1040Ehet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MUC17-S1097Rhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.897 (probably damaging)
0.5MUC17-I1130Thomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5MUC17-S1242Thet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T1262Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T1305Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-G1307Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-L1348Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S1493Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5MUC17-S1846Thet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A2081Dhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A2096Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-R2159Ghet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S3285Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S3299Nhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-R4333Qhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS3-L1098Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TOPORS-N749Dhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.334 (possibly damaging), Testable gene in GeneTests
0.5DNAI1-A8Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC13B-F1096Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5RECQL4-R1005Qhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhomozygous0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATAD2-C1362Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GPAA1-K621Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5GPT-H14Nhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ECM2-P155Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ECM2-Q56Phomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.891 (probably damaging)
0.5SUSD3-K136Ehet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUSD3-R137Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SETX-I2547Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMEL1-G612Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MMEL1-M518Thet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNAPC4-R729Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GTPBP4-R248Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5POMT1-R713Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLE1-R316Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MORN1-R253Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MURC-M61Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGD-M22Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PKHD1L1-T1349Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PKHD1L1-D3437Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.78 (possibly damaging)
0.5VPS13B-A2343Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-A3691Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SVOPL-F385Chomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5SVOPL-R170*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TMUB1-R174Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FLNC-R1567Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RNF133-H290Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5AKAP9-M463Ihet unknown0.376Unknown
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 unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EIF4G3-P496Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5RLF-G957Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFA6-Q41*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RP1-N985Yhomozygous0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.5RP1-C2033Yhomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5NBN-L574Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.178 (benign), Testable gene in GeneTests with associated GeneReview
0.5NBN-E185Qhomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5PXDNL-D1452Ehomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-R1399Khomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-M981Vhomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-F94Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HR-R620Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-A172Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-P173Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R347Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CROCC-A439Vhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CLCNKB-R27Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-L155Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB11-Q4Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB11-P449Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KAT2B-R653Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5GPA33-V119Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5CNOT10-Y541Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5BTD-P391Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IRAK2-S47Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IRAK2-D431Ehet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IRAK2-T508Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DARS2-G338Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5SELP-V640Lhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SELP-D603Nhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PASK-E796Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5PASK-V250Ihet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CCBP2-V41Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CCBP2-P222Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ANO10-R462Qhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC9A10-F986Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-G826Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SLC9A10-S768Ihomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.735 (possibly damaging)
0.5SLC9A10-Q732Khomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-T424Ahomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5SLC9A10-I364Vhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1407-E696Dhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5KIAA1407-H84Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CASR-R990Ghet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF123-R387Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ZMYND10-R369Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FLG-Q2717Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H2463Dhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Tentatively evaluated as benign. Other, much more severe null mutations cause increased susceptibility ichthyosis vulgaris, atopic eczema, and allergies.
0.5FLG-S805Fhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KBTBD8-F179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ATG16L1-D121Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TOR1AIP1-M146Thet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALK-D1529Ehomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-L1033Phet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Tentatively evaluated as nonpathogenic, although other disruptive variants are associated with familial neuroblastoma.
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LYST-T1982Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746649-W43*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOB-A4481Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-A618Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATAD2B-M415Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ATAD2B-Q207Rhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKZF1-R59Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.472 (possibly damaging)
0.5ANKZF1-R585Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5LAMC2-T124Mhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTC-I182Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL3A1-A698Thomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HECW2-R796Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACAD9-A326Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5WWC2-R979Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TOE1-R341Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DEM1-G172Vhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DEM1-R344Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACOT11-R20Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5CAMK2D-P444Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAJC6-V575Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5DNAJC6-T839Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-G565Dhet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-H642Rhet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M732Ihet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M861Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-R1084Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
protective
Low clinical importance,
likely
The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IL13-Q144Rhet unknown0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL9A2-L335Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GIN1-T239Mhomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5GIN1-P139Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5AGGF1-D589Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S3646Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LIX1-P21Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5LEPR-K109Rhomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5GLMN-K53Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5KCNA2-F365Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGFR3-P451Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCL6-A493Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BCL6-R459Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BCL6-E164Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5USP13-R759Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TOPBP1-N1042Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOPBP1-K457Qhomozygous0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOPBP1-R309Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5PPP2R3A-G78Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5PPP2R3A-A171Shet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-R180Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM45-M496Thet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM45-G436Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TRIM45-C375Yhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGT2A1-V391Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5UGT2A1-E380Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGT2A1-L197Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.791 (possibly damaging)
0.5UGT2A1-Y188Hhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5UGT2A1-R75Khomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENAM-S1107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AFM-R549Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5FGF5-W81Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPATA18-I57Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5SPATA18-S227Phomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF518B-S523Nhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF518B-H266Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5ZNF518B-G262Ahomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CLNK-P31Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PITRM1-Q1037Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-L883Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-V621Ihet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.782 (possibly damaging)
0.5PITRM1-A397Vhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-F169Shet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.939 (probably damaging)
0.5PITRM1-L145Vhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALG2-V367Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG2-S11Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-M32Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.634 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-P96Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.5RPGRIP1-E1033Qhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5GNAS-A269Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1755-R1045Whet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5KIAA1755-R510*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTSL3-G713Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTSL3-L869Fhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.5ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
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-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYCP2-M1003Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SYCP2-T751Ihet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5BLM-P868Lhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGF1R-N284Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.535 (possibly damaging), Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A11-F36Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EEF2K-Q361Rhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EEF2K-D609Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CHTF18-K244Rhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHTF18-R565Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CHTF18-P928Lhet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5GFER-F166Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS21-Y211Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLX4-A1221Vhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-P1122Lhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N457Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-M386Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TAF4-Q479Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CYP2A7-V479Ghomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R381Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-M368Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CYP2A7-R311Chomozygous0.472Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-H274Rhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-S153Ahomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BRWD1-L1699Phomozygous0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRWD1-Q1175*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-R447Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5UMODL1-M559Thet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-Q665*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5UMODL1-R691Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMODL1-T741Phet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-D1336Nhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP6-E892Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5AKAP6-A1492Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP6-N2035Dhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5AKAP6-F2171Yhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5FANCM-L526Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.792 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RRP1-R323Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5WDHD1-P638Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CBR3-V244Mhomozygous0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5THBS1-N700Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL9A3-P296Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTPBP5-G47Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GTPBP5-H262Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZGPAT-S61Rhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZGPAT-R334*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LIME1-L250Phet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5TPTE-L470Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHOD1-P533Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5TMEM90B-P129Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5LOXHD1-R1090Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-K307Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPIN2-D885Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT9-P145Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5USP36-KK959Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP36-R828Chet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP36-Q806Rhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP36-V271Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5USP36-H200Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CARD14-M752Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTDP1-T340Mhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5JSRP1-D313Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5JSRP1-G150Ahet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5FCHO1-R186Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5COPE-D105Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5PRODH2-P91Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5CEACAM5-A46Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5CEACAM5-K398Ehet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCAM-R77Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5BCAM-V196Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCAM-T539Ahomozygous0.261Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TYK2-P1104Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhomozygous0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GGA3-E219Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO15A-E1433Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-C1977Rhomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNKP-P20Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.471 (possibly damaging), Testable gene in GeneTests
0.5MYH14-A1250Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPRH-I1076Vhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5PTPRH-R1038Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-V243Ihet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5ZDHHC1-R124Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5CRNKL1-Q111Hhet unknown0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-R52Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5CRNKL1-F51Lhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-G35Rhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RANBP10-V615Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5CRLS1-P193Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5GPR179-P1977Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.614 (possibly damaging)
0.5GPR179-K1150Ehet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MED1-C1266Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.858 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-M897Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-P572Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EMP3-I125Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.878 (probably damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B14-R130Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BCAT2-P215Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR5A1-I52Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5OR5A1-D183Nhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TMEM132A-R278Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TMEM132A-E825Khet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132A-A970Vhet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC35A2-P15Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5ARR3-P351Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZDHHC13-K99Rhomozygous0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZDHHC13-Y392Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CLCN5-R309Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AHNAK-G5242Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDON-I1221Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDON-E242Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CDON-V75Ihomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1706Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFA9-P294Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DMD-R2937Qhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A45-R285Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSGA10IP-R302*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TSGA10IP-M520Vhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM86C-V70Ahomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM86C-C129Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FAM86C-G141Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.679 (possibly damaging)
0.5DYNC2H1-N1576Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INSC-R36Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.319 (possibly damaging)
0.5INSC-D333Nhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5INSC-Q462Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5TRIM22-D155Nhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R321Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5GABRE-P153Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GABRE-S102Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
0.5UNC5B-V381Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CDH23-S494Nhomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-V276Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1462-R957Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SPRY3-E179Ahet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5FAM58A-E242Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM58A-T238Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IDS-V223Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.594 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAGEC1-T221Shet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAGEC1-S223Rhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAGEC1-F225Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAGEC1-L424Fhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAGEC1-A434Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAGEC1-R917Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KNDC1-E436Ghomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNDC1-P867Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5NOX1-D360Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MKI67-I2101Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-R123Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MKI67-N104Shet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5ARMS2-R38*homozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5F9-T194Ahet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-R449Whet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR11-E988Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAPGEF3-Y457Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RAPGEF3-G374Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5RAPGEF3-R193Ghomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAPGEF3-A16Phomozygous0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.14 (benign)
0.5GNB3-G272Shet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.184 (benign)
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GLT8D2-M273Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT72-D366Ehet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5KRT72-E127Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5KRT71-R305Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT71-E122Khomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5KRT71-V107Ihomozygous0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SEC14L3-D335Ehomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SEC14L3-I103Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SEC14L3-L88Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.376 (possibly damaging)
0.5SEC14L3-R63Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC11A2-S66Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT5-G543Shomozygous0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMKLR1-I62Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5SLC24A6-C559Yhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ARL11-G65Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARL11-C148Rhomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.153 (benign)
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEZ6L-W185Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5SEZ6L-P199Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5SEZ6L-M430Ihet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.712 (possibly damaging)
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SDS-K21Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC60-R131Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ZNF84-K550Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HELB-L191Phet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELB-D506Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HELB-E522Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CAPRIN2-M519Vhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BAIAP2L2-R529Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SEC14L4-E211Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5SEC14L4-S3Ghet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-R2326Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CELSR1-C1126Rhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-S664Whomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTLL12-V464Mhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5TTLL12-L318Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTLL12-V297Mhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL12-N95Shet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTLL12-P93Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PUS7L-V197Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N2081Dhet unknown0.024Unknown
benign
Low clinical importance,
uncertain
Reported as a rare, nonpathogenic variant.
0.375NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C20orf186-R138*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C20orf186-I268VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C20orf186-N320ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLOD1-A99Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25KAL1-V534Ihet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ZNF224-M118Vhet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-R3646Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.25LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-N83Shomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CACNA1S-R1658Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.25ZNF804A-Y4Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF804A-Q261Lhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF804A-E542Khet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF804A-T697TThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF804A-T707Khet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF804A-H747Rhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FRZB-R324Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.25FRZB-A30Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.25ARSE-G424Shet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-T539Ihet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25C1orf173-V1528MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-L1056Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-L851Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf173-P264Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ASTN1-H934Qhet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASTN1-H924Rhet unknown0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASTN1-W458Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ASTN1-W458Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), 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 unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCNXL2-R1984Qhomozygous0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.25PCNXL2-S1901Nhomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCNXL2-A15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XIAP-Q423Phet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25GLI2-A1156Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A16-M409Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-E84Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.553 (possibly damaging)
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP21A2-R103Khet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NR_002144-DDDFE68Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-SE75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-L77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R548Lhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRPM6-K1584Ehet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLCN1-G118Whet unknown0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTPRJ-Q276Phet unknown0.173Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign)
0.25PTPRJ-R326Qhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25SLC35C1-I227Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-H1459Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC033456-K101Ehomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC033456-Q54Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HGD-Q80Hhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XYLT2-P418Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.25XYLT2-T801Rhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-R1347Ghet unknown0.006Unknown
benign
Low clinical importance,
uncertain
Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect.
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM83G-D819DHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM83G-E20*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCA-M717Ihet unknown0.016Unknown
benign
Low clinical importance,
likely
Rare polymorphism, not considered pathogenic.
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-P496Lhet unknown0.023Unknown
benign
Low clinical importance,
uncertain
Presumed benign, seen in two healthy PGP participants.
0.25COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLXNB1-L2135Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLXNB1-D2134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K1575*het unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-N1330Dhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-E221Ghomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC2A9-P350Lhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25PIGQ-R27Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PIGQ-D4Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.043Recessive
pathogenic
Low clinical importance,
uncertain
This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.
0ITPA-P32Thet unknown0.084Recessive
pharmacogenetic
Low clinical importance,
well-established
This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,717,226,388 bases (95.9% of callable positions, 89.9% of total positions)

Coding region coverage: 31,497,005 bases (94.8% of all genes, 96.0% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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