huF4A676 - GET-Evidence variant report

Variant report for huF4A676

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1MUTYH-G369DHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause high penetrance colorectal cancer (MUTYH-Associated Polyposis) in a recessive manner (i.e. if there are two copies, or if combined with another damaging variant in the same gene). This effect is consistently reported to ClinVar by several sources (http://www.ncbi.nlm.nih.gov/clinvar/variation/5294/), indicating the evidence supporting this effect is fairly strong.1
2PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
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
5rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
6WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
7ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
8POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
9TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
10SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
11ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
12ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
13CLEC7A-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
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
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
17ABCC6-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
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19PRNP-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
20CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
0.0474066Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).1
21NPC1-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
22CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
23ABCG5-R50CLowLikelyLikely protective

Unknown, Heterozygous
0.0684142This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.1
24KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
25NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
26COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
27OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
28CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
29KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
30MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
31OTOF-R773CLowUncertainUncertain benign

Unknown, Heterozygous
0.0161654Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.1
32GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
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
33COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
34PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
35MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
36KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
37APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
38PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
39RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
40TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
41SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
42TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31188846 / 33282720 = 93.71%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.2075594656239848646138955553-955753, 957581-957624, 957633-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976991, 977001-977009, 977018-977082, 977336-977348, 977372-977385, 977390-977399, 977411-977456, 977462-977468, 977476-977525, 978619-978627, 978638-978837, 978918-978990, 979005-979112, 979203-979224, 979236-979269, 979298-979403, 979489-979535, 979550-979592, 979629-979635, 979714-979722, 979734, 979786-979799, 979809-979819, 980541-980657, 980760, 980787-980824, 980834-980842, 980845-980867, 980870-980874, 980887-980903, 981113-981142, 981146, 981149-981161, 981165, 981168-981170, 981181, 981208-981220, 981226, 981231, 981243-981256, 981344-981371, 981381, 981392, 981448-981455, 981540-981562, 981600-981645, 981777-981847, 981857-981904, 981911-982115, 982200-982262, 982279-982290, 982306-982337, 982711-982717, 982728-982763, 982772-982834, 982953-983023, 983040-983067, 983156-983270, 983392-983745, 984247-984431, 984439, 984616-984663, 984668-984731, 984736-984741, 984812-984822, 984827, 984954-984956, 984962, 984992-985016, 985035-985066, 985079-985155, 985164-985175, 985283-985297, 985320-985355, 985377-985393, 985407, 985412-985417, 985618, 985622-985625, 985631-985670, 985691-985709, 985807-985819, 985826-985935, 986106-986133, 986150, 986157-986184, 986190, 986193, 986199-986200, 986660-986749, 986833-986931, 986951-986969, 986995-987025, 987110, 987115-987127, 987131, 987146-987187, 989133-989162, 989170-989177, 989187-989228, 989238-989262, 989285-989287, 989295, 989297-989322, 989337, 989828-989858, 989887-989922, 990222-990249, 990265-990322, 990343-990356
2GABRD10.4466519499632175213591950863-1950930, 1956420-1956423, 1956489-1956493, 1956776-1956785, 1956796-1956811, 1956826, 1956957-1957080, 1957089, 1957092, 1957102-1957123, 1957131-1957138, 1957146-1957170, 1959066, 1959594-1959630, 1959700-1959726, 1960550-1960605, 1960613-1960650, 1960658-1960674, 1960677-1960689, 1960692-1960705, 1960990-1961017, 1961023, 1961026-1961028, 1961058-1961059, 1961064-1961070, 1961099, 1961130-1961144, 1961182, 1961187-1961201, 1961422-1961437, 1961461-1961464, 1961469-1961497, 1961504, 1961507-1961508, 1961524-1961525, 1961552-1961589, 1961605-1961659, 1961678-1961721
3PEX1010.520897043832824709812337224-2337262, 2337923-2337988, 2338015, 2338021, 2338027-2338035, 2338043-2338056, 2338159-2338188, 2338197-2338220, 2338236-2338238, 2338242-2338279, 2338285-2338286, 2338321-2338327, 2339938-2339940, 2339992-2340042, 2340062, 2340157-2340171, 2340177, 2340195-2340202, 2340207-2340230, 2340236-2340239, 2340267-2340279, 2340295, 2341823, 2341847, 2341863, 2343830-2343941
4NPHP410.9460406447091823142815923966-5923983, 5924547-5924548, 5924559, 5925243-5925252, 5925284, 5927121-5927123, 5935051-5935073, 5935149-5935157, 5947458-5947461, 5950991, 6021974-6021975, 6027361-6027364, 6027412-6027414, 6029287, 6029297, 6038330-6038473, 6046333-6046336
5ESPN10.623391812865596625656485016, 6485026-6485309, 6488289-6488291, 6488304, 6488319-6488364, 6488372-6488392, 6488416-6488436, 6488450-6488479, 6500389, 6500400-6500409, 6500421-6500442, 6500465-6500486, 6500500, 6500709-6500799, 6500818-6500868, 6501011-6501051, 6501059-6501065, 6505813-6505876, 6505887-6505891, 6505900, 6508716, 6508730, 6508738, 6508747, 6508882-6508928, 6508973-6508988, 6509054-6509078, 6509100-6509106, 6511677-6511726, 6511907-6511942, 6511970, 6512085, 6512098-6512133, 6517244-6517263
6PLEKHG510.8676701160238342231896527909, 6527912, 6527960-6527993, 6528155-6528180, 6528186-6528210, 6528271-6528273, 6528310, 6529112, 6529183-6529185, 6529209, 6529228-6529230, 6529401-6529411, 6529678-6529681, 6530599, 6530602, 6530795-6530864, 6530903-6530921, 6531081-6531087, 6531107-6531139, 6531142, 6531590, 6531638-6531642, 6531656, 6531662-6531675, 6532639, 6532643-6532662, 6533408-6533429, 6534126, 6534181-6534187, 6534193-6534198, 6534527, 6534531-6534545, 6534575-6534577, 6534611, 6534622-6534640, 6534646, 6535139-6535160, 6535540-6535571, 6557380-6557383
7PEX1410.9902998236331611113410535028-10535030, 10684444-10684446, 10684454, 10689786-10689789
8TARDBP10.9397590361445875124511082261, 11082322-11082362, 11082396-11082402, 11082584-11082609
9MASP210.70063076176613617206111094885-11094889, 11094893, 11094898, 11094937-11094939, 11097796, 11097800, 11097805-11097807, 11102932-11102986, 11103000, 11103010-11103014, 11103025, 11103057, 11103061-11103079, 11103407-11103558, 11103577-11103592, 11105465-11105531, 11105544, 11105549-11105587, 11106621-11106646, 11106652-11106680, 11106689-11106715, 11106746-11106790, 11106948-11106976, 11107003-11107006, 11107013-11107022, 11107051, 11107079-11107103, 11107120-11107152, 11107166-11107176, 11107260-11107264
10MTHFR10.9619482496194875197111850808-11850814, 11853964-11853995, 11854084-11854107, 11854797, 11854847, 11855230, 11856333-11856340, 11863111
11PLOD110.94276556776557125218411994837, 11994840-11994847, 11994858-11994859, 11994878-11994879, 12014887-12014888, 12014929, 12016998, 12023609-12023615, 12023662, 12023681, 12024239, 12024310-12024356, 12024820, 12024838-12024842, 12025589-12025590, 12025625-12025626, 12026314-12026322, 12027084, 12030755-12030766, 12030854-12030855, 12030858-12030873, 12034834
12CLCNKA10.78730620155039439206416349178-16349184, 16353891-16353894, 16355721-16355731, 16355780-16355794, 16356239-16356247, 16356286-16356295, 16356520-16356545, 16356966-16356981, 16356996-16357015, 16357039-16357045, 16357054-16357105, 16357117-16357124, 16357164-16357169, 16358205, 16358211-16358212, 16358226-16358235, 16358286-16358319, 16358705-16358782, 16358938-16359007, 16359680-16359684, 16359707-16359710, 16359739-16359740, 16360106-16360147
13CLCNKB10.9156976744186174206416370989-16371003, 16371067, 16371070, 16377370-16377396, 16377438, 16377461-16377463, 16377543, 16377978-16377980, 16378027, 16378275-16378282, 16378693-16378725, 16378742-16378749, 16378752, 16378767-16378821, 16380211, 16381955-16381960, 16382009-16382017
14ATP13A210.980524978831569354317312785-17312806, 17313000-17313007, 17313343, 17313633-17313635, 17313692-17313702, 17320282, 17322565, 17322948-17322951, 17323581-17323588, 17338224-17338233
15ALDH4A110.9834515366430328169219209649, 19209653-19209657, 19209685-19209692, 19209915-19209922, 19215932-19215937
16PINK110.9450171821305896174620960042, 20960065, 20960069-20960076, 20960094-20960097, 20960110-20960114, 20960145-20960157, 20960240-20960275, 20960312-20960337, 20972128-20972129
17ALPL10.9695238095238148157521889651-21889673, 21889757, 21889765-21889777, 21890664, 21890673-21890677, 21900210, 21904070-21904073
18HSPG210.96083788706745161317622149838-22149867, 22149874-22149917, 22149960, 22149966, 22149974-22149976, 22150109-22150113, 22150121-22150169, 22150199-22150201, 22150664, 22150801-22150809, 22150820, 22150825, 22150828, 22150835, 22150848, 22150854-22150869, 22151042-22151055, 22151060-22151071, 22151096-22151108, 22151197-22151206, 22154389-22154391, 22154396-22154400, 22154523-22154544, 22154590-22154603, 22154757-22154783, 22154802-22154812, 22154870-22154875, 22155352-22155356, 22155385, 22155391-22155395, 22155495-22155509, 22155553-22155572, 22155976-22155993, 22156087-22156097, 22156573-22156575, 22157531, 22157536-22157543, 22157583, 22165443-22165444, 22168059-22168061, 22168076-22168077, 22168080, 22172624-22172636, 22175243-22175245, 22178104, 22181425-22181428, 22191797-22191801, 22199137-22199144, 22199523-22199532, 22217145-22217153, 22263648-22263710
19WNT410.9204545454545584105622446590, 22456125-22456130, 22469339-22469415
20FUCA110.83083511777302237140124180973, 24186338, 24186392-24186393, 24189728, 24192009-24192010, 24194400, 24194410-24194420, 24194439-24194472, 24194533-24194555, 24194593, 24194616-24194775
21LDLRAP110.963322545846823492725870231-25870264
22SEPN110.89028776978417183166826126722-26126904
23KCNQ410.9051724137931198208841249766-41249805, 41249814, 41249829-41249856, 41249873-41249900, 41249911-41249975, 41249991-41250016, 41284279, 41284290, 41284293-41284300
24CLDN1910.98370370370371167543201580-43201588, 43204234-43204235
25LEPRE110.999095431931252221143232503, 43232608
26SLC2A110.995267072346187147943424305-43424311
27EIF2B310.994849153789557135945345665-45345671
28POMGNT110.995461422087759198346662670-46662672, 46663410-46663414, 46663430
29STIL10.997931212826488386747746661-47746662, 47767911-47767916
30ORC110.999226604795052258652838936, 52841195
31DHCR2410.982591876208927155155352582-55352598, 55352659-55352668
32BSND10.99273104880582796355464875-55464881
33PCSK910.94805194805195108207955505546-55505553, 55518084, 55521666-55521706, 55521728-55521766, 55521837-55521847, 55521853, 55523145-55523151
34DPYD10.998375568551015307898144685-98144689
35COL11A110.98185816382628995457103343636, 103352363-103352372, 103363724, 103364222-103364304, 103364533-103364536
36GSTM110.8645357686453689657110230517-110230531, 110230836-110230842, 110231721, 110231936-110231938, 110231944, 110232905-110232946, 110233084-110233101, 110233138, 110233147
37NRAS10.998245614035091570115256453
38VANGL110.9987301587301621575116202369, 116206593
39NOTCH210.981121898597631407416120539665-120539714, 120539739-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572529-120572550, 120572569-120572575, 120572609-120572610, 120611960
40HFE210.999219359875111281145415823
41PRPF310.9965886939571272052150315909-150315915
42FLG10.9313966847201783612186152276359-152276367, 152276459, 152276579-152276601, 152276626, 152276696-152276729, 152276777, 152276782, 152276797-152276801, 152276823, 152276827-152276828, 152276831, 152276844, 152276848, 152276855, 152276865, 152276871, 152276886-152276907, 152277014, 152277021, 152277027, 152277035, 152277044, 152277137, 152277149, 152277168, 152277267, 152277393-152277434, 152277714-152277720, 152278049, 152278242, 152278247, 152278400-152278406, 152278481-152278487, 152278552-152278558, 152278689, 152278873-152278879, 152279278, 152279453-152279459, 152279524-152279530, 152279612-152279618, 152279757-152279763, 152279838-152279852, 152279892, 152280170, 152280173-152280176, 152280274, 152280344-152280381, 152280468-152280474, 152280570-152280600, 152280733-152280762, 152280864, 152280900, 152281052-152281058, 152281314-152281322, 152281458-152281496, 152281559-152281605, 152281665-152281710, 152281770-152281771, 152281836-152281842, 152281896-152281924, 152281991, 152282093, 152282096-152282103, 152282257-152282263, 152282478, 152282482-152282487, 152282525, 152282529, 152282744-152282770, 152282910, 152282944-152282952, 152283087, 152283265-152283270, 152283470, 152283495-152283498, 152283975-152283976, 152284167-152284212, 152284235-152284280, 152284315-152284326, 152284358-152284364, 152284398, 152284475-152284481, 152284604-152284621, 152284851-152284857, 152285084-152285087, 152285178-152285217, 152285998-152286006, 152286178-152286185, 152286328-152286329, 152286877-152286880, 152286962-152286968
43CHRNB210.99271040424122111509154544214, 154544381, 154544386-154544394
44PKLR10.99130434782609151725155269981-155269982, 155269984, 155269989-155269995, 155270043-155270047
45LMNA10.989417989417996567156104997-156104998, 156105000-156105002, 156105048
46LMNA10.99448621553885111995156104997-156104998, 156105000-156105002, 156105048, 156106960, 156108299, 156108302-156108304
47SEMA4A10.9969378827646572286156131145-156131148, 156131219-156131221
48NTRK110.99498117942284122391156830727-156830737, 156830741
49F510.9992509363295956675169510380, 169510475, 169510502, 169510515, 169510524
50NPHS210.9982638888888921152179544897-179544898
51HMCN110.99958599479536716908186062678-186062683, 186064447
52CFHR510.97485380116959431710196964908-196964913, 196967330-196967366
53ASPM10.99980831895726210434197070046, 197073928
54PKP110.96469509399358772181201282423-201282470, 201282646-201282674
55USH2A10.99993593439682115609215822037
56ADCK310.846193415637862991944227149098-227149099, 227149150, 227152719-227152739, 227152774, 227152777, 227152812-227152833, 227152843-227152850, 227152882-227152919, 227152977, 227152980, 227152983, 227152987-227152999, 227153003-227153004, 227153028-227153061, 227153372-227153375, 227153427-227153433, 227153437, 227169728, 227169757-227169803, 227170716-227170722, 227171253-227171265, 227171551-227171555, 227171805-227171808, 227171858-227171894, 227172249-227172253, 227172344-227172352, 227173023-227173026, 227174372-227174373, 227174378-227174379, 227174434-227174438
57GJC210.462878787878797091320228345480-228345488, 228345524-228345557, 228345586-228345592, 228345630-228345632, 228345645, 228345658-228345660, 228345673, 228345709, 228345718-228345783, 228345792-228345794, 228345821, 228345861-228345862, 228345876-228345937, 228345953-228345985, 228346012-228346067, 228346079-228346158, 228346200-228346203, 228346266, 228346281-228346502, 228346524-228346525, 228346535-228346550, 228346585-228346618, 228346636, 228346639-228346640, 228346655-228346702, 228346715-228346726, 228346738, 228346754, 228346759-228346760, 228346763
58ACTA110.9982363315696621134229568030-229568031
59MTR10.9992101105845233798237060942-237060944
60RYR210.99953032742888714904237729922-237729928
61NET1100.991624790619771517915454706-5454711, 5454754-5454761, 5498551
62GATA3100.9940074906367813358100728-8100735
63OPTN100.9901960784313717173413151239-13151241, 13151244-13151257
64PHYH100.9675516224188833101713330488, 13341978, 13341983-13341987, 13342014-13342039
65DCLRE1C100.9990379990382207914981867-14981868
66PTF1A100.6859169199594731098723481460-23481468, 23481516-23481540, 23481548-23481555, 23481568-23481594, 23481619-23481780, 23481801-23481841, 23481878-23481884, 23481892-23481897, 23481901-23481907, 23481910-23481911, 23481938-23481950, 23482146-23482147, 23482169
67PDSS1100.997596153846153124826986711-26986713
68MASTL100.999620781190751263727456173
69RET100.97010463378176100334543572707-43572776, 43596078, 43596083-43596084, 43600475, 43600510-43600515, 43600630-43600634, 43606712-43606713, 43613909-43613912, 43619135-43619142, 43619256
70KIAA1279100.988745980707421186670760256-70760276
71NODAL100.9865900383141814104472201231-72201243, 72201356
72CDH23100.949980111376295031005673437311, 73439203-73439230, 73439244-73439249, 73442202-73442226, 73442234-73442259, 73442326-73442329, 73447404-73447415, 73447447, 73447450, 73447457-73447458, 73447462-73447476, 73455204-73455220, 73455257, 73455265-73455268, 73455276-73455282, 73461779-73461780, 73461786-73461794, 73461797-73461800, 73461821-73461827, 73461887, 73461936-73461940, 73461957-73461968, 73462306-73462310, 73462334-73462336, 73462349-73462372, 73464675-73464700, 73464724-73464727, 73464733-73464734, 73464757-73464780, 73464785, 73464795, 73464806-73464837, 73464847-73464851, 73464875-73464887, 73468861-73468898, 73468932-73468939, 73472448-73472454, 73490270-73490274, 73490279, 73494004-73494007, 73537583, 73538060, 73550047, 73550114, 73550956, 73551073-73551092, 73552970, 73558997, 73565716, 73571157, 73571268-73571269, 73571472, 73571506-73571507, 73571712-73571717, 73571763-73571772, 73572289-73572332, 73574810, 73574846-73574852, 73574858-73574860, 73574909-73574913
73PSAP100.997460317460324157573579510-73579513
74VCL100.997944199706317340575758103-75758106, 75758109-75758111
75LDB3100.90338827838828211218488466307-88466321, 88466339-88466406, 88466422-88466475, 88469662-88469679, 88469785-88469807, 88476089, 88476141, 88476161, 88476195-88476196, 88476283-88476293, 88476318, 88476332-88476339, 88476351, 88476406, 88476499, 88476524-88476528
76GLUD1100.9689922480620252167788854417-88854436, 88854476-88854504, 88854523-88854525
77PLCE1100.9969604863221921690996006354-96006360, 96043642-96043655
78HPS1100.93637226970561342106100177345-100177393, 100177416-100177429, 100177432, 100177937-100177976, 100178012-100178014, 100185409-100185423, 100185610-100185613, 100185616, 100189604-100189609, 100190350
79FBXW4100.98950766747377131239103371107-103371109, 103371113, 103371140-103371143, 103371152, 103371526, 103454358-103454360
80HPS6100.96134020618557902328103825234, 103825277-103825299, 103825379, 103825391-103825393, 103825436, 103825440-103825463, 103825474-103825502, 103825713, 103825806-103825812
81SUFU100.98144329896907271455104352399-104352425
82CYP17A1100.98755730189915191527104590605-104590614, 104592349-104592357
83COL17A1100.9942145082332264494105816821-105816833, 105816890-105816896, 105816916, 105816919-105816923
84BAG3100.97627314814815411728121411196-121411212, 121411217-121411228, 121411268-121411274, 121411349-121411353
85ARMS2100.9598765432098813324124214496-124214508
86HTRA1100.722106722106724011443124221169-124221526, 124221542-124221548, 124221574-124221589, 124221593-124221608, 124221631-124221633, 124266226
87UROS100.9699248120300824798127477438-127477461
88HRAS110.9578947368421124570532706-532722, 532732-532734, 533471-533473, 534242
89TALDO1110.752465483234712511014747482-747521, 747529-747539, 747549-747556, 747561-747578, 755933, 755940, 755951-755967, 763346, 763359-763426, 763469-763484, 763488-763490, 763497-763498, 763877, 763881-763896, 763899, 763913-763938, 764334-764342, 764422-764433
90SLC25A22110.48251028806584503972791933-791949, 791964-791984, 792010-792039, 792056-792068, 792142-792165, 792324-792364, 792384-792431, 792452-792458, 792567, 792595-792653, 792660-792708, 792720-792727, 792870-792942, 793589-793595, 794468-794474, 794776-794820, 794865, 794870-794901, 794987-795006
91PNPLA2110.349174917491759861515819719-819905, 821670-821703, 821735-821738, 821752-821755, 821767, 821800, 821803, 821814-821860, 821988-821990, 821998-822023, 822404-822411, 822467-822502, 822582-822606, 823527-823547, 823572-823587, 823707-823746, 823799-823855, 823998-824101, 824107-824130, 824314-824382, 824404-824436, 824523-824528, 824536-824606, 824615-824621, 824637-824677, 824715-824725, 824729-824738, 824741-824833, 824840, 824842, 824849, 824860-824862
92CTSD110.7401129943502832212391774798, 1774837-1774844, 1774882-1774900, 1775033-1775062, 1775119-1775131, 1775224-1775227, 1775273-1775282, 1775315-1775368, 1778563-1778604, 1778752-1778755, 1780215, 1780249-1780265, 1780751-1780755, 1780758-1780759, 1780810-1780813, 1782576-1782591, 1782641-1782664, 1785022-1785089
93TNNI2110.469945355191262915491861454-1861468, 1861633-1861674, 1861758-1861806, 1861813-1861819, 1861847-1861862, 1862089-1862090, 1862106, 1862261-1862281, 1862335-1862381, 1862391-1862426, 1862686-1862705, 1862711-1862728, 1862750, 1862755-1862770
94TNNT3110.0952380952380957037771944111-1944121, 1944281, 1944785-1944802, 1946329-1946346, 1947925-1947939, 1950354-1950373, 1951040-1951058, 1953699-1953716, 1953719-1953721, 1954951-1955067, 1955161-1955238, 1955562-1955633, 1955648-1955675, 1955776-1955885, 1956059-1956088, 1956101-1956149, 1958193-1958233, 1959668-1959722
95H19110.99626517273576410712017829-2017831, 2018278
96IGF2110.416315049226444157112154218-2154259, 2154283-2154295, 2154308, 2154322-2154381, 2154385, 2154391-2154423, 2154428, 2154443-2154453, 2154748-2154781, 2154793-2154836, 2154859, 2154871-2154877, 2154886-2154895, 2156637-2156638, 2156641-2156649, 2156662-2156667, 2156675-2156710, 2156726-2156728, 2156741-2156743, 2156754-2156759, 2161365-2161384, 2161415, 2161446, 2161457-2161526
97TH110.15492063492063133115752185463-2185520, 2185531-2185622, 2186475-2186595, 2186898-2186974, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188240, 2188253-2188262, 2188665-2188715, 2189096-2189163, 2189362-2189409, 2189724-2189815, 2189825-2189868, 2189895, 2190880-2190929, 2190955-2191058, 2191061-2191089, 2191920-2191951, 2191965, 2191974-2191976, 2191992-2192000, 2192927-2192945, 2192969-2192994, 2193005-2193011, 2193015-2193016
98KCNQ1110.7483998030526851120312466329-2466418, 2466432-2466654, 2466680-2466714, 2591867-2591887, 2591911-2591929, 2591943, 2592555-2592576, 2592627-2592633, 2593243-2593289, 2593306-2593337, 2604696-2604702, 2604737, 2606527, 2606534, 2608832, 2608835, 2610035, 2683285
99CDKN1C110.0588853838065198959512905234-2905298, 2905307-2905364, 2905900-2906429, 2906436-2906557, 2906568-2906667, 2906699-2906718
100SMPD1110.99683544303797618966411936-6411941
101SBF2110.99891891891892655509812122-9812127
102ABCC8110.9966287399915716474617498291-17498306
103LDHA110.997997997998299918422422, 18427071
104WT1110.9819819819819828155432417806, 32456485-32456487, 32456490-32456494, 32456498-32456500, 32456572, 32456575, 32456619-32456621, 32456681-32456682, 32456730-32456737, 32456826
105ALX4110.993527508090618123644286452-44286459
106SLC35C1110.9810606060606120105645827419, 45827424, 45827449-45827451, 45827610, 45827620-45827630, 45827644, 45827834, 45832580
107PEX16110.9836695485110517104145935871-45935875, 45937374-45937375, 45937383, 45939282-45939288, 45939291-45939292
108F2110.9534510433386887186946745012-46745014, 46747550-46747556, 46747606-46747638, 46747647-46747654, 46748054-46748058, 46749546-46749553, 46749641-46749645, 46750364-46750381
109MYBPC3110.9913725490196133382547367840, 47368991-47368995, 47370077-47370087, 47371606-47371607, 47371637-47371644, 47372937-47372941, 47373056
110SLC39A13110.88082437275986133111647431743-47431745, 47431748, 47431752-47431765, 47431822-47431824, 47433918-47433921, 47434003, 47434975-47434976, 47434981-47434988, 47435995-47436018, 47436357-47436386, 47436423-47436444, 47436839-47436859
111RAPSN110.81598062953995228123947459526-47459534, 47459554, 47459564, 47460300-47460316, 47460355-47460362, 47460376-47460418, 47460458, 47460461, 47463181-47463190, 47463198, 47463221, 47463233-47463252, 47463430, 47463452-47463455, 47464216-47464218, 47464226, 47464273, 47469469-47469479, 47469588-47469590, 47469638-47469644, 47469686-47469702, 47470352, 47470371-47470411, 47470431-47470449, 47470474-47470479
112TMEM216110.96590909090909926461165330-61165338
113SDHAF2110.99600798403194250161205280-61205281
114ROM1110.999053030303031105662380790
115SLC22A12110.76534296028881390166264359106-64359122, 64359135-64359141, 64359158-64359167, 64359205-64359213, 64359338-64359344, 64359383-64359387, 64359391, 64360271-64360316, 64360349, 64360927-64360935, 64360940, 64360950, 64361109-64361111, 64361126, 64361180-64361181, 64361223-64361227, 64361275, 64365999-64366002, 64366027, 64366030, 64366035-64366043, 64366078-64366083, 64366097, 64366280-64366292, 64366305-64366346, 64367155-64367205, 64367219, 64367222, 64367238, 64367247-64367290, 64367317-64367362, 64367862-64367877, 64367881, 64367893, 64367922, 64368216, 64368234, 64368237, 64368271-64368291
116PYGM110.92131277184658199252964520545-64520553, 64520575-64520587, 64520642, 64520653-64520659, 64521024-64521040, 64521078, 64521092-64521114, 64521399, 64521476-64521477, 64521785-64521816, 64522300-64522303, 64523004, 64523008, 64525756-64525777, 64525803, 64525953-64525954, 64525961-64525968, 64525971, 64526086, 64527146-64527182, 64527293-64527307
117MEN1110.90367965367965178184864571823, 64571826, 64571839-64571849, 64571975-64571976, 64571987, 64572055, 64572085, 64572092-64572093, 64572103, 64572116-64572145, 64572251-64572258, 64572517-64572518, 64572522, 64572544, 64572547, 64572615-64572618, 64573129-64573177, 64573221-64573228, 64575024-64575025, 64577240-64577262, 64577285, 64577363, 64577550-64577571, 64577578-64577581
118BBS1110.9943883277216610178266278142, 66278153-66278155, 66287105-66287106, 66288809, 66291195-66291197
119SPTBN2110.9867558901435995717366457617, 66460837, 66468190, 66468194-66468198, 66468297-66468314, 66468353, 66468409, 66468450-66468451, 66468464, 66468479, 66468513-66468540, 66468735-66468739, 66472279, 66475091-66475095, 66475164-66475178, 66475191, 66475247-66475253, 66481799
120PC110.92309867119027272353766617266, 66617450, 66617576-66617582, 66618173, 66618181, 66618184-66618188, 66618193-66618200, 66618203, 66618281, 66618284-66618287, 66618672, 66619916-66619920, 66619982, 66619985-66619990, 66631245-66631255, 66631315-66631363, 66631408-66631422, 66633658-66633695, 66633737, 66633769-66633806, 66633816-66633820, 66636428-66636429, 66637849-66637852, 66637863, 66638257, 66638601-66638604, 66638648-66638668, 66638894-66638912, 66638949-66638950, 66639193, 66639196-66639198, 66639203-66639214, 66639288-66639289
121CABP4110.5519323671497637182867222939-67222949, 67222959-67223008, 67223042-67223062, 67223076-67223099, 67223113-67223169, 67223172-67223220, 67223234, 67223237-67223260, 67223659-67223689, 67223820-67223821, 67223874-67223876, 67223884-67223894, 67225056, 67225098-67225104, 67225137, 67225859, 67225863-67225867, 67225909-67225980
122AIP110.1792547834843981599367250672-67250673, 67250726-67250727, 67254477-67254501, 67254514-67254614, 67254654-67254656, 67256738-67256875, 67256886-67256926, 67257509-67257685, 67257787-67257928, 67258259-67258435, 67258458-67258464
123NDUFS8110.4028436018957337863367799619-67799654, 67799667-67799669, 67799763, 67799766-67799803, 67800390-67800425, 67800428-67800442, 67800449-67800467, 67800600-67800631, 67800640-67800682, 67800700-67800739, 67803756, 67803763-67803778, 67803805-67803806, 67803817-67803821, 67803833-67803836, 67803844, 67803847, 67803929-67803962, 67803970-67804013, 67804047-67804051, 67804054, 67804058
124TCIRG1110.574408343361411061249367808739-67808755, 67808773-67808797, 67808823-67808826, 67808830, 67808833, 67809284, 67810110-67810157, 67810173-67810217, 67810263-67810308, 67810424-67810483, 67810838-67810846, 67810858, 67810864-67810888, 67810927-67810964, 67811038-67811045, 67811064-67811098, 67811292, 67811301-67811359, 67811370-67811374, 67811633, 67811646-67811682, 67811729-67811801, 67812488-67812497, 67812514-67812561, 67815002-67815013, 67815018, 67815022, 67815114-67815136, 67815228-67815242, 67815259, 67815268-67815269, 67815349-67815351, 67815355, 67815394-67815432, 67816346-67816364, 67816393, 67816565-67816577, 67816603-67816604, 67816611-67816613, 67816620, 67816658, 67816696, 67816700-67816741, 67817130-67817145, 67817165-67817192, 67817210-67817220, 67817227-67817240, 67817244-67817252, 67817444-67817493, 67817625, 67817629-67817631, 67817666-67817713, 67817954-67817958, 67817968-67818011, 67818048, 67818055-67818086, 67818115-67818127, 67818280-67818286
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126IGHMBP2110.9825620389000752298268671454-68671489, 68704003-68704017, 68704388
127DHCR7110.9789915966386630142871146422-71146423, 71146538-71146565
128LRTOMT110.99885844748858187671816042
129MYO7A110.663206979542722239664876853755-76853767, 76853800-76853805, 76858855-76858873, 76858895-76858944, 76858972, 76867092-76867096, 76867716-76867719, 76868021-76868031, 76869323-76869324, 76869456, 76873236, 76873353-76873367, 76873981, 76874018-76874034, 76877164-76877165, 76877190-76877208, 76883816-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888619, 76888625-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893584, 76893597-76893645, 76894113-76894202, 76895644-76895692, 76895701, 76895710-76895760, 76900393-76900464, 76900490-76900515, 76901065-76901076, 76901098, 76901116-76901152, 76901155-76901184, 76901742-76901783, 76901834-76901842, 76901848-76901849, 76901851-76901860, 76901893-76901915, 76903113-76903147, 76903154-76903160, 76903170, 76903174, 76903190-76903194, 76903199, 76903202-76903222, 76903225-76903226, 76903233, 76903270-76903323, 76905434-76905440, 76905568-76905569, 76908532-76908534, 76908576-76908578, 76908626, 76909571, 76909574, 76909612, 76909654-76909661, 76910780-76910788, 76918342-76918345
130FZD4110.998760842627012161486666094-86666095
131DYNC2H1110.99992275009656112945103052544
132ATM110.9995638425471649171108188184-108188187
133PTS110.990867579908684438112097226-112097227, 112097231, 112097245
134APOA1110.86691542288557107804116706683-116706686, 116706691-116706699, 116706705, 116706720-116706737, 116706779-116706822, 116706864-116706887, 116706932-116706938
135FXYD2110.9406392694063926438117693105-117693111, 117693266-117693271, 117693294-117693300, 117695371-117695376
136TECTA110.9996906419180226465120984267, 120989176
137ROBO3110.99519346310983204161124735525-124735544
138ACAD8110.9991987179487211248134131730
139WNK1120.973982375157361867149862732-862745, 862783-862801, 862927-862942, 862971-862980, 862985-862986, 862992-863003, 863076-863142, 863190-863207, 863258-863285
140CACNA1C120.994360615759793765612717751-2717756, 2760884-2760900, 2763042, 2783740-2783747, 2787015-2787018, 2797844
141VWF120.9875621890547310584426125722-6125728, 6127532-6127538, 6128064-6128087, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6204641
142TNFRSF1A120.99926900584795113686438584
143TPI1120.972217506976731-6976744, 6976758-6976761, 6976817, 6976836, 6976839
144ATN1120.9983207388749635737045892-7045894, 7047143, 7047153, 7050157
145CDKN1B120.99832495812395159712871099
146GYS2120.9900568181818221211221712046-21712066
147PKP2120.9864757358790834251433049542-33049549, 33049614-33049639
148COL2A1120.9968637992831514446448398055-48398067, 48398080
149MLL2120.980016853256293321661449424463-49424473, 49425510, 49425792, 49426566-49426568, 49426572-49426574, 49426602-49426647, 49426670-49426672, 49426726-49426755, 49426767-49426780, 49426783, 49426902-49426926, 49426969-49426974, 49427043-49427085, 49427221-49427231, 49427239-49427242, 49427265-49427268, 49427303-49427326, 49427574-49427580, 49430921, 49431315-49431316, 49431357-49431379, 49431537-49431551, 49431592-49431598, 49431644, 49431675-49431677, 49431691, 49431719, 49431850-49431853, 49431897-49431912, 49432631-49432636, 49433318-49433328, 49433756, 49434041-49434043
150DHH120.966414777497940119149483676, 49484099-49484135, 49488047, 49488050
151TUBA1A120.98684210526316645649522269, 49522287, 49522386, 49522468, 49522575, 49522585
152AQP2120.981617647058821581650344622, 50344941-50344949, 50349310, 50349315-50349318
153KRT81120.9571805006587665151852684032-52684067, 52684899-52684905, 52685127-52685129, 52685176-52685194
154KRT86120.9705681040383343146152696045-52696051, 52696887-52696922
155KRT6B120.9852507374631325169552844265, 52845528-52845534, 52845598-52845604, 52845677-52845686
156KRT6C120.9852507374631325169552867187-52867193, 52867257-52867273, 52867324
157RPS26120.98563218390805534856436209-56436213
158MYO1A120.998403575989785313257431826, 57436877-57436879, 57437904
159CYP27B1120.9927963326784511152758158979-58158981, 58158985, 58159893-58159898, 58159962
160TSFM120.9918200408998897858176623-58176630
161GNS120.9855334538878824165965138677, 65152959-65152981
162LEMD3120.9959795321637411273665563391, 65563395-65563404
163CEP290120.998790322580659744088472949, 88519088-88519089, 88522723, 88535054-88535058
164MMAB120.9654714475431626753110011218-110011230, 110011241, 110011256-110011267
165MVK120.9949622166246961191110034244-110034249
166TRPV4120.99503058103976132616110224587-110224593, 110236467, 110240825, 110246178-110246181
167ATP2A2120.9996804090763813129110719603
168ATXN2120.841704718417056243942111891515, 111891530, 111957684, 112036588-112036843, 112036851-112037026, 112037042-112037107, 112037159, 112037162, 112037165, 112037191-112037238, 112037247-112037318
169SDS120.993920972644386987113836406-113836411
170TBX3120.9991039426523322232115112323-115112324
171HNF1A120.940928270042191121896121416621-121416631, 121434193-121434201, 121434355-121434357, 121434385-121434391, 121434399-121434403, 121434407-121434408, 121434423, 121434451, 121434461-121434464, 121435292-121435305, 121435313-121435346, 121437347, 121437379, 121437382, 121437393, 121437398-121437399, 121437402-121437405, 121437413, 121438886, 121438919-121438921, 121438947-121438948, 121438992-121438995
172HPD120.98646362098139161182122294524-122294531, 122295335, 122295676-122295682
173EIF2B1120.9869281045751612918124116923-124116932, 124116992-124116993
174PUS1120.894859813084111351284132414268-132414297, 132414452-132414481, 132414505-132414536, 132414574, 132414621-132414625, 132414632-132414635, 132425950-132425970, 132426045-132426049, 132426284, 132426301, 132426314-132426317, 132426499
175SACS130.9999272197962211374023913618
176B3GALTL130.9712758851035443149731774222-31774240, 31774249-31774272
177FREM2130.9901156677181994951039261501-39261507, 39261568-39261570, 39261652-39261688, 39261743-39261749, 39261902-39261926, 39261972-39261978, 39262060-39262063, 39263054-39263057
178RB1130.999641191245071278748878140
179ZIC2130.829268292682932731599100634378-100634420, 100634444-100634455, 100634547-100634572, 100634585-100634613, 100634714-100634717, 100634822-100634824, 100634829, 100635008-100635013, 100635058-100635064, 100637311, 100637622, 100637659-100637660, 100637695-100637761, 100637795-100637859, 100637930-100637935
180COL4A1130.99081836327345465010110959311-110959344, 110959356, 110959359, 110959365-110959374
181F7130.311610486891399191335113760156-113760219, 113765010-113765028, 113765049, 113765052, 113765061-113765159, 113768186, 113768239-113768246, 113768260-113768274, 113769974-113770069, 113771080-113771088, 113771123-113771136, 113771797-113771829, 113771860-113771879, 113771903-113771910, 113772727-113772867, 113772873-113772896, 113772905-113772973, 113772976-113772980, 113772991-113773140, 113773156-113773242, 113773263-113773283, 113773289-113773322
182F10130.94887525562372751467113777170-113777189, 113777205-113777239, 113798273, 113798397-113798402, 113803339-113803340, 113803569-113803572, 113803818-113803824
183GRK1130.911938534278961491692114321758-114321773, 114321822-114321838, 114321876-114321877, 114321920-114321929, 114322043, 114322047-114322049, 114322055, 114322136-114322149, 114322186, 114322196-114322203, 114322241, 114322244, 114322363-114322370, 114324009-114324015, 114324027-114324030, 114325870, 114325927-114325970, 114426087-114426096
184TEP1140.999873160832061788420851770
185SLC7A7140.9980468753153623282126-23282128
186PABPN1140.944625407166125192123790700-23790702, 23790755-23790769, 23790794, 23790798, 23790863-23790865, 23790901-23790904, 23790967-23790969, 23790972-23790990, 23791010-23791011
187NRL140.957983193277313071424550534-24550548, 24550594-24550596, 24550604-24550606, 24550609, 24550614, 24550623-24550626, 24551781, 24551785, 24551818
188PCK2140.995839833593348192324572443-24572450
189FOXG1140.75578231292517359147029236532-29236549, 29236620-29236960
190COCH140.996370235934666165331344268-31344273
191CFL2140.9940119760479350135183744-35183746
192NKX2-1140.9535655058043156120636986588-36986594, 36986610, 36986697-36986715, 36986828-36986852, 36988377-36988380
193MGAT2140.996279761904765134450088122-50088126
194C14orf104140.95067621320605124251450092471, 50100683, 50100811-50100828, 50100944-50100990, 50101001-50101013, 50101088-50101096, 50101138-50101149, 50101349-50101358, 50101566-50101578
195L2HGDH140.99928160919541139250778816
196ATL1140.996991576413965166251057775-51057778, 51087334
197PYGL140.998427672955974254451410890, 51410907-51410908, 51410951
198GCH1140.8552456839309410975355369189-55369233, 55369243-55369292, 55369368-55369381
199SYNE2140.9992762015055152072464679634-64679648
200ZFYVE26140.9982939632545913762068241755-68241759, 68242678-68242685
201VSX2140.947513812154757108674706400-74706406, 74706440, 74706443-74706481, 74727545-74727553, 74727558
202MLH3140.997936726272359436275506638-75506641, 75509122-75509125, 75514338
203ESRRB140.9934512115258710152776964690-76964699
204POMT2140.9951176209498411225377786890-77786896, 77786970-77786973
205ATXN3140.9871086556169414108692530664-92530677
206AMN140.003671071953010313571362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395873, 103395992-103395993, 103395999-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
207INF2140.098433813750105167703-105167774, 105167781-105168070, 105168080-105168093, 105169442-105169554, 105169632-105169662, 105169675-105169785, 105170253-105170286, 105172372-105172427, 105172453-105172513, 105173247-105173298, 105173307-105173388, 105173590-105173604, 105173617-105173618, 105173628-105173694, 105173705-105173837, 105173847-105174339, 105174773-105174924, 105175008-105175069, 105175618-105175626, 105175633-105175660, 105175682-105175688, 105175706-105175720, 105175957-105176042, 105176425-105176495, 105176505-105176525, 105177274-105177295, 105177302-105177344, 105177416-105177523, 105177966-105177968, 105177988-105178036, 105178770-105178890, 105179165-105179329, 105179544-105179572, 105179580-105179640, 105179782-105179869, 105179872-105179900, 105179913-105179938, 105180540-105180640, 105180653-105180678, 105180680-105180683, 105180693-105180706, 105180717-105180719, 105180728-105180791, 105180798, 105180823, 105180836-105180889, 105180895-105180969, 105180980-105181054, 105181062-105181117, 105181125-105181172, 105181622-105181653, 105181660-105181661, 105181673-105181676
208NIPA1150.8151515151515218399023048995-23048999, 23086234-23086411
209UBE3A150.9863013698630136262825615777-25615783, 25616171-25616185, 25616251-25616257, 25616620-25616626
210CHST14150.9584438549955847113140763441-40763466, 40763474-40763475, 40763477-40763484, 40763492, 40763518-40763527
211CAPN3150.9938725490196115244842691763-42691777
212CDAN1150.9972855591748110368443028671-43028673, 43028679-43028685
213STRC150.9894894894894956532843897496-43897502, 43907888-43907894, 43910440, 43910863-43910903
214STRC150.996410256410267195044007350-44007356
215SPG11150.999863611565741733244914523
216DUOX2150.97568323649666113464745392326-45392337, 45392414-45392422, 45396225, 45398404-45398405, 45399084, 45403370-45403385, 45403419-45403427, 45403441-45403470, 45403585, 45403590, 45403616-45403638, 45403987, 45404048-45404054
217GATM150.9897798742138413127245670610-45670622
218SPG21150.99352750809061692765275893-65275898
219MAP2K1150.9873096446700515118266679729-66679735, 66782907-66782914
220CLN6150.989316239316241093668500485-68500493, 68521847
221HEXA150.9867924528301921159072668267-72668287
222HCN4150.83333333333333602361273614896-73614900, 73659828, 73659879-73659883, 73659889-73659897, 73659952, 73659956, 73659989-73660194, 73660217-73660522, 73660544-73660611
223MPI150.9897798742138413127275182960-75182967, 75190011-75190015
224PSTPIP1150.0735411670663471159125177310489-77310579, 77310588-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317914, 77317923-77317930, 77320193-77320223, 77320232, 77320241-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322859, 77322869-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
225POLG150.998387096774196372089876828-89876833
226MESP2150.86013400335008167119490319601-90319603, 90319606-90319631, 90319685-90319705, 90319781-90319782, 90319852-90319872, 90319909-90319941, 90319955-90319961, 90319997-90320000, 90320025, 90320032-90320048, 90320055-90320057, 90320059-90320064, 90320127-90320128, 90320146, 90320149, 90320159-90320169, 90320173, 90320217-90320223
227BLM150.998119417019288425491337459, 91337579, 91337582-91337587
228VPS33B150.9935275080906112185491565398-91565409
229IGF1R150.9958576998050717410499192892-99192904, 99500354-99500356, 99500583
230HBZ160.55244755244755192429202909-202912, 202926-202929, 202957, 202963-202965, 202996-202997, 203003, 203928-203947, 203958-203981, 203987-204021, 204046, 204064, 204070-204077, 204082, 204281-204293, 204316-204317, 204320-204326, 204335-204399
231HBA2160.72960372960373116429222913-222934, 222952-223006, 223146, 223179-223197, 223264, 223302-223319
232GNPTG160.860566448801741289181401967-1402018, 1402103-1402135, 1402240-1402248, 1402261-1402267, 1402287-1402307, 1412049, 1412300, 1412534-1412535, 1413045, 1413053
233CLCN7160.42059553349876140124181496632-1496678, 1496690, 1496693-1496709, 1497007-1497030, 1497051-1497087, 1497393-1497449, 1497461-1497508, 1497532-1497569, 1497656-1497688, 1497696-1497715, 1498356-1498454, 1498469-1498485, 1498682-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500534, 1500557-1500667, 1501624-1501687, 1502756-1502782, 1502802-1502890, 1504412-1504425, 1504462-1504466, 1505137-1505143, 1505161-1505190, 1505197-1505206, 1505732-1505767, 1506114-1506117, 1506146-1506207, 1507258-1507263, 1507296-1507338, 1507708-1507719, 1509120-1509126, 1509173-1509188, 1510426-1510432, 1510471-1510481, 1510902-1510905, 1524842-1524922, 1524961-1524974
234IGFALS160.148033126294164619321840601-1840706, 1840720-1840739, 1840755-1840844, 1840847, 1840851-1840871, 1840892-1840936, 1840943-1840982, 1840994-1841081, 1841088-1841232, 1841241-1841269, 1841272, 1841277-1841283, 1841290-1841414, 1841429-1841433, 1841440-1841476, 1841497-1841661, 1841677-1841833, 1841863-1842155, 1842168-1842196, 1842198-1842209, 1842212-1842213, 1842239-1842297, 1842314-1842316, 1842328-1842403, 1842421-1842442, 1842450, 1842459-1842496, 1842504-1842516, 1843638-1843653
235GFER160.218446601941754836182034220-2034477, 2034748-2034810, 2034840-2034865, 2034871-2034915, 2034934-2034944, 2035868, 2035874-2035879, 2035901-2035908, 2035917-2035969, 2035978, 2035992-2036002
236TSC2160.32337758112094367054242098673-2098679, 2100467, 2103343-2103353, 2103370-2103421, 2103430-2103453, 2104403, 2108767, 2108770-2108774, 2108788, 2108812-2108828, 2108835, 2110701, 2110707, 2110736-2110785, 2110800-2110814, 2111872-2111873, 2111901, 2111905-2111918, 2111927, 2111955-2111983, 2112521-2112530, 2112558-2112591, 2112973-2113054, 2114364-2114389, 2114397-2114428, 2115544, 2115555-2115591, 2115632-2115636, 2120457-2120460, 2120482, 2120491, 2120500-2120513, 2120537-2120579, 2121515-2121539, 2121558-2121609, 2121615-2121617, 2121805-2121810, 2121836-2121867, 2121872-2121916, 2121924, 2122242-2122252, 2122287-2122299, 2122348, 2122354-2122357, 2122361-2122364, 2122885-2122912, 2122930-2122951, 2122968, 2122981, 2122984, 2124201-2124375, 2125800-2125824, 2125835-2125836, 2125871-2125891, 2126069-2126073, 2126082-2126096, 2126116-2126147, 2126492-2126499, 2126512-2126586, 2127599-2127624, 2127635, 2127644-2127727, 2129033-2129197, 2129277-2129294, 2129310-2129429, 2129558-2129670, 2130166-2130194, 2130202-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136799, 2136810-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
237PKD1160.0002323420074349412909129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143548-2143739, 2143812-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
238ABCA3160.8471163245356878251152326675, 2326686-2326696, 2327666, 2327883-2327890, 2328331-2328333, 2328389-2328392, 2329095-2329116, 2331028-2331029, 2331032-2331037, 2331052-2331070, 2331098-2331104, 2331118-2331161, 2331221-2331222, 2331383-2331414, 2333226-2333227, 2333249-2333253, 2333255-2333270, 2333303-2333306, 2333336, 2333359, 2334283, 2334333, 2334342-2334355, 2334892-2334912, 2334958-2334967, 2334976-2334999, 2335455, 2335496-2335501, 2335513, 2335535-2335563, 2335573-2335604, 2335643-2335647, 2336850, 2336898-2336901, 2338032-2338034, 2338185, 2338199-2338209, 2338302-2338325, 2339435, 2339499, 2339523-2339526, 2339550-2339577, 2339595-2339598, 2342141-2342152, 2342179-2342202, 2345596-2345612, 2345619-2345653, 2345665-2345677, 2345711-2345717, 2347368, 2347413-2347430, 2347505-2347516, 2347522-2347540, 2347780, 2347784-2347785, 2347795, 2347804, 2347837-2347922, 2348494-2348519, 2348530-2348541, 2349404-2349407, 2349421-2349425, 2349428, 2349439-2349440, 2349524-2349529, 2350006-2350034, 2350098, 2350127-2350131, 2350135-2350142, 2350146, 2354074, 2354109-2354110, 2358618, 2369649-2369657, 2374415, 2376118
239MEFV160.984228473998293723463304355-3304357, 3304498-3304506, 3304608, 3304642, 3304647, 3306331, 3306334, 3306337-3306345, 3306571-3306581
240SLX4160.993097184377843855053632508-3632509, 3632545, 3633261, 3634811, 3639360, 3639451-3639452, 3639455, 3639458, 3639533, 3639536, 3639767, 3639771-3639778, 3640802, 3642824, 3645621, 3646165, 3646266-3646269, 3647402, 3647411, 3647479-3647484, 3647887
241CREBBP160.9822622458725613073293777732, 3777751, 3778031, 3778171, 3778256-3778258, 3778296-3778305, 3778395-3778396, 3778399-3778403, 3778452-3778464, 3778623-3778644, 3778803, 3778891-3778919, 3778934-3778958, 3779021, 3779071, 3779130-3779131, 3779160, 3779163-3779164, 3779317-3779320, 3779409-3779410, 3779414, 3779485, 3779706
242GLIS2160.14539682539683134615754382310-4382345, 4382352-4382356, 4382393-4382397, 4382407-4382415, 4382418, 4382433-4382453, 4383348-4383380, 4383384, 4383393-4383428, 4383449, 4383452-4383461, 4383468-4383480, 4383498-4383499, 4383502-4383520, 4384802-4384833, 4384839-4384913, 4384947-4384961, 4384966, 4384970, 4384973-4384978, 4385061-4385194, 4385276-4385387, 4386726-4386837, 4386860-4387525
243ALG1160.8444444444444421713955127985, 5128790-5128815, 5128823-5128877, 5129083-5129085, 5129096-5129103, 5130956-5131011, 5131020-5131057, 5134812-5134834, 5134869-5134875
244PMM2160.97705802968961177418905004-8905006, 8905009-8905022
245MYH11160.998821548821557594015835738-15835741, 15839069-15839071
246ABCC6160.84862588652482683451216253343-16253352, 16255306-16255318, 16255340-16255354, 16255371, 16255399-16255421, 16256851-16256863, 16256886-16256895, 16256901, 16256953-16256960, 16256977-16257029, 16257041-16257049, 16259506-16259566, 16259587-16259659, 16259677-16259682, 16259712-16259743, 16259746, 16259754, 16259757, 16259760-16259762, 16259765-16259788, 16263511-16263561, 16263584-16263593, 16263601-16263606, 16263617-16263651, 16263682-16263710, 16267141-16267163, 16267168-16267171, 16267195-16267219, 16267242-16267261, 16269774-16269798, 16269802, 16269836-16269843, 16271351-16271357, 16271368-16271373, 16271387, 16271465-16271483, 16272751-16272772, 16278829, 16313679-16313686, 16317268-16317291
247UMOD160.9651586063442567192320359889-20359911, 20359919, 20360088, 20360129-20360131, 20360188, 20360192-20360195, 20360312-20360337, 20360527-20360534
248OTOA160.9967836257309911342021696617-21696627
249COG7160.999567661046261231323403705
250CLN3160.993166287015959131728497715-28497719, 28497725-28497726, 28498798-28498799
251TUFM160.9809941520467826136828857340, 28857416-28857419, 28857558-28857570, 28857578-28857585
252ATP2A1160.96407185628743108300628893779, 28895900, 28895909, 28898575-28898589, 28898595, 28898790-28898793, 28898812, 28898857-28898885, 28898933-28898935, 28898940, 28900161-28900180, 28900269, 28906212, 28909603, 28912012, 28912108-28912131, 28912200, 28914154, 28914199
253CD19160.995212447636158167128948964-28948965, 28948998-28949001, 28949126, 28950275
254PHKG2160.9983619983622122130760142-30760143
255VKORC1160.9979674796748149231102655
256FUS160.9519291587602876158131193867-31193890, 31193904, 31195267-31195272, 31195288-31195303, 31195548-31195554, 31195661-31195675, 31196403-31196408, 31196415
257SLC5A2160.996037642397238201931499001-31499003, 31500066-31500067, 31500071-31500073
258NOD2160.998398975344225312350745520-50745523, 50745555
259SALL1160.999245283018873397551175656-51175658
260RPGRIP1L160.999746707193521394853672251
261SLC12A3160.92078887811187245309356899262-56899263, 56899343-56899349, 56904565, 56904606, 56904613, 56904619, 56911994-56912018, 56912022, 56912065-56912067, 56913070, 56913107-56913139, 56914134-56914142, 56920889-56920921, 56920977-56921001, 56921837-56921846, 56921862-56921904, 56921917-56921943, 56936334-56936344, 56938339, 56938356-56938364, 56938368
262GPR56160.9689922480620264206457684240-57684245, 57689350-57689367, 57689385, 57689417, 57693377, 57693382-57693411, 57695726, 57697370-57697375
263TK2160.963203463203463492466583949-66583970, 66584008-66584017, 66584089-66584090
264HSD11B2160.85221674876847180121867465152-67465324, 67465354-67465360
265LCAT160.72335600907029366132367973809, 67973845, 67973848, 67973911-67973918, 67973931, 67973939-67973947, 67973950, 67973953, 67973972-67974002, 67974019-67974020, 67974027-67974038, 67974060-67974069, 67974078-67974107, 67974113, 67974144-67974150, 67974162-67974164, 67974167-67974194, 67974259-67974264, 67974324-67974325, 67974369-67974381, 67976367-67976370, 67976392-67976424, 67976447-67976485, 67976574-67976621, 67976633-67976637, 67976961-67976966, 67976972-67976974, 67976979-67976980, 67976990-67977004, 67977058-67977066, 67977079, 67977087, 67977090, 67977900-67977913, 67977981, 67977989-67978004
266CDH3160.86265060240964342249068679323-68679327, 68679559-68679595, 68712666, 68712787, 68712791-68712793, 68713740-68713745, 68716297-68716335, 68718577-68718593, 68718602-68718604, 68718635-68718637, 68718664-68718703, 68718709-68718714, 68719238-68719244, 68721467-68721517, 68721530-68721567, 68725636-68725654, 68725657, 68725675, 68725712-68725715, 68725738-68725786, 68725821-68725829, 68729270, 68732206
267CDH1160.9939599848999616264968771329-68771342, 68771352-68771353
268CIRH1A160.999514798641441206169194345
269COG8160.91571506253399155183969364742-69364749, 69364762, 69364765, 69364768-69364769, 69364772-69364808, 69364824-69364839, 69373079-69373096, 69373128-69373132, 69373223-69373239, 69373270-69373296, 69373398-69373420
270AARS160.9951840385276914290770299001-70299005, 70301625, 70302185, 70302208, 70303539, 70303659-70303663
271GCSH160.877394636015336452281118142-81118144, 81129736-81129775, 81129815-81129835
272MLYCD160.92375168690958113148283932803-83932821, 83932862-83932872, 83932909-83932918, 83932924-83932928, 83932982-83933008, 83933085-83933123, 83933178, 83933248
273LRRC50160.9898989898989922217884179086-84179089, 84209859-84209876
274FOXF1160.73684210526316300114086544180-86544198, 86544207-86544253, 86544273-86544279, 86544324-86544328, 86544442-86544452, 86544499-86544515, 86544536-86544560, 86544661-86544716, 86544741-86544747, 86544854-86544877, 86544909-86544964, 86544985-86545002, 86545104, 86546639-86546645
275FOXC2160.58233731739708629150686600973, 86600976, 86600980-86600988, 86601013-86601036, 86601069-86601110, 86601183-86601195, 86601260-86601267, 86601320-86601338, 86601345-86601349, 86601409-86601414, 86601441-86601446, 86601450-86601451, 86601496, 86601502-86601533, 86601542-86601576, 86601612-86601615, 86601640-86601650, 86601667-86601692, 86601709-86601891, 86601911-86601914, 86601940-86601967, 86601987-86601994, 86602002-86602065, 86602153-86602156, 86602169-86602174, 86602180-86602210, 86602261-86602307, 86602432-86602440
276JPH3160.463729417000451205224787636843-87636865, 87636898-87636926, 87636933, 87636941-87636943, 87637055-87637070, 87637080, 87637092-87637127, 87677883-87677901, 87677927-87677975, 87678019-87678053, 87678087, 87678141-87678145, 87678193, 87678205-87678207, 87678247-87678279, 87678302-87678321, 87678324, 87678352-87678380, 87678475-87678519, 87678545-87678552, 87678581-87678596, 87678626-87678635, 87717819-87717821, 87717824-87717849, 87717863-87717872, 87723252-87723258, 87723268-87723510, 87723522-87723573, 87723580-87723587, 87723594-87723654, 87723670-87723871, 87723880, 87723883-87723941, 87723964-87724053, 87724074-87724132
277CYBA160.2363945578231344958888709761-88709979, 88712524-88712540, 88712573-88712605, 88713189-88713213, 88713240-88713246, 88713516-88713562, 88713580-88713583, 88714453-88714468, 88714500-88714522, 88717364-88717421
278APRT160.09760589318600449054388876106-88876143, 88876166-88876248, 88876478-88876548, 88876845-88876955, 88877958-88878064, 88878228-88878307
279GALNS160.73486297004461416156988880847-88880852, 88880882-88880903, 88880930-88880933, 88884417-88884526, 88888997-88889036, 88889049, 88889061-88889074, 88889093-88889098, 88889101-88889103, 88891224-88891273, 88893149-88893159, 88893170, 88893183-88893195, 88907433, 88907436, 88907480, 88909114-88909115, 88909131-88909149, 88909184-88909185, 88909197, 88909223-88909237, 88923166-88923203, 88923231-88923285
280SPG7160.90033500837521238238889574829-89574876, 89574895-89574902, 89574973-89575008, 89576898, 89579400-89579406, 89592816-89592825, 89598361-89598372, 89598396-89598408, 89613151-89613152, 89614436-89614438, 89614441-89614453, 89616989-89616992, 89619432-89619439, 89619474-89619487, 89619503-89619504, 89620211, 89620307, 89620310-89620314, 89620351, 89620356, 89620894-89620898, 89623323, 89623459-89623500
281FANCA160.91391941391941376436889805011, 89805048-89805071, 89805085-89805116, 89805356, 89805564, 89805592, 89805694-89805697, 89805886-89805931, 89806432, 89806444, 89807228-89807235, 89807239, 89807244-89807247, 89809228-89809254, 89809292, 89809313-89809314, 89809333, 89811369-89811370, 89811413, 89811430-89811473, 89813253-89813259, 89815141, 89831465, 89831470, 89836382, 89836426, 89836429, 89836610, 89836632, 89836984-89836985, 89837016, 89837020, 89837023-89837030, 89837035, 89838097-89838104, 89838133, 89839752-89839760, 89839791, 89842158-89842189, 89842201-89842219, 89849273-89849274, 89862372, 89882305, 89882308-89882312, 89882945-89883010
282TUBB3160.61788617886179517135389989810-89989866, 89998981-89998982, 89998992, 89998999, 89999030, 89999033, 89999038-89999066, 89999879-89999895, 90001137, 90001141-90001145, 90001179, 90001337, 90001342-90001353, 90001366-90001367, 90001423-90001454, 90001477, 90001481-90001487, 90001516-90001518, 90001526-90001560, 90001585, 90001597, 90001603, 90001684-90001724, 90001731-90001765, 90001777-90001813, 90001820-90001845, 90001879-90001949, 90001959-90001996, 90002021, 90002028-90002030, 90002126-90002138, 90002164-90002193, 90002196-90002205
283PRPF8170.996860730593612270081557210-1557224, 1561583-1561589
284CTNS170.7423108894430631012033550763, 3559781-3559880, 3559981-3560008, 3560034-3560089, 3561299-3561316, 3561333-3561339, 3561371-3561396, 3563152-3563175, 3563228, 3563231-3563233, 3563242-3563269, 3563545-3563548, 3563562-3563567, 3563574-3563579, 3563945-3563946
285CHRNE170.846828609986522714824802097-4802106, 4802151, 4802332-4802333, 4802337, 4802355-4802383, 4802493-4802518, 4802544-4802578, 4802586-4802610, 4802613, 4802616, 4802622, 4802627, 4802639-4802647, 4802655-4802679, 4802763-4802776, 4802857, 4802861-4802866, 4804320-4804321, 4804329, 4804377-4804380, 4804423-4804434, 4804470-4804485, 4804906, 4804920, 4805361, 4805364
286AIPL1170.989610389610391211556331742-6331753
287PITPNM3170.8909401709401731929256358658, 6358670-6358805, 6358821-6358867, 6358882-6358904, 6358920-6358963, 6367556-6367562, 6374481-6374499, 6374605, 6377785-6377788, 6381415-6381417, 6382014-6382020, 6386845, 6386940-6386943, 6459705-6459726
288ACADVL170.99644308943089719687123342-7123348
289CHRNB1170.99468791500664815067348466-7348468, 7348595, 7348723, 7348727-7348728, 7350840
290GUCY2D170.9251207729468624833127906366-7906406, 7906451-7906506, 7906512, 7906519-7906522, 7906530-7906550, 7906553, 7906558-7906574, 7906601-7906606, 7906609, 7906655-7906689, 7906697, 7906734-7906740, 7906813, 7906919-7906920, 7906928-7906950, 7907170-7907172, 7907194-7907205, 7907238-7907242, 7915462-7915465, 7918654-7918658, 7918794, 7919838
291ALOX12B170.99905033238367221067979661-7979662
292HES7170.806784660766961316788024907, 8024910-8024915, 8024935, 8024941-8024960, 8024977-8025019, 8025076-8025115, 8025191-8025198, 8025329-8025340
293MYH3170.999313068864854582310555791-10555794
294ELAC2170.997581620314396248112898298-12898303
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367LDLR190.950877192982461428511242107-11242119, 11242128
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378SCN1B190.950433705080554080735521725-35521764
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380MAG190.9728867623604551188135786811, 35790529-35790543, 35790631-35790632, 35790718-35790737, 35791133-35791145
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387PRX190.9817601459188380438640903422, 40903426-40903432, 40909618-40909620, 40909628-40909657, 40909698-40909714, 40909719-40909723, 40909750-40909766
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389BCKDHA190.997757847533633133841930510-41930512
390RPS19190.99771689497717143842365273
391ATP1A3190.9834148994018561367842470753-42470762, 42470860, 42470978, 42470981-42470982, 42471277, 42471444-42471448, 42480568-42480608
392ETHE1190.979084967320261676544012098-44012112, 44012173
393BCAM190.9517753047164891188745312389-45312453, 45324041-45324066
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395BLOC1S3190.99343185550082460945682993-45682996
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403FTL190.99242424242424452849469862-49469865
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406PNKP190.9865900383141821156650364883, 50364886-50364893, 50364902-50364905, 50368404, 50370328-50370331, 50370343, 50370407-50370408
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421MATN320.999315537303221146120212328
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425C2orf7120.998448409619866386729293648-29293652, 29295445
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428SOS120.9910044977511236400239213148, 39214629, 39222319, 39222390-39222394, 39222428, 39222434, 39224394-39224407, 39224551-39224553, 39224558-39224566
429ABCG520.998977505112472195644058922-44058923
430ABCG820.9876360039564825202244099144-44099149, 44099229-44099235, 44102327, 44102360-44102365, 44102385-44102389
431LRPPRC20.9952210274790920418544222938-44222951, 44222967-44222971, 44223086
432EPCAM20.99153439153439894547596645-47596652
433MSH620.9882439382806848408348010472-48010483, 48010538-48010573
434LHCGR20.9928571428571415210048982753-48982767
435NRXN120.999322033898313442551255396-51255398
436PEX1320.9876237623762415121261258638-61258649, 61258912-61258914
437ATP6V1B120.995460440985737154271163085-71163090, 71187180
438DYSF20.9911949685534656636071801328-71801351, 71825694-71825712, 71847682-71847694
439SPR20.949109414758274078673114580, 73114741-73114743, 73114781-73114813, 73114844-73114846
440ALMS120.9998400511836221250473675929, 73828342
441SLC4A520.998242530755716341474492269, 74492280, 74492286-74492289
442MOGS20.9817024661893446251474688814-74688820, 74689005, 74689011-74689017, 74689082, 74689274, 74689598, 74691649, 74692187, 74692196-74692197, 74692288-74692297, 74692336-74692339, 74692355-74692364
443HTRA220.994916485112567137774757243-74757249
444REEP120.966996699669972060686459827, 86459830, 86564602-86564611, 86564616-86564620, 86564631-86564633
445EIF2AK320.9970158161742810335188926692-88926696, 88926730-88926732, 88926777-88926778
446TMEM12720.8563458856345910371796930893-96930894, 96930917-96930918, 96930969-96931037, 96931071, 96931074, 96931078-96931098, 96931105, 96931114-96931119
447SNRNP20020.99937607237564641196949293-96949296
448ZAP7020.99946236559141186098340688
449RANBP220.922067183462537549675109336134, 109345588-109345589, 109347230, 109352032-109352051, 109352062-109352105, 109352181-109352203, 109352635, 109357110-109357126, 109365523-109365573, 109367751-109367775, 109367871, 109367984-109367989, 109368104-109368111, 109370336-109370375, 109370398, 109371385-109371433, 109371632-109371633, 109371656-109371684, 109374945-109374977, 109378557-109378581, 109382700-109382706, 109382787-109382794, 109382920-109382946, 109383055, 109383142-109383148, 109383204-109383228, 109383268-109383274, 109383354-109383360, 109383672-109383679, 109383754-109383798, 109383949-109383974, 109384004-109384048, 109384426-109384457, 109384466-109384511, 109384597-109384634, 109384782-109384827
450MERTK20.99666666666667103000112656313-112656322
451PAX820.9992609016999311353113994178
452GLI220.852972064692297004761121555025, 121708831-121708836, 121708844-121708846, 121708969, 121708976, 121708988-121708991, 121709009, 121712951-121712972, 121728028-121728029, 121728152, 121728157-121728158, 121728161-121728176, 121729636-121729639, 121742249-121742296, 121745788-121745800, 121745829-121745844, 121745922-121745926, 121745968-121746007, 121746075-121746077, 121746080-121746083, 121746139-121746146, 121746154-121746189, 121746205-121746249, 121746280-121746282, 121746306-121746362, 121746370-121746376, 121746414-121746426, 121746432-121746464, 121746486-121746533, 121746577-121746629, 121746680-121746686, 121746789-121746794, 121746806-121746808, 121746857-121746864, 121747058-121747068, 121747096-121747106, 121747166-121747183, 121747355-121747377, 121747397-121747407, 121747429, 121747453, 121747464-121747484, 121747580-121747583, 121747657-121747662, 121747670, 121747685-121747715, 121747727-121747760, 121748038-121748039, 121748197-121748201
453BIN120.97530864197531441782127815049-127815052, 127827626-127827634, 127828338-127828340, 127864436-127864437, 127864458, 127864479, 127864482-127864505
454PROC20.89610389610391441386128180493-128180517, 128180610-128180624, 128180647-128180653, 128180663-128180728, 128180736-128180737, 128180868-128180874, 128180877-128180881, 128180907, 128186161, 128186179-128186189, 128186292-128186295
455CFC120.76339285714286159672131280363-131280392, 131280436-131280466, 131280745-131280747, 131280758, 131280779-131280834, 131285303-131285304, 131285308-131285312, 131285323, 131285340, 131285356-131285384
456LCT20.9998271092669415784136555665
457SCN2A20.9988368228647476018166171997-166172000, 166188054-166188055, 166201232
458SCN1A20.9996664999166225997166915189-166915190
459HOXD1320.98352713178295171032176957670-176957686
460PRKRA20.997876857749472942179315722, 179315757
461TTN20.9998204452956718100248179514891-179514907, 179542499
462CERKL20.97873671044403341599182468619-182468626, 182468630, 182468635-182468643, 182468695-182468709, 182468764
463COL3A120.9972733469666124401189856942, 189856954, 189860438-189860444, 189872616-189872618
464HSPD120.97270615563298471722198351835-198351861, 198351879, 198352746-198352752, 198353137-198353139, 198353143, 198353787, 198358889-198358895
465ALS220.9993968636911934974202619287-202619289
466BMPR220.9993583573949323117203420768-203420769
467ABCA1220.9998715973292217788215854156
468PNKD20.97582037996546281158219204554, 219204588-219204594, 219204755, 219204769-219204780, 219204783, 219205508, 219206257-219206258, 219206704, 219206710, 219209559
469WNT10A20.96251993620415471254219745718-219745724, 219745737-219745774, 219757841-219757842
470DES20.9794762915782291413220283272-220283280, 220283705-220283724
471OBSL120.934457916007733735691220416843-220416875, 220417286, 220417324-220417361, 220417387, 220417403, 220417411, 220435207, 220435281-220435286, 220435487-220435492, 220435509-220435537, 220435584-220435696, 220435700-220435705, 220435707, 220435720-220435760, 220435794-220435813, 220435872-220435896, 220435905-220435954
472CHRND20.97554697554698381554233390926-233390927, 233390934-233390955, 233393661, 233394686, 233394775-233394776, 233394808-233394810, 233394815-233394817, 233396071-233396072, 233396346-233396347
473AGXT20.831212892281591991179241808289, 241808304-241808319, 241808334-241808368, 241808380-241808401, 241808409-241808410, 241808413-241808415, 241808424-241808437, 241808629-241808677, 241808714, 241810087-241810116, 241810864-241810866, 241814540, 241814605, 241816982-241816995, 241818160-241818161, 241818171-241818175
474D2HGDH20.714559386973184471566242680460-242680462, 242689579-242689612, 242689648-242689659, 242689681-242689702, 242690770, 242690775-242690785, 242695294-242695304, 242695331-242695407, 242695414-242695429, 242707125-242707384
475C20orf54200.9822695035461251410741706, 742365-742379, 744357, 744524-744527, 744534-744535, 746345, 746351
476AVP200.733333333333331324953063285-3063291, 3063327-3063363, 3063403-3063447, 3063623-3063654, 3063776-3063777, 3063791-3063799
477PANK2200.978400467016933717133870107-3870127, 3870260-3870262, 3870268-3870280
478JAG1200.9939841400054722365710653356-10653366, 10654168-10654178
479THBD200.9884259259259320172823029120-23029121, 23029582, 23029688-23029704
480SNTA1200.83069828722003257151832000216-32000225, 32000381-32000384, 32000426-32000455, 32000563-32000588, 32031117-32031135, 32031166-32031211, 32031258-32031259, 32031297-32031410, 32031418-32031420, 32031424-32031426
481GDF5200.993359893758310150634025139-34025148
482ADA200.9908424908424910109243254296, 43255099, 43257767-43257773, 43280234
483CTSA200.9779559118236533149744520216, 44520221, 44520227-44520256, 44523634
484SALL4200.9699557242251795316250400850, 50401046-50401067, 50406941-50406963, 50407159-50407185, 50407219, 50407371-50407379, 50408224, 50408346-50408348, 50408361, 50418834-50418840
485STX16200.983640081799591697857246307-57246322
486GNAS200.929539295392955273857415174, 57415187-57415192, 57415241-57415270, 57415334, 57415696-57415709
487GNAS200.92581888246628231311457428996-57428998, 57429189-57429191, 57429226-57429231, 57429352, 57429445, 57429451, 57429487-57429509, 57429544-57429548, 57429608-57429657, 57429669, 57429675, 57429679-57429693, 57429739, 57429793-57429837, 57429843-57429850, 57429863-57429866, 57430057-57430064, 57430087-57430108, 57430112-57430117, 57430259-57430268, 57430293-57430294, 57430374-57430388
488EDN3200.99581589958159371757896239-57896241
489COL9A3200.74014598540146534205561448417-61448494, 61448926-61448987, 61450574-61450606, 61451281-61451334, 61452533-61452565, 61453109-61453136, 61453147-61453162, 61455805-61455833, 61455847, 61455853, 61456320-61456373, 61457170-61457176, 61457180-61457181, 61457556-61457574, 61457587-61457609, 61458141-61458170, 61458625, 61460156, 61460301-61460304, 61460981, 61461118-61461139, 61461719, 61461869-61461873, 61461900-61461926, 61463519, 61463522
490CHRNA4200.0897027600849261715188461978090-61978215, 61981011-61981433, 61981447-61981487, 61981499-61982004, 61982029-61982095, 61982105-61982118, 61982124, 61982145-61982155, 61982167, 61982178, 61982188, 61982191, 61982200-61982256, 61982260, 61982299-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
491KCNQ2200.239786177930511991261962037997-62038178, 62038193-62038209, 62038234-62038441, 62038457-62038672, 62038691-62038717, 62039767-62039770, 62039781, 62039784-62039793, 62039804, 62039807-62039828, 62039836-62039888, 62044808, 62044818-62044821, 62044851-62044883, 62044886, 62044894-62044915, 62044924, 62045441-62045454, 62045533-62045546, 62046256-62046339, 62046358, 62046380-62046441, 62046469-62046475, 62051009-62051025, 62055530-62055541, 62059720-62059788, 62062693-62062722, 62065162, 62065196-62065198, 62065238-62065245, 62069978-62070000, 62070023, 62070049, 62070951-62071061, 62073759-62073818, 62073836-62073875, 62076012-62076017, 62076020-62076043, 62076051, 62076066-62076187, 62076591-62076606, 62076632-62076717, 62078100-62078178, 62103521-62103816
492SOX18200.0536796536796541093115562679519-62679578, 62679584-62679633, 62679650-62679658, 62679664-62679667, 62679675-62679685, 62679691-62679786, 62679801, 62679812-62680315, 62680512-62680869
493IFNGR2210.9516765285996149101434775850-34775882, 34775907-34775922
494RCAN1210.891963109354418275935987186-35987215, 35987223-35987258, 35987274, 35987282-35987288, 35987303-35987310
495RUNX1210.9916839916839912144336164445, 36164451-36164461
496CLDN14210.7902777777777815172037833305-37833307, 37833387-37833388, 37833446-37833450, 37833505-37833514, 37833517-37833520, 37833549-37833593, 37833639-37833641, 37833751, 37833788-37833839, 37833898-37833904, 37833975-37833993
497CBS210.9643719806763359165644474085-44474092, 44476926-44476927, 44478962-44479000, 44479046, 44480613, 44480616, 44492154-44492160
498CSTB210.99326599326599229745196105, 45196111
499AIRE210.269841269841271196163845705890-45706007, 45706019-45706021, 45706440-45706516, 45706529-45706553, 45706891-45706906, 45706909, 45706941-45706966, 45706994-45707016, 45707400-45707408, 45707430-45707438, 45707472-45707474, 45708228-45708247, 45708254-45708341, 45709556-45709621, 45709627-45709661, 45709665, 45709871-45709906, 45709918-45709919, 45709927-45709951, 45710978-45711006, 45711012-45711044, 45711063, 45711069-45711093, 45712185-45712223, 45712229-45712250, 45712269-45712284, 45712876-45712917, 45712931-45713058, 45713672-45713674, 45713686, 45713715-45713744, 45713754-45713756, 45713762, 45713767-45713793, 45714284-45714386, 45716266-45716328, 45717539, 45717546-45717588, 45717608-45717610
500ITGB2210.7974025974026468231046306794-46306817, 46308608-46308634, 46308645-46308654, 46308659-46308762, 46308777-46308810, 46309191-46309208, 46309310, 46309333, 46309337, 46309367, 46309374, 46309378-46309379, 46309391, 46309401-46309402, 46309909-46309982, 46309988-46309994, 46310004, 46310016-46310037, 46310112-46310137, 46311738-46311765, 46311784-46311791, 46311813, 46311890-46311911, 46313319-46313340, 46313374-46313376, 46313380, 46313391-46313398, 46313404, 46313407, 46314907, 46320325, 46320374, 46320377, 46321432-46321438, 46326834-46326838
501COL18A1210.542640075973412408526546875484-46875485, 46875564, 46875609-46875613, 46875740-46875754, 46875785-46875804, 46875818-46875863, 46875872-46875876, 46875948-46875949, 46876071, 46876099-46876122, 46876154, 46876198, 46876214, 46876260-46876271, 46876284-46876315, 46876334, 46876358, 46876394, 46876412, 46876504-46876505, 46876534-46876568, 46876571-46876574, 46876581-46876583, 46876596-46876683, 46876709-46876711, 46876724, 46876735-46876747, 46876750, 46876786-46876788, 46888156-46888165, 46888192-46888199, 46888205-46888209, 46888222-46888278, 46888328-46888350, 46888381-46888382, 46888452-46888453, 46888470-46888477, 46888487-46888488, 46888492, 46888523-46888601, 46888622-46888657, 46893888-46893895, 46895413, 46895439, 46896265-46896271, 46896336-46896337, 46896354-46896394, 46897325-46897341, 46897664, 46897790-46897797, 46897835-46897837, 46897840-46897845, 46899846-46899862, 46900408-46900421, 46900424, 46900621-46900626, 46900629, 46900662-46900679, 46900702-46900722, 46900769-46900771, 46906775-46906813, 46906823-46906888, 46907363, 46907407-46907423, 46908332-46908341, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913095, 46913109-46913113, 46913119-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915299, 46915317-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924369, 46924379, 46924395-46924437, 46924440-46924468, 46925048-46925080, 46925097-46925192, 46925272-46925345, 46925752-46925807, 46925820-46925877, 46927475-46927484, 46927490-46927507, 46929270, 46929289, 46929292-46929309, 46929315, 46929343-46929345, 46929348-46929361, 46929371, 46929410, 46929420-46929421, 46929451, 46929455, 46929465-46929515, 46929994-46930035, 46930048-46930059, 46930112-46930115, 46930136, 46930141-46930155, 46930158, 46931025-46931061, 46931068-46931089, 46931105-46931111, 46931135-46931139, 46932138-46932140, 46932143, 46932166-46932192, 46932200-46932222, 46932233-46932237, 46932245-46932251, 46932278-46932284
502COL6A1210.53676708778751430308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406580, 47406866-47406886, 47406895-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409537, 47409545-47409566, 47409666-47409692, 47410172-47410198, 47410292-47410336, 47410709, 47410728-47410740, 47410893-47410912, 47410943-47410945, 47410949-47410955, 47411924-47411942, 47412091-47412130, 47412277-47412295, 47412698-47412724, 47414093, 47414118-47414143, 47417335-47417338, 47417346-47417372, 47417379-47417397, 47417614-47417667, 47417676, 47418040, 47418050-47418055, 47418312-47418313, 47418345-47418347, 47418811-47418836, 47419067, 47419107, 47419109, 47419122-47419130, 47419571-47419599, 47421191-47421200, 47421285, 47421288, 47421296, 47422261, 47422532-47422576, 47423389, 47423455-47423466, 47423507, 47423509-47423511, 47423520-47423545, 47423557, 47423649, 47423654-47423659
503COL6A2210.360784313725491956306047531395, 47531398-47531401, 47531440-47531505, 47531893-47531908, 47531918-47531931, 47531957-47531969, 47531990-47532068, 47532187-47532223, 47532243-47532247, 47532268, 47532271, 47532274-47532289, 47532339-47532364, 47532406-47532413, 47532463-47532487, 47532718-47532727, 47533981-47533987, 47535786-47535797, 47535935, 47535940-47535949, 47536291-47536317, 47536565-47536591, 47536684-47536728, 47537314-47537367, 47537788-47537843, 47538528-47538590, 47538944-47539012, 47539032-47539033, 47539702-47539738, 47539756-47539764, 47540429-47540491, 47540992-47540996, 47540999-47541016, 47541022-47541037, 47541470-47541532, 47542033-47542038, 47542052-47542072, 47542431-47542445, 47542789-47542805, 47542818-47542841, 47542851, 47544589-47544591, 47544594-47544596, 47544799-47544829, 47545180-47545209, 47545379-47545396, 47545420-47545436, 47545456-47545531, 47545699-47545706, 47545711-47545715, 47545724-47545728, 47545749-47545771, 47545826, 47545857-47545884, 47545907-47545939, 47545950, 47545952-47545987, 47545999-47546013, 47546024-47546037, 47546052-47546076, 47546082-47546088, 47546098-47546146, 47546417, 47546436-47546437, 47546441-47546445, 47551868-47552141, 47552162-47552330, 47552347-47552402, 47552436-47552466
504COL6A2210.181286549707628034247552183-47552330, 47552347-47552402, 47552436-47552502, 47552516-47552524
505FTCD210.0239852398523991587162647556904-47556914, 47556923-47556987, 47557153-47557177, 47557185-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570406, 47570414-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575391-47575430
506PCNT210.971331535311162871001147744143-47744182, 47766848-47766853, 47786588-47786627, 47786651-47786657, 47786665-47786704, 47801720-47801721, 47801726, 47831439-47831454, 47836437-47836447, 47836707-47836708, 47841885-47841906, 47847630-47847636, 47847700-47847706, 47848360, 47848368-47848369, 47848396-47848413, 47848422-47848432, 47850050-47850057, 47850119-47850127, 47850505-47850523, 47852096-47852097, 47856925-47856933, 47858220-47858226
507PEX26220.945533769063185091818561191-18561240
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509GP1BB22062162119711093-19711102, 19711377-19711987
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589TERT50.44365989997058189133991253843-1253854, 1253887, 1253939-1253946, 1254502-1254518, 1254563-1254569, 1254599-1254620, 1258713-1258714, 1258723-1258735, 1264519-1264608, 1264622, 1264632-1264645, 1264685-1264688, 1264695-1264707, 1266579-1266650, 1268635-1268748, 1271234-1271319, 1272300-1272361, 1272377-1272383, 1278779-1278786, 1278794-1278804, 1278811, 1278826, 1278838-1278868, 1278875-1278911, 1279406-1279507, 1279516-1279582, 1280273-1280303, 1280335, 1280352-1280414, 1280422-1280428, 1280437-1280453, 1282718-1282722, 1293435-1293449, 1293488, 1293556, 1293584-1293607, 1293649-1293650, 1293676-1293725, 1293787-1293808, 1293907-1293915, 1293930-1293958, 1293971-1294011, 1294032-1294041, 1294073, 1294101-1294330, 1294350-1294369, 1294420-1294423, 1294446-1294447, 1294453-1294467, 1294495-1294539, 1294547-1294754, 1294766-1294781, 1294886-1295104
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591SDHA50.94495412844037183271593264, 1594532-1594548
592NDUFS650.864513751801532-1801582
593DNAH550.9997117117117141387513916509-13916512
594FAM134B50.9926372155287811149416616829, 16616850-16616859
595NIPBL50.999881164587051841537036558
596ERCC850.997481108312343119160200651-60200652, 60200689
597SMN250.99887005649718188569372353
598HEXB50.9874326750448821167173981123-73981137, 73981175-73981177, 73981231, 73981234, 73981267
599AP3B150.999695585996961328577563392
600RASA150.999681933842241314486670036
601GPR9850.9996828920247361892190144517-90144518, 90144566-90144569
602APC50.9998827941865918532112111326
603LMNB150.920499716070411401761126113201-126113212, 126113277-126113314, 126113357-126113366, 126113441-126113480, 126113492-126113523, 126113526, 126168425-126168431
604FBN250.99656711294198308739127873204-127873205, 127873269-127873296
605SLC22A550.9964157706093261674131705948-131705953
606TGFBI50.999512670565312052135364816
607SIL150.98196248196248251386138282897-138282898, 138283041, 138283098-138283119
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609NIPAL450.97501784439686351401156887224-156887258
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611MSX250.9353233830845852804174151669, 174151707-174151712, 174151856-174151899, 174156535
612F1250.80068728522337116582176829289-176829295, 176829300, 176829572-176829597, 176829619-176829624, 176829675, 176830255-176830297, 176830310-176830314, 176830319-176830333, 176830350, 176830360-176830365, 176830371-176830373, 176830376-176830377
613F1250.536796536796548561848176829293-176829295, 176829300, 176829572-176829597, 176829619-176829624, 176829675, 176830255-176830297, 176830310-176830314, 176830319-176830333, 176830350, 176830360-176830365, 176830371-176830373, 176830376-176830383, 176830482-176830618, 176830860-176830902, 176830910-176830939, 176830945-176831004, 176831025-176831069, 176831089-176831091, 176831216-176831236, 176831255-176831283, 176831290-176831395, 176831500-176831510, 176831520-176831572, 176831586-176831626, 176831630, 176831645-176831647, 176831657-176831665, 176831815-176831816, 176831826, 176831829-176831859, 176831870-176831897, 176832060, 176832136, 176832149, 176832324-176832340, 176832355-176832368, 176832736-176832760, 176832963-176832987
614NHP250.8506493506493569462177576777-177576783, 177580550-177580551, 177580672-177580682, 177580726-177580735, 177580780-177580818
615GRM650.935079726651481712634178408673, 178410045-178410048, 178413273-178413284, 178413427-178413428, 178413455-178413464, 178413691-178413703, 178413709, 178413892-178413897, 178413934, 178413941, 178413947, 178415995, 178416012-178416014, 178417608-178417610, 178417736-178417743, 178421574-178421599, 178421667-178421698, 178421721-178421749, 178421869-178421883, 178421898-178421899
616SQSTM150.858654572940291871323179247937-179247951, 179247967-179248094, 179248103-179248141, 179250920, 179250937-179250938, 179251087, 179251257
617FLT450.2869012707722429184092180038383-180038385, 180039586-180039591, 180043388, 180043402-180043405, 180043419-180043422, 180043460-180043489, 180043900-180043905, 180043908, 180043938-180043949, 180043976, 180045770-180045828, 180045834-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046728, 180046745-180046769, 180047173-180047234, 180047250-180047308, 180047609-180047659, 180047675-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048571, 180048584-180048594, 180048597-180048601, 180048628-180048701, 180048724-180048777, 180048784-180048904, 180049731-180049787, 180049798-180049839, 180050935-180050978, 180051001-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
618FOXC160.5252707581227478916621610717-1610747, 1610757-1610798, 1610815-1610824, 1610840-1610848, 1610851-1610885, 1611049-1611114, 1611148-1611169, 1611172, 1611188-1611215, 1611256-1611314, 1611322-1611359, 1611380-1611395, 1611419-1611442, 1611453-1611477, 1611492-1611532, 1611544-1611577, 1611593, 1611601-1611608, 1611634-1611749, 1611775-1611788, 1611796, 1611802-1611820, 1611885-1611946, 1612017-1612046, 1612049-1612055, 1612104-1612110, 1612138-1612165, 1612213-1612227
619TUBB2B60.963378176382664913383225440-3225465, 3225492, 3225569-3225586, 3225734, 3225743-3225745
620ATXN160.9832516339869341244816327850-16327882, 16327885, 16327888, 16327891, 16327909, 16327912, 16327915, 16327927, 16327933
621NHLRC160.993265993265998118818122170-18122174, 18122831-18122832, 18122836
622HLA-H60.965333333333332675029855848-29855850, 29856593-29856614, 29856643
623TNXB60.75738724727838468192931976394-31976407, 31976870, 31976896-31976929, 31977074-31977096, 31977179-31977181, 31977194, 31977367-31977394, 31977525-31977555, 31977577, 31977619-31977646, 31977748, 31977825, 31977994-31978001, 31978099-31978124, 31978295, 31978480-31978485, 31978491-31978541, 31978596-31978599, 31978950-31978976, 31979418, 31979445-31979492, 31979517-31979547, 31979960-31980009, 31980043-31980091
624CYP21A260.81586021505376274148832006200-32006255, 32006273-32006284, 32006317, 32006337, 32006499-32006502, 32006533-32006540, 32006886, 32006953-32006982, 32007180-32007181, 32007583-32007588, 32007593, 32007807-32007814, 32007866-32007870, 32008183-32008187, 32008198, 32008264, 32008516-32008548, 32008646-32008647, 32008675-32008694, 32008728-32008761, 32008860-32008902
625TNXB60.931809254458328681272932009145-32009151, 32009602-32009609, 32009648-32009671, 32009789-32009834, 32009860, 32009910, 32009914-32009925, 32009928-32009931, 32010102-32010129, 32010247-32010275, 32010353-32010380, 32010479-32010511, 32010559, 32010728-32010746, 32010774, 32010834-32010858, 32010999-32011037, 32011223-32011275, 32011665-32011667, 32011789-32011812, 32011888-32011906, 32012271-32012276, 32012302-32012346, 32012371-32012401, 32012814-32012820, 32012897-32012904, 32013010-32013047, 32014153-32014161, 32023637-32023678, 32023866-32023868, 32023892-32023923, 32025865-32025925, 32025942-32025983, 32026066-32026096, 32029174-32029186, 32029210-32029227, 32029333-32029359, 32029412-32029415, 32032618-32032633, 32035676-32035678, 32035684-32035685, 32036167-32036185, 32036221, 32037459-32037463
626HLA-DQA160.820312513876832609142, 32609169, 32609173, 32609207, 32609213, 32609216, 32609236, 32609271, 32609286, 32609299, 32609312, 32609962-32609968, 32610387-32610406, 32610418-32610464, 32610471-32610516, 32610532-32610538
627HLA-DQB160.7900763358778616578632629124-32629173, 32629224-32629234, 32629955, 32632578-32632590, 32632683-32632727, 32632741-32632785
628SYNGAP160.9754464285714399403233388042-33388108, 33393629-33393633, 33410906-33410911, 33411201-33411203, 33411546-33411549, 33411652-33411665
629FANCE60.994413407821239161135420393, 35420399, 35420406-35420408, 35420420-35420423
630TULP160.9404542664211297162935479496-35479501, 35479566-35479568, 35479574, 35479987-35479999, 35480424-35480467, 35480606-35480635
631MOCS160.77917320774464422191139874374, 39883822, 39883825, 39883832, 39893422-39893589, 39895068-39895317
632RSPH960.909747292418777583143612855-43612863, 43612874, 43612903-43612923, 43612952-43612995
633RUNX260.9629629629629658156645390469-45390519, 45390524-45390530
634RIMS160.998227997637339507972892335, 72892340, 72892348, 72892364-72892369
635SLC17A560.999327956989251148874345136
636SLC35A160.9891518737672611101488218870-88218879, 88221170
637OSTM160.878606965174131221005108395482-108395492, 108395661-108395743, 108395788, 108395797, 108395800, 108395811-108395835
638ENPP160.99604031677466112778132129303-132129306, 132203568-132203574
639PEX760.990740740740749972137143907-137143915
640EPM2A60.9879518072289212996146056476, 146056582-146056592
641IYD60.998850574712641870150690316
642SYNE160.999621126013491026394152644707-152644710, 152819896, 152819924-152819927, 152823831
643TBP60.97745098039216231020170871064-170871073, 170871076, 170871079, 170871089-170871099
644LFNG70.1298245614035199211402559496-2559927, 2564329-2564377, 2564853-2564938, 2564945-2564952, 2565069, 2565075, 2565090-2565201, 2565343-2565404, 2565883-2565915, 2565933-2565989, 2566009-2566043, 2566470-2566504, 2566528-2566555, 2566780-2566828, 2566836-2566839
645PMS270.971803785245277325896013046-6013052, 6017294, 6026393, 6026647-6026652, 6029451, 6043345-6043389, 6048632, 6048639-6048649
646TWIST170.4548440065681433260919156506-19156507, 19156552-19156586, 19156616-19156627, 19156632-19156649, 19156653-19156718, 19156740-19156751, 19156758-19156944
647HOXA1370.70522707797772344116727239075-27239087, 27239114-27239117, 27239254-27239269, 27239282, 27239295-27239473, 27239476, 27239478-27239481, 27239494-27239578, 27239589-27239590, 27239598-27239624, 27239646-27239657
648GLI370.999789162977021474342005589
649PGAM270.99868766404199176244104834
650GCK70.9857244825124920140144191870-44191880, 44193003-44193011
651CCM270.7812734082397292133545039933-45039962, 45113086-45113093, 45113122, 45113129-45113170, 45113869, 45113872-45113877, 45113897-45113930, 45113939-45113992, 45115427-45115428, 45115454-45115489, 45115501-45115554, 45115602-45115609, 45115639-45115654
652EGFR70.997797963115888363355086997-55087004
653GUSB70.9943762781186111195665439666-65439669, 65439954-65439955, 65446995-65446999
654ASL70.3426523297491917139565546854-65546856, 65546916, 65546923, 65546926-65546930, 65546938, 65546954-65546984, 65547355-65547364, 65547368, 65547385-65547388, 65547391-65547398, 65547428-65547438, 65547867-65547894, 65548106, 65548109, 65548115-65548116, 65548120-65548140, 65548146-65548161, 65551582, 65551593-65551634, 65551644-65551649, 65551731-65551808, 65552321-65552348, 65552727-65552751, 65552757-65552766, 65552770-65552776, 65553794-65553908, 65554078-65554162, 65554263-65554264, 65554269-65554271, 65554276, 65554287-65554322, 65554599-65554682, 65556993-65557057, 65557544-65557588, 65557605-65557650, 65557755-65557780, 65557789-65557796, 65557832, 65557842-65557899
655KCTD770.927586206896556387066094061-66094067, 66094109-66094114, 66094127-66094131, 66094137-66094181
656SBDS70.99734395750332275366453406-66453407
657NCF170.909090909090917582572639960, 72639969, 72639983-72639989, 72640022-72640039, 72641478, 72643634, 72643703-72643723, 72648693-72648716, 72648743
658ELN70.86298850574713298217573442518-73442599, 73457014, 73457314-73457336, 73459597, 73462476, 73462485, 73462851-73462882, 73466087, 73466091, 73466096-73466097, 73466134-73466169, 73466254-73466313, 73467497, 73471984-73471989, 73471994, 73474307-73474308, 73474319, 73474706-73474708, 73475431, 73475446, 73477662, 73477667-73477668, 73477675-73477683, 73477696-73477697, 73477960, 73480044-73480051, 73480274-73480287, 73481062-73481065
659NCF170.77749360613811261117374191634, 74193618, 74193633-74193671, 74195157-74195165, 74197311, 74197315-74197316, 74197337-74197338, 74197944, 74202373-74202396, 74202423-74202426, 74202907-74203048, 74203383-74203415, 74203429, 74203462
660POR70.2853646598141460204375608780-75608790, 75608793-75608796, 75608801, 75608851, 75608855-75608859, 75609657-75609688, 75609707-75609787, 75610366-75610390, 75610408-75610467, 75610490, 75610835-75610843, 75610848-75610855, 75610869-75610887, 75610896, 75610899-75610901, 75610913-75610917, 75611542-75611640, 75612857-75612891, 75612913-75612954, 75613056-75613174, 75614095-75614146, 75614164-75614179, 75614195-75614276, 75614376-75614525, 75614897-75615167, 75615241-75615386, 75615477-75615559, 75615655-75615703, 75615713, 75615726-75615729, 75615741-75615761, 75615776-75615799
661HSPB170.7556634304207115161875932063-75932114, 75932158-75932183, 75932211, 75932219-75932250, 75932255-75932256, 75932259, 75932266-75932290, 75932313-75932315, 75932319, 75932340, 75932386-75932389, 75933167, 75933345-75933346
662ABCB470.999479166666672384087074182-87074183
663SGCE70.999262536873161135694228133
664TFR270.96841230257689762406100231077-100231082, 100238419-100238422, 100238643-100238665, 100238669, 100238700-100238720, 100238739-100238759
665SLC26A370.99477124183007122295107414403-107414410, 107414412, 107431567-107431569
666CFTR70.98379473328832724443117188713-117188742, 117188760-117188800, 117188850
667AASS70.9992808342322922781121769448-121769449
668IMPDH170.99333333333333121800128034538, 128049815, 128049878, 128049884-128049888, 128049892-128049894, 128049903
669FLNC70.90352164343367898178128470692-128470797, 128470824, 128470827, 128470829-128470930, 128470941-128471030, 128475380-128475384, 128475471, 128475623, 128477217-128477253, 128477259-128477311, 128477471-128477488, 128477525-128477540, 128477572-128477591, 128477698-128477737, 128477783, 128478097-128478099, 128478346-128478349, 128478399-128478407, 128478467-128478472, 128478688-128478735, 128478770-128478799, 128478806-128478823, 128480108-128480114, 128480699-128480709, 128480713, 128480989-128480996, 128481224-128481239, 128481321-128481322, 128481326, 128481338, 128481517-128481522, 128481527, 128481548, 128481553, 128481562, 128482285-128482288, 128482421-128482428, 128482641-128482683, 128482717-128482752, 128482928-128482929, 128482932, 128483364, 128483603, 128483610, 128483613-128483615, 128483627, 128490943-128490946, 128492704-128492705, 128493876-128493880, 128494582-128494590, 128496675
670ATP6V0A470.9992072929052722523138437403, 138437441
671BRAF70.98565840938722332301140624397-140624429
672PRSS170.8978494623655976744142458509, 142459625-142459629, 142459664-142459682, 142459863-142459878, 142460313, 142460335, 142460339, 142460366-142460397
673CNTNAP270.998498498498563996147092782-147092787
674KCNH270.913505747126443013480150644441-150644450, 150644726, 150644753, 150644765-150644780, 150644784, 150654459-150654465, 150655147-150655169, 150655195-150655225, 150655259, 150655264-150655281, 150655377-150655378, 150655416-150655441, 150655507, 150655551, 150671850-150671914, 150671996, 150671999-150672023, 150674926-150674944, 150674950-150675001
675PRKAG270.99005847953216171710151271994-151272010
676SHH70.533477321814256481389155595594-155595610, 155595614, 155595620, 155595625, 155595631, 155595635-155595652, 155595678-155595682, 155595689-155595827, 155595837-155595929, 155595937-155595964, 155595968-155595990, 155595996-155595997, 155596001, 155596003, 155596017-155596047, 155596086-155596087, 155596090-155596132, 155596141-155596172, 155596178-155596259, 155596315-155596326, 155596349-155596389, 155599045-155599102, 155599145-155599153, 155599212-155599218
677MNX170.535655058043125601206156798214-156798221, 156798256-156798276, 156798406-156798409, 156798414-156798418, 156798446-156798461, 156799253-156799264, 156799267-156799273, 156802385-156802400, 156802468-156802494, 156802519-156802540, 156802581-156802584, 156802593-156802604, 156802639-156803044
678CLN880.9953542392566848611719477-1719478, 1719524-1719525
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733LHX390.73283705541773231209139089173, 139089223-139089224, 139089305, 139089309-139089312, 139089327, 139089338-139089359, 139089378, 139089382-139089402, 139089408, 139089463-139089471, 139089501, 139089506, 139089548-139089552, 139090507, 139090522, 139090653-139090655, 139090785-139090819, 139090832-139090905, 139091532-139091536, 139091561-139091597, 139091609, 139091616-139091617, 139091681-139091684, 139094792-139094881
734INPP5E90.2935400516795913671935139324743-139324760, 139324808, 139324813, 139325454-139325466, 139325477-139325480, 139325487-139325523, 139325554-139325569, 139326276-139326437, 139326931-139326936, 139326957-139327038, 139327408-139327444, 139327481-139327527, 139327607-139327723, 139328489-139328522, 139328544-139328554, 139328575-139328586, 139329192-139329233, 139329254-139329296, 139333061, 139333064-139333065, 139333067-139333075, 139333089, 139333093, 139333101-139333196, 139333202-139333203, 139333206-139333207, 139333221-139333231, 139333256-139333263, 139333289, 139333296-139333389, 139333395-139333488, 139333501-139333504, 139333509-139333524, 139333530-139333871
735NOTCH190.1744913928012563307668139390523-139390542, 139390577-139390630, 139390644-139390660, 139390702, 139390712-139390761, 139390765, 139390773-139390797, 139390833-139390890, 139390912-139390920, 139390923-139390937, 139390948-139390957, 139390959-139391021, 139391034-139391057, 139391073-139391074, 139391077-139391080, 139391087-139391133, 139391136-139391141, 139391152-139391242, 139391270-139391300, 139391318-139391590, 139391607-139391714, 139391730-139392010, 139393351-139393357, 139393371-139393378, 139393419-139393421, 139393428-139393429, 139393564-139393602, 139393622-139393632, 139393640, 139393644-139393678, 139393700-139393706, 139395005, 139395019-139395057, 139395063-139395161, 139395170-139395263, 139395284-139395299, 139396200-139396211, 139396217-139396310, 139396328-139396358, 139396453-139396472, 139396478, 139396482-139396527, 139396540, 139396724-139396739, 139396754, 139396765-139396766, 139396769-139396774, 139396787, 139396809-139396810, 139396818-139396866, 139396874-139396921, 139396928, 139396933-139396937, 139397635-139397687, 139397712, 139397716-139397749, 139397765, 139397773, 139399125-139399268, 139399274-139399448, 139399465, 139399472-139399478, 139399504-139399509, 139399519-139399556, 139399762-139399878, 139399914-139399937, 139399947-139400038, 139400052-139400106, 139400129-139400261, 139400266-139400267, 139400276-139400304, 139400311, 139400316-139400325, 139400328-139400333, 139400979-139401091, 139401173-139401175, 139401185-139401224, 139401237-139401277, 139401292-139401329, 139401336-139401369, 139401381-139401411, 139401757-139401771, 139401778-139401814, 139401833-139401875, 139401881-139401889, 139402407-139402417, 139402427-139402429, 139402435-139402437, 139402442-139402455, 139402467-139402476, 139402503-139402584, 139402684-139402738, 139402756-139402760, 139402773-139402777, 139402786-139402819, 139402834-139402837, 139403322-139403456, 139403465-139403523, 139404196, 139404199, 139404204-139404223, 139404233, 139404249-139404261, 139404303-139404331, 139404351, 139404372-139404413, 139405105-139405233, 139405249-139405257, 139405613-139405653, 139405659-139405666, 139405675-139405723, 139407473-139407586, 139407855-139407882, 139407894, 139407901-139407924, 139407932, 139407940-139407962, 139407977-139407989, 139408962-139409090, 139409103-139409154, 139409742-139409746, 139409756, 139409760-139409852, 139409935-139410062, 139410072-139410163, 139410433-139410544, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413047-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438523, 139438547-139438554, 139440178-139440238
736AGPAT290.18518518518519682837139568204-139568299, 139568309, 139568313-139568326, 139568330-139568334, 139568347-139568379, 139569187-139569243, 139569256-139569259, 139571038-139571076, 139571413-139571477, 139571502-139571588, 139571875-139571889, 139571904-139571944, 139571952-139571984, 139571999-139572008, 139581628-139581809
737SLC34A390.0916381800140126155-140126239, 140126524-140126531, 140126542-140126566, 140126591-140126613, 140127027-140127089, 140127104-140127155, 140127236-140127260, 140127278-140127379, 140127456-140127508, 140127517-140127548, 140127557-140127567, 140127661-140127667, 140127675-140127676, 140127686-140127732, 140127736-140127751, 140127788-140127813, 140127821-140127856, 140128085-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129068, 140129081-140129183, 140130404-140130627, 140130635-140130868
738EHMT190.77213240954588883897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622828, 140622874-140622880, 140622929-140622981, 140669626-140669630, 140669698-140669704, 140671117-140671124, 140671236-140671267, 140672381-140672382, 140672392-140672395, 140672452, 140672484-140672487, 140672497-140672502, 140674093-140674099, 140706067, 140708939-140708945, 140728827-140728868, 140728928, 140728955, 140729240, 140729282-140729295, 140729339-140729376, 140729402-140729405
739SHOXX0.50967007963595431879591633-591909, 595353-595362, 595388-595408, 595434-595441, 595449-595561, 605154, 605157
740CSF2RAX0.3977011494252978613051401634, 1401647, 1401663-1401665, 1401671-1401672, 1404671-1404709, 1404730-1404743, 1404766-1404813, 1407413-1407452, 1407497-1407506, 1407523-1407524, 1407691-1407697, 1407735-1407736, 1407751, 1407765, 1409230-1409274, 1409306-1409374, 1409385-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422252, 1422816-1422868, 1424361-1424365, 1424373, 1424396-1424419, 1428303
741SMSX0.9881925522252513110121958946-21958950, 21958975-21958982
742ARXX0.9550029603315676168925031545, 25031550-25031572, 25031643-25031679, 25031688-25031696, 25031777-25031779, 25031782, 25031785, 25031891
743RPGRX0.75137322925701860345938144827-38144830, 38144954-38144959, 38145033-38145034, 38145068-38145076, 38145253-38145873, 38145890-38145908, 38145922-38145987, 38146030-38146064, 38146156-38146172, 38146240-38146256, 38146387-38146409, 38147152-38147163, 38147209, 38147213-38147237, 38147242, 38150218, 38150277
744BCORX0.999240698557334526839922161-39922164
745NYXX0.84232365145228228144641332764, 41332795-41332814, 41332899, 41332905-41332942, 41333087-41333089, 41333173-41333200, 41333276-41333284, 41333293, 41333296, 41333320-41333329, 41333356-41333388, 41333464-41333466, 41333506-41333509, 41333514-41333515, 41333518-41333519, 41333536, 41333540-41333544, 41333571-41333574, 41333616-41333650, 41333836-41333838, 41333966-41333989
746CACNA1FX0.97455342096394151593449061630-49061649, 49061688-49061703, 49061781, 49062976-49062994, 49063046-49063050, 49063191-49063204, 49063293-49063294, 49063297, 49063466-49063469, 49063514-49063525, 49065750-49065752, 49066097-49066102, 49066119, 49066123, 49066128-49066133, 49066198-49066201, 49066424-49066430, 49066815-49066819, 49067078-49067081, 49067118-49067121, 49067425-49067430, 49067453, 49067456-49067461, 49067466-49067468
747ARX0.9931234165761919276366765159-66765169, 66765172, 66766357-66766359, 66766374, 66766377, 66766380, 66766386
748TAF1X0.9977120732136613568270586196-70586202, 70586253-70586258
749SLC16A2X0.9923995656894714184273641389-73641391, 73641395-73641405
750PCDH19X0.9930429522081123330699663355-99663361, 99663560-99663567, 99663570-99663577
751AFF2X0.9982215447154573936147582629-147582635
752FAM58AX0.9537414965986434735152864488-152864521
753SLC6A8X0.867400419287212531908152954030-152954063, 152954106-152954265, 152954268, 152954286-152954291, 152959830-152959872, 152960626-152960634
754ABCD1X0.898123324396782282238152990732, 152990774-152990777, 152990842-152990847, 152990860, 152990863, 152990871-152990915, 152991002-152991003, 152991042-152991052, 152991075-152991085, 152991179-152991180, 152991217-152991221, 152991415-152991455, 152991464-152991482, 152991521-152991524, 153001803-153001810, 153002646, 153008708, 153008785-153008791, 153008984-153008987, 153009041-153009065, 153009080-153009108
755L1CAMX0.9957604663487163774153135895-153135900, 153136512-153136521
756AVPR2X0.9982078853046621116153171022-153171023
757MECP2X0.98931195724783161497153296049-153296050, 153363096-153363108, 153363117
758OPN1LWX0.9945205479452161095153420159, 153420167-153420171
759FLNAX0.7814702920443117367944153577381-153577386, 153577782, 153577802, 153577812-153577823, 153578048-153578054, 153578171-153578176, 153578214-153578234, 153579286-153579309, 153579364-153579367, 153580302-153580325, 153580344-153580350, 153580560-153580563, 153580764-153580768, 153581005-153581015, 153581140-153581153, 153581464-153581472, 153581549-153581550, 153581680-153581690, 153581707-153581739, 153581788-153581818, 153581922-153581952, 153581996-153582003, 153582008, 153582014, 153582283-153582287, 153582349-153582369, 153582529-153582536, 153582557-153582564, 153582751-153582760, 153582846-153582851, 153583026-153583044, 153583193-153583196, 153583341-153583353, 153583433-153583440, 153585809-153585831, 153585935-153585943, 153586568-153586583, 153586626, 153586631-153586637, 153586836-153586857, 153586936, 153587449-153587457, 153587491-153587500, 153587614-153587628, 153587651-153587668, 153587692-153587693, 153587700-153587735, 153587742-153587752, 153587757-153587759, 153587762-153587764, 153587768, 153587862-153587869, 153587913-153587919, 153587987-153588001, 153588011-153588012, 153588102-153588131, 153588196-153588205, 153588211, 153588264, 153588273, 153588358-153588366, 153588375, 153588381, 153588392, 153588417-153588426, 153588450-153588498, 153588525-153588539, 153588588-153588622, 153588717, 153588720-153588731, 153588763, 153588814-153588831, 153588858-153588893, 153588923-153588929, 153589690-153589729, 153589771-153589783, 153589814-153589862, 153590126-153590129, 153590134, 153590154-153590155, 153590347-153590374, 153590410, 153590414-153590427, 153590447-153590449, 153590454, 153590503-153590508, 153590663, 153590666-153590672, 153590787, 153590790-153590805, 153590941-153590944, 153591029-153591048, 153592406-153592409, 153592417-153592425, 153592506-153592507, 153592511, 153592521-153592533, 153592666-153592683, 153592736-153592740, 153592910, 153592968-153592977, 153593013-153593032, 153593083-153593087, 153593249-153593250, 153593253, 153593262-153593281, 153593315-153593325, 153593508-153593517, 153593618-153593627, 153593717-153593721, 153593799-153593800, 153593813-153593824, 153593853-153593854, 153594392-153594414, 153594438-153594460, 153594484-153594502, 153594687-153594715, 153594939-153594949, 153595117-153595169, 153595768-153595783, 153595841-153595859, 153595901, 153596011, 153596014-153596024, 153596056-153596062, 153596210-153596268, 153596293-153596297, 153596333-153596367, 153596384, 153596387, 153599241-153599247, 153599260-153599341, 153599382-153599403, 153599413-153599457, 153599468-153599480, 153599516-153599519, 153599547-153599587
760EMDX0.77647058823529171765153607880-153607907, 153607919-153607926, 153608063-153608085, 153608107-153608109, 153608115, 153608125, 153608152-153608154, 153608603-153608636, 153609113-153609148, 153609388-153609390, 153609527-153609557
761TAZX0.9746514575411920789153640212, 153640224-153640225, 153640265-153640277, 153640486-153640488, 153640551
762GDI1X0.9970238095238141344153666956-153666959
763G6PDX0.995726495726571638153760613-153760619
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PCSK9-AT471VAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-H1923Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-V730Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2MLH3-S845Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2MLH3-V741Fhet unknown0.023Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
2CASP10-V410Ihet unknown0.047Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2ABCG8-D19Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
2ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-M463Ihomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KIF23-T51Ihomozygous0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TBP-QQ94DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-T485Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TXNDC3-R336Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TXNDC3-I493Thomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-K1273ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VWDE-Q1256Khomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-C1050Yhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-G1009Rhomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-C890Fhomozygous0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-E869Khomozygous0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-Y804Hhomozygous0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-R385*homozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1VWDE-G340Dhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-F292Ihomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VWDE-R39Hhomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AMPD1-K287Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCG5-R50Chet unknown0.068Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1FAM75C1-Q1141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1MTRR-S284Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-R442Chet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-P477Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RPGRIP1-P96Qhomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTF1-G360Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRMD7-S281Lhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PCDH11Y-V917FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PCDH11Y-N1012KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC9A6-R568QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G315Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G167Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTHFR-A222Vhomozygous0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1HEATR7B2-D1529Ghomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-F890Lhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HEATR7B2-E468Vhomozygous0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign)
1HEATR7B2-W191Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCNJ10-R271Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75SHANK3-E1194Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75SHANK3-P1657Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75IKBKAP-C104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625FBN2-M1318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MGA-T716Shet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-Y1453Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AQP8-A212Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.313 (possibly damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF423-P98Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CCDC64B-L490Phet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.838 (possibly damaging)
0.5CCDC64B-Q273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC64B-R270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC64B-Q55Ehet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGBL1-R112Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-Q1010Rhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13C-I3726Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VPS13C-S2913Nhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R2482Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5VPS13C-N1955Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5VPS13C-R974Khet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AVEN-G234Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCA10-R1216Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ABCA10-M916Thomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA10-I287Vhomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ABCA10-P203Shomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhet unknown0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP8-R295Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN3-E2610Dhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R1806Qhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-G1614Shet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V1326Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R473Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF559-D18Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TYK2-P1104Ahet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R3902Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWA3B-I513Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5VWA3B-L677Vhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-V885Mhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA3B-R1245Khet unknown0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF480-G237Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MLLT1-A297Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MPND-P423Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANKRD11-P2263Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ANKRD11-A2023Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANKRD11-A971Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-D1239Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH2-T3600Ihet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-L4101Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5DNAH2-P4325Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5ZNF778-A317Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF778-I534Thet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF778-Q553Hhet unknown0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF778-N683Dhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACSF3-L2Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSF3-A17Phet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACSF3-V372Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-K911Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA0513-R100Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHX58-Q425Rhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5DHX58-T76Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF236-S166Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF236-I613Vhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-V175Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-H1414Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTYH2-F34Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTYH2-A262Thet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTYH2-S265Ahet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTYH2-T419Ihet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LLGL2-R45Hhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5LLGL2-F479Lhet unknown0.537Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LLGL2-V530Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LLGL2-A537Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BBS10-P539Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5NIN-S1837Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NIN-G1320Ehet unknown0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NIN-Q1125Phet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNA1S-R498Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOSC2-G244Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-K205Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP30-R1017Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGAP30-L591Vhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-T1056Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-M2327Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-H4084Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5HMCN1-A4720Thet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-D5087Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZNF678-C351Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CDH23-G488Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-T336Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhet unknown0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-R52Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG2-E723Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLG2-G137Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RLF-G957Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5RLF-E1784Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP4A22-R126Whet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-P385Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP4A22-L428Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5BSDC1-I234Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PRAMEF2-V67Ghet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDA-K27Qhomozygous0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R1090Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-T361Nhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP8-R952Qhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG-N3534Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H3414Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G3412Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R3404Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R3270Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.115 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2652Dhet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-K2192Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1873Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-T1523Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H980Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CHIA-N45Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-D47Nhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CHIA-R61Mhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-I339Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CHIA-F377Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CHIA-V432Ghet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTM4-K206Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GSTM4-L208Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GSTM4-Y209Fhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GSTM4-RV211KMhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RWDD3-I15Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5RWDD3-V47Ahomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RWDD3-N86Khomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CALHM1-FN40LIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MARCO-F282Shet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MARCO-E511Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.666 (possibly damaging)
0.5HSP90B1-P321Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5NCOR2-P2008Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NCOR2-A2007Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT5-D197Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5PFKM-R100Qhomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-C295Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-P263Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-D218Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-R214Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATF1-P191Ahet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6B-N21Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-C222*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-E281Delhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC5-Y309Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TTC5-Q47Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARL11-P131Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL2A1-E142Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MADD-V751Mhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhomozygous0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TH-V108Mhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN32-M91Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SMPD1-R291Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-G508Rhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP3K11-R730Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5VWF-D1472Hhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF202-K259Ehet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.948 (probably damaging)
0.5ZNF202-V154Ahet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-G775Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-M262Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1273Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG8-I439Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATM-D1853Nhomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC81-H303Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5CCDC81-Y449Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5CCDC81-Q551Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC81-L558Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-T188Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR2-R753Qhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UGT8-P226Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5UGT8-I368Mhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-V828Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-L105Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D928Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G1504Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THSD7A-R841Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-N583Dhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THSD7A-P56Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FRMD1-Q456Ehomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FRMD1-H383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.742 (possibly damaging)
0.5FRMD1-G150Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5SDHA-Y629Fhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMBN-G180Delhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMBN-A255Vhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5AMBN-L354Phet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SMO-P647Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFTR-R75Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN2-T668Shomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPSR1-N107Ihet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPSR1-C197Fhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPSR1-S241Rhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLNK-P31Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5F2RL2-M177Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.627 (possibly damaging)
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDLIM7-Y387Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDLIM7-A40Vhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX6-P939Qhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKHD1-I3658Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL22-G154Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.982 (probably damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC5CL-P499Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phet unknown0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-V265Lhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-R33*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-DRB5-G30Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-M20Thet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5HLA-DRB5-K14Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-PRE32QRMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5DSP-R1738Qhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CMAH-V478Ahomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-I181Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-G131Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-V155Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging)
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V3094Ihet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5LAMA2-R619Hhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R1844Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A1-M767Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5KIF20A-P839Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL15A1-R163Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL15A1-M204Vhet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL15A1-G446Rhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5COL15A1-P705Lhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-D1077Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5S1PR3-R243Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-Q1495Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATG7-V471Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging)
0.5TG-S523Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-P2202Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-R2676Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSDMC-M475Thomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SYCP2-T353Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.881 (probably damaging)
0.5PSCA-W118*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-W1150Rhomozygous0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-P610Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-M236Vhomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTR2C-C23Shomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-F1152Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-P833Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-V512Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.445 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DBH-A318Shet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R19629Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STK4-P416Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC19A1-H27Rhomozygous0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MSR1-P275Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PDE7A-G50Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ARSA-R496Hhet unknown0.055Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5KIAA1671-P205ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRTAP10-4-D31Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5KRTAP10-4-G285Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-R268Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRTAP10-5-Y247Chet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-V235Lhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-5-F183Chet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-VVQQ1173LVQLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT14-V452Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SPG11-D566Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375RP1-N660Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.375RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EIF2B5-T442Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP3A43-Y25Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25DYNC2H1-H341Yhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests
0.25DYNC2H1-T1288Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.149 (benign), Testable gene in GeneTests
0.25DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-T3402Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G102Rhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-F41Yhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25EPHA8-E474Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPHA8-E612Qhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAG1-K820Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADRB1-E262Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADRB1-G389Rhet unknown0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-V239Ihet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAG1-G45Rhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAG1-A7Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DCLRE1C-H243Rhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.767 (possibly damaging), Testable gene in GeneTests
0.25DCLRE1C-P171Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests
0.25DCLRE1C-G153Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRIQ3-Q245Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UBE2O-G1207Shomozygous0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UBE2O-P36Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF19-R471Whet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.25KIF19-E533*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PRDM15-S1481Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRDM15-A1115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRDM15-V266Lhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SDK2-T526Nhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SDK2-T520Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25LRRC48-N438Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC48-RA441GGRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF13B-P251Lhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN4A-S524Ghet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C17orf57-T33Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-R211*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LINGO3-R426Hhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LINGO3-R110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LINGO3-R110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A1815Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-P1646Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25OTOF-R773Chet unknown0.016Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CCDC74A-S20Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC74A-V29Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SNTG2-D146Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNTG2-T495Mhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLN5-K368Rhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA2-R2108Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP400NL-A141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EP400NL-H362Yhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25TIRAP-S180Lhet unknown0.115Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25MUC4-A5248Vhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-N4374Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-T945Shomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-G405Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC4-T398Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-T377Ihomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-F300Vhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC4-A41Phet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF500-F156Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF500-Q19Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PDCD6-AGPG12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PDCD6-L22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ECE2-H101Yhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ECE2-R668*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25PPL-Q1573Ehet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PPL-R819Shomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PPL-E698Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PPL-L335Mhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0BBS9-G110Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,746,396,389 bases (96.1% of callable positions, 89.2% of total positions)

Coding region coverage: 31,188,846 bases (93.7% of all genes, 94.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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