hu0D879F - GET-Evidence variant report

Variant report for hu0D879F

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PEX2-W250RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00799405Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes.1
2ABCG8-R543SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000185908This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia.1
3LPL-N318SModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0134783Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease.1
4TGM1-A700PModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00806452Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis.1
5PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
6COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
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
7rs5186LowLikelyLikely 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
8AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10PKP2-S140FLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00241681Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%).1
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
12TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
13PAH-V245ALowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000650678This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended.1
14WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
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
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
17BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
18ERCC6-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
19DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
20TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Homozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
21TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Homozygous
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
22rs1544410LowUncertainUncertain 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
23FUT2-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
24PCSK9-R46LModerateLikelyLikely protective

Unknown, Heterozygous
0.0101389This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers).1
25CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Homozygous
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
26PRNP-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
27CASP10-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
28NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
29CFH-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
30KCNJ11-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
31FLT4-N149DLowLikelyLikely benign

Unknown, Heterozygous
0.0725056Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.1
32PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
33EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
34MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
35RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
36PKD1-G3300RLowUncertainUncertain benign

Unknown, Heterozygous
9.6283e-05Rare, tentatively classified as benign. Other variants in this gene are reported to cause polycystic kidney disease in a dominant manner, but these were more severe null mutations (nonsense or frameshift). In addition, this was seen in a PGP participant who has not reported a family history of the disease.1
37ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
38FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
39FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
40AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
41ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
42POLG2-G416ALowUncertainUncertain benign

Unknown, Heterozygous
0.0119025Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type.1
43NEUROD1-P197HLowUncertainUncertain benign

Unknown, Heterozygous
0.0200781Tentatively presumed benign. Other disruptive mutations in this gene have been reported to cause type 2 diabetes in a dominant manner, but this was found in a PGP participant who does not report having the disease.1
44ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
45SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
46NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
47ATM-S707PLowUncertainUncertain benign

Unknown, Heterozygous
0.00818148Probably not pathogenic, several papers conclude it is not associated with breast cancer.1
48APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
49MLH3-E624QLowUncertainUncertain benign

Unknown, Heterozygous
0.00817996Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31971823 / 33282720 = 96.06%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.8152492668621711346138955553-955753, 976045-976056, 976069-976129, 976146-976148, 976158, 976174-976176, 976202-976205, 976211-976260, 976553-976674, 976687-976750, 976766-976777, 976858-976892, 976907-976933, 977049, 977067-977070, 977081-977082, 977511-977512, 977515-977516, 977522-977525, 978692, 978718-978721, 978724, 978738, 979028, 979044, 979046-979050, 979057-979067, 979076-979077, 981788, 981791, 981837-981872, 981885-981901, 981931-981937, 981946-981956, 981959-981966, 981968-981970, 981978-981989, 981995-981998, 982015-982037, 982225-982226, 983406, 983414-983416, 983422-983428, 983443, 983452-983454, 983456-983463, 983472-983474, 983493-983495, 983510-983516, 983522-983528, 983539-983557, 983568, 983571-983577, 983584-983745, 984339-984345, 984358-984360, 984648, 984662, 984704, 984711, 985169-985172, 985359-985362, 985366, 985369-985374, 985399-985402, 985621-985623, 985627-985631, 985653, 985657, 985685-985687, 985690, 986193-986217, 986664-986708, 986726-986736, 986833-986834, 986847-986853, 986887-986889
2GABRD10.944812362030917513591950863-1950930, 1957045-1957051
3PEX1010.839959225280331579812337923-2337937, 2337942, 2338257, 2340001-2340036, 2340039, 2343839-2343941
4NPHP410.996729736042981442815923975-5923977, 5925251, 5927124, 5935153-5935159, 5950963-5950964
5ESPN10.6214424951267197125656485016-6485287, 6488301-6488346, 6488378-6488392, 6500366-6500369, 6500452-6500454, 6500457, 6500460-6500472, 6500476-6500479, 6500686-6500868, 6505837-6505864, 6505879-6505920, 6505931-6505937, 6508701-6508705, 6508726-6508766, 6508791-6509059, 6509071-6509107, 6520080
6PLEKHG510.8911884603323934731896528248-6528250, 6529183-6529185, 6530354, 6530797-6530835, 6530866-6530868, 6530879-6530882, 6531095, 6534073-6534224, 6534511-6534647, 6557380-6557383
7KIF1B10.9975531714662113531310425549-10425557, 10425584-10425587
8PEX1410.995590828924165113410684422-10684425, 10689687
9TARDBP10.9887550200803214124511082356-11082362, 11082599-11082605
10MASP210.999514798641441206111103546
11MTHFR10.9934043632673813197111853986-11853988, 11854083-11854085, 11854091-11854092, 11854095-11854098, 11855401
12PLOD110.9848901098901133218411994837-11994861, 11994868-11994875
13CTRC10.99876084262701180715771131
14CLCNKA10.9694767441860563206416353048-16353094, 16353253-16353257, 16357009, 16358750, 16358950-16358951, 16360141-16360147
15CLCNKB10.9854651162790730206416378851-16378857, 16382966-16382980, 16383399-16383406
16ATP13A210.9793959920970973354317313319-17313338, 17313343, 17313587, 17313591-17313617, 17313639-17313645, 17313654, 17313680, 17313683, 17318587-17318597, 17326741-17326743
17PINK110.77835051546392387174620960042-20960428
18ALPL10.999365079365081157521904079
19HSPG210.988767455980571481317622149956, 22157510, 22160079, 22165422, 22165429, 22165432-22165434, 22170717, 22170768-22170792, 22178631-22178633, 22181414, 22182048-22182058, 22183815-22183821, 22199121, 22199126-22199134, 22199140, 22199146, 22199155-22199160, 22199176, 22199183, 22199523-22199529, 22207007-22207008, 22263648-22263710
20WNT410.915719696969789105622446721, 22446768-22446770, 22446933-22446934, 22446937, 22446942-22446946, 22469339-22469415
21GALE10.9904489016236910104724122652, 24122662, 24122694-24122701
22FUCA110.9457530335474776140124194421-24194427, 24194444-24194491, 24194511-24194517, 24194690-24194691, 24194694-24194702, 24194747, 24194750, 24194758
23LDLRAP110.905070118662358892725870190-25870277
24SEPN110.88968824940048184166826126722-26126904, 26135114
25YARS10.9930686830497811158733241582-33241592
26HPCA10.950171821305842958233359416, 33359420, 33359426, 33359431, 33359439-33359463
27COL9A210.9850241545893731207040769621, 40771429, 40781296, 40781304-40781305, 40781308, 40782805-40782807, 40782814, 40782818, 40782821, 40782851-40782869
28KCNQ410.86159003831418289208841249766-41249937, 41249952, 41249956-41249962, 41249966-41249989, 41250018, 41250078, 41284198-41284205, 41284207, 41284252-41284255, 41284258-41284263, 41284274-41284314, 41285027, 41289815-41289818, 41296867, 41296964-41296965, 41296973-41296976, 41303397-41303401, 41304035, 41304038-41304042
29CLDN1910.99407407407407467543201562-43201565
30LEPRE110.89642695612845229221143232245-43232246, 43232275-43232280, 43232284-43232291, 43232325-43232448, 43232465-43232514, 43232550, 43232553-43232555, 43232582, 43232609-43232642
31SLC2A110.9810682893847228147943395278, 43395284, 43395622-43395624, 43395635-43395639, 43424305-43424322
32MPL10.9680293501048261190843814522-43814542, 43814968-43814974, 43814978-43815009, 43815012
33MUTYH10.9802421924792931156945798769-45798784, 45799212-45799214, 45799222-45799232, 45799235
34POMGNT110.999495713565311198346660265
35ORC110.998839907192583258652849215-52849217
36CPT210.9873545776428925197753662629, 53662632-53662649, 53662696, 53662700-53662702, 53662713-53662714
37DHCR2410.84977433913604233155155341710-55341711, 55352562-55352792
38BSND10.988577362409141196355473904-55473914
39PCSK910.9769119769119848207955505522-55505526, 55505531, 55505535-55505538, 55505546-55505573, 55505576-55505579, 55521716-55521718, 55521779-55521780, 55529187
40RPE6510.998751560549312160268914375-68914376
41ABCA410.9961888009381426682294466630-94466633, 94497404-94497415, 94497419-94497420, 94497423-94497425, 94544197, 94568576-94568579
42COL11A110.98863844603262625457103354147, 103364251, 103364256, 103364261-103364266, 103364274-103364277, 103364282, 103380315-103380317, 103412468-103412475, 103435775, 103471818-103471853
43GSTM110.9786910197869114657110232911-110232917, 110235885-110235891
44NGF10.995867768595043726115828697, 115828721-115828722
45VANGL110.99301587301587111575116226600, 116226611, 116226662-116226666, 116226671-116226674
46CASQ210.9941666666666771200116244024-116244025, 116244033-116244034, 116269634, 116269639-116269640
47NOTCH210.973300970873791987416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611961-120611967, 120611985-120611988, 120612002, 120612006-120612007
48HFE210.999219359875111281145415795
49PRPF310.98732943469786262052150297493-150297495, 150297499, 150297502-150297503, 150297509, 150297513-150297514, 150297520-150297530, 150315909-150315913, 150315925
50FLG10.992040045954379712186152277245-152277292, 152277445-152277473, 152278239-152278244, 152278431-152278437, 152279403-152279409
51CHRNB210.96819085487078481509154540534-154540540, 154540551-154540576, 154544093-154544097, 154544107, 154544117, 154544120, 154544383-154544387, 154544411, 154544421
52DPM310.997289972899731369155112466
53PKLR10.9953623188405881725155264416-155264423
54LMNA10.9788359788359812567156105080-156105081, 156105763-156105765, 156106034-156106040
55LMNA10.98446115288221311995156084717-156084725, 156084738, 156084743, 156084746, 156084749, 156084767-156084769, 156105080-156105081, 156105763-156105765, 156106034-156106040, 156108307-156108309
56SEMA4A10.9982502187226642286156124443, 156126365, 156131206-156131207
57NTRK110.96277708071936892391156830727-156830782, 156830788-156830794, 156830803-156830809, 156830814-156830829, 156830864, 156830867, 156843657
58PPOX10.9993026499302611434161136689
59MPZ10.990990990990997777161275909-161275912, 161279652, 161279656, 161279711
60DDR210.9988317757009332568162688866, 162688877-162688878
61SLC19A210.96921017402945461494169454939-169454946, 169454954-169454991
62F510.9991011235955166675169497300, 169505914-169505918
63MYOC10.996039603960461515171621693-171621696, 171621706-171621707
64NPHS210.88281251351152179544865-179544999
65LAMC210.9994416527079823582183155514, 183212429
66HMCN110.99976342559735416908185897756, 185958659-185958661
67CFH10.98593073593074523696196682972-196682973, 196706649-196706651, 196706654-196706657, 196716353-196716395
68CFHR110.9899295065458210993196797238, 196797354-196797360, 196801042, 196801078
69ASPM10.998562392179411510434197073714-197073717, 197094043, 197115484, 197115489-197115490, 197115498-197115499, 197115509-197115513
70CACNA1S10.99786552828175125622201009826-201009837
71TNNT210.998873873873871888201333472
72REN10.9934479934479981221204135405-204135408, 204135414-204135417
73CD4610.9991666666666711200207925608
74USH2A10.996924851047474815609215824072-215824075, 216061828-216061846, 216061856-216061864, 216173814-216173816, 216251462-216251465, 216251494-216251497, 216496865, 216496909-216496912
75ADCK310.98559670781893281944227152768-227152778, 227171797-227171803, 227171895-227171904
76GJC210.380303030303038181320228345460-228345535, 228345543-228345551, 228345554-228345557, 228345562-228345565, 228345578-228345596, 228345604-228345613, 228345616-228345617, 228345633-228345634, 228345650, 228345673-228345681, 228345690-228345692, 228345701-228345710, 228345723-228345729, 228345748-228345752, 228345755-228345773, 228345785, 228345789-228345875, 228345894-228345904, 228345913-228345937, 228345946-228345956, 228345981-228346005, 228346012-228346163, 228346166-228346170, 228346173-228346183, 228346188, 228346191-228346198, 228346220-228346257, 228346327-228346548, 228346555-228346560, 228346577-228346591, 228346605-228346612, 228346621-228346625, 228346629-228346633, 228346675-228346676
77ACTA110.883597883597881321134229567780-229567790, 229567833-229567835, 229567838-229567843, 229567846-229567856, 229567878-229567888, 229567899-229567932, 229568017-229568030, 229568068-229568109
78LYST10.99973698053656311406235866136, 235944233-235944234
79ACTN210.953072625698321262685236849974-236850099
80RYR210.996108427267855814904237205832-237205869, 237821244-237821249, 237821252-237821254, 237942008-237942018
81FH10.98108284409654291533241672046-241672062, 241672071-241672076, 241682933, 241682949-241682951, 241682968-241682969
82NLRP310.9996785599485713111247588091
83NET1100.987158012283642317915454700-5454703, 5454706-5454715, 5454720, 5454723-5454728, 5454752, 5454774
84GATA3100.934082397003758813358097703-8097737, 8097810-8097849, 8097855-8097859, 8100719, 8100728, 8100734-8100736, 8100744, 8100747-8100748
85OPTN100.9936562860438311173413174112-13174122
86PHYH100.9429695181907658101713341968-13341986, 13341994-13342032
87DCLRE1C100.9966329966337207914981847-14981853
88CUBN100.99733259749816291087216882360, 16957111, 17032447-17032454, 17032457-17032473, 17142106-17142107
89PTF1A100.2917933130699169998723481460-23482158
90PDSS1100.9238782051282195124826986641-26986654, 26986664-26986710, 26986726-26986735, 26986742-26986765
91RET100.96621823617339113334543572707-43572779, 43595926-43595940, 43600512-43600513, 43600516-43600517, 43600520, 43600571-43600574, 43600578, 43600595-43600598, 43600601-43600606, 43600608, 43600613-43600616
92ERCC6100.994645247657324448250732782-50732789, 50740809-50740812, 50740819-50740828, 50740833, 50740837
93CHAT100.9247886070316169224750822270, 50822273-50822419, 50822425, 50822455, 50827828, 50830144-50830160, 50872823
94PCDH15100.999320767532694588955587207-55587209, 56138659
95EGR2100.9923130677847711143164573336-64573338, 64573495-64573498, 64573503, 64573786-64573788
96PRF1100.9856115107913724166872358249, 72358252-72358255, 72358435, 72358438-72358442, 72358448-72358458, 72358462-72358463
97PCBD1100.99047619047619331572648288-72648290
98CDH23100.99761336515513241005673375295, 73375371-73375373, 73464765, 73537504-73537505, 73567282-73567287, 73567291-73567294, 73574844-73574850
99PSAP100.994920634920638157573578374-73578381
100VCL100.972687224669693340575757973-75757976, 75757980-75757982, 75757987-75758009, 75758020-75758032, 75758040-75758042, 75758077-75758084, 75758088-75758089, 75758101-75758133, 75854154, 75873968, 75873972, 75873978
101LDB3100.9885531135531125218488441421, 88441424-88441425, 88466338, 88476140, 88476144, 88476153, 88476164-88476177, 88476188-88476191
102GLUD1100.75790101371497406167788836362-88836368, 88854082-88854342, 88854355, 88854369, 88854377-88854387, 88854402-88854526
103ANKRD1100.99895833333333196092679017
104PLCE1100.999276306267195690996005825-96005829
105HPS1100.98955365622032222106100177368-100177375, 100177378-100177384, 100177426-100177432
106CPN1100.9992737835875111377101816833
107PAX2100.9738260200154341299102587332-102587365
108FBXW4100.93301049233253831239103371139, 103454138-103454170, 103454182-103454188, 103454191-103454193, 103454196-103454204, 103454218-103454220, 103454225, 103454228-103454231, 103454248, 103454251-103454257, 103454261, 103454310, 103454318-103454323, 103454357-103454360, 103454384, 103454390
109HPS6100.820446735395194182328103825233, 103825238-103825245, 103825247, 103825267-103825562, 103825636-103825637, 103825682-103825702, 103825765-103825829, 103825839, 103826060, 103826231, 103826242-103826248, 103826252, 103826993-103826999, 103827012, 103827019-103827020, 103827025-103827027
110SUFU100.923024054982821121455104263910-104263973, 104263980-104264008, 104264015-104264031, 104264054, 104264078
111COL17A1100.98865153538051514494105816789-105816838, 105816911
112HABP2100.9952465834818881683115343989-115343996
113EMX2100.57575757575758322759119302779-119303063, 119303087-119303122, 119303181
114BAG3100.895833333333331801728121411188-121411367
115HTRA1100.671517671517674741443124221169-124221632, 124266207-124266215, 124266218
116UROS100.998746867167921798127477540
117TALDO1110.901380670611441001014747482-747578, 763344-763346
118SLC25A22110.9012345679012396972791931-791936, 791941, 791945-791946, 792582-792591, 792599-792616, 792622, 792625-792642, 792645-792651, 792656, 792661-792666, 792671-792682, 792692-792701, 792870-792872, 792876
119PNPLA2110.782178217821783301515819719-819905, 823998-824016, 824025-824034, 824099-824101, 824314, 824330-824352, 824402-824405, 824409-824424, 824561, 824630-824644, 824661-824662, 824666-824674, 824716, 824725-824734, 824762, 824766, 824772-824793, 824797-824799, 824805, 824858
120CTSD110.9120258272800610912391774891, 1775065-1775066, 1775224-1775246, 1775308, 1775317-1775319, 1775329-1775333, 1775338-1775343, 1785022-1785089
121TNNI2110.89617486338798575491861809-1861835, 1862319-1862324, 1862334-1862357
122TNNT3110.9935649935649957771959701-1959704, 1959707
123H19110.911297852474329510712017400-2017404, 2017753, 2017758-2017759, 2017765, 2017826-2017836, 2017841-2017852, 2017872, 2017886, 2017977, 2018016-2018021, 2018035, 2018039-2018047, 2018072-2018110, 2018127, 2018130, 2018134, 2018170, 2018173
124IGF2110.769338959212381647112154252, 2154255, 2161365-2161526
125TH110.923174603174612115752187717-2187722, 2187727, 2187743-2187758, 2187767-2187779, 2187863-2187884, 2187943-2187945, 2187951-2187965, 2187969, 2187974-2187975, 2187977-2187980, 2187988-2187993, 2188122, 2188170-2188179, 2188198-2188200, 2191015-2191020, 2191989-2192000
126KCNQ1110.8463810930576131220312466329-2466571, 2466588-2466632, 2466643-2466657, 2683242-2683248, 2869109-2869110
127CDKN1C110.261829652996857029512905234-2905235, 2905250, 2905256, 2905270, 2905294, 2905298, 2905900-2906456, 2906466-2906526, 2906542-2906588, 2906610-2906639
128SMPD1110.987869198312242318966411935-6411941, 6411950-6411961, 6412742-6412743, 6412993, 6412996
129SBF2110.984144144144148855509809192-9809207, 9838414-9838422, 9868527-9868534, 10315562-10315616
130ABCC8110.9873577749683960474617498176-17498203, 17498212-17498217, 17498274-17498298, 17498323
131USH1C110.93814814814815167270017531098-17531104, 17531114-17531117, 17531123-17531125, 17531130-17531140, 17531149-17531155, 17531164-17531186, 17531194-17531254, 17531264-17531269, 17531285-17531298, 17531306-17531326, 17531336-17531345
132CSRP3110.981196581196581158519207811-19207821
133SLC6A5110.9908103592314122239420622797-20622799, 20622810-20622815, 20622831-20622834, 20622967-20622972, 20622975, 20622982, 20623006
134ANO5110.9959883296863611274222276989, 22276992-22276996, 22277006, 22277008-22277010, 22277014
135FANCF110.995555555555565112522646845-22646849
136PAX6110.999211977935381126931824339
137WT1110.72779922779923423155432450043, 32450048-32450054, 32450059, 32456337-32456342, 32456484-32456891
138PDHX110.998671978751662150634938265, 35016623
139EXT2110.999536393138621215744193288
140ALX4110.9441747572815569123644286598-44286608, 44331150-44331173, 44331188-44331191, 44331203, 44331233, 44331238, 44331242, 44331268-44331271, 44331274-44331275, 44331278-44331283, 44331286-44331290, 44331300-44331301, 44331309, 44331313, 44331391, 44331396-44331399
141SLC35C1110.9820075757575819105645827804-45827816, 45827830-45827834, 45832557
142PEX16110.9375600384245965104145935429-45935430, 45935444-45935446, 45935452-45935455, 45935962, 45935981, 45935985, 45937361, 45937367-45937368, 45937373-45937377, 45939251-45939258, 45939266-45939302
143DDB2110.9742990654205633128447236738, 47236765-47236796
144SLC39A13110.993727598566317111647431751-47431753, 47433930-47433933
145RAPSN110.994350282485887123947460292, 47460320, 47460371, 47460417-47460418, 47463209, 47464251
146SERPING1110.9787092481703332150357365744-57365766, 57365775-57365781, 57381923-57381924
147BEST1110.9874857792946522175861723301, 61723318-61723321, 61725754-61725770
148ROM1110.996212121212124105662380777-62380780
149SLC22A12110.9807460890493432166264366346-64366352, 64367154-64367158, 64367173-64367174, 64367271-64367272, 64367278, 64367286-64367300
150PYGM110.997627520759196252964521058, 64521144, 64521401, 64527128-64527130
151MEN1110.998917748917752184864573146, 64577580
152RNASEH2C110.929292929292933549565487881-65487888, 65488130, 65488162-65488168, 65488178, 65488182-65488193, 65488198-65488200, 65488214, 65488219, 65488225
153EFEMP2110.9969969969974133265639793-65639796
154CST6110.961845065779547-65779553, 65779563, 65779668-65779671, 65779676-65779679, 65780376, 65780407
155SPTBN2110.9947023560574438717366453476, 66454945-66454949, 66455339-66455342, 66457615-66457620, 66457631, 66457726, 66457731-66457732, 66468735, 66472489, 66472537-66472541, 66472552, 66472578, 66472594, 66472602, 66472615-66472616, 66472742, 66472850-66472853
156PC110.9937800395815722353766620009-66620013, 66620053-66620056, 66633669-66633672, 66633676, 66633680, 66633813-66633819
157CABP4110.99154589371981782867225908-67225913, 67225916
158AIP110.987915407854981299367256817, 67257811, 67257815, 67257829, 67257836-67257838, 67258358-67258362
159NDUFV1110.999283154121861139567379927
160TCIRG1110.9759326113116760249367810178, 67810261-67810262, 67810448-67810452, 67810455-67810477, 67811319-67811339, 67811343, 67811363-67811364, 67816550, 67817130, 67817150, 67817158, 67817161
161LRP5110.97153465346535138484868080183-68080273, 68131217, 68131243, 68133144-68133163, 68133169-68133170, 68153805, 68207317, 68207320, 68207333-68207337, 68207347-68207354, 68207364-68207369, 68216535
162CPT1A110.999138673557282232268527720-68527721
163IGHMBP2110.99899396378273298268671475-68671477
164DHCR7110.9845938375350122142871146486-71146487, 71146577, 71146581-71146583, 71146606-71146613, 71146647, 71146660-71146665, 71146675
165LRTOMT110.99200913242009787671819776, 71819784, 71819801-71819805
166MYO7A110.9960890493381526664876858906-76858907, 76883858, 76912527-76912546, 76922281-76922283
167FZD4110.997521685254034161486665845, 86666070, 86666081, 86666086
168MTMR2110.9927536231884114193295657077-95657082, 95657089, 95657102, 95657106-95657111
169TRPC6110.9996423462088712796101454185
170DYNC2H1110.9918115102356110612945102991489-102991493, 102991501-102991503, 102991510-102991512, 102991515-102991523, 102991528-102991531, 103041676-103041687, 103043811-103043818, 103043833-103043835, 103043845, 103052532-103052541, 103062341, 103090653-103090666, 103191848-103191880
171ATM110.99792825209901199171108126981, 108188142, 108204664-108204680
172ALG9110.97385620915033481836111742112-111742121, 111742137-111742138, 111742145, 111742147-111742151, 111742158-111742184, 111742196-111742198
173PTS110.9657534246575315438112097167-112097181
174APOA1110.9639303482587129804116706610-116706611, 116706614-116706617, 116706747, 116706794-116706807, 116706861-116706868
175ROBO3110.97788993030522924161124738899-124738903, 124739419-124739422, 124739430-124739435, 124745097-124745098, 124745899-124745904, 124745915-124745919, 124745935-124745939, 124745971-124745978, 124745998, 124746006-124746007, 124746015, 124746181-124746183, 124746255-124746259, 124746269-124746283, 124746294-124746298, 124746312, 124748635-124748636, 124748643-124748644, 124749712-124749725
176ACAD8110.9991987179487211248134123515
177WNK1120.982794796475031237149862738-862740, 862762, 862796-862827, 862833-862869, 862895-862903, 862923-862924, 862929-862935, 862968-862975, 862979, 862989, 863146-863150, 863263, 863300, 994497, 994797-994810
178CACNA2D4120.99824253075571634141902901-1902903, 1906634, 1906640, 2027542
179CACNA1C120.989330894680697065612224481, 2224484, 2224510, 2788730, 2788736-2788737, 2788741, 2788744, 2791765, 2791768, 2794934-2794940, 2800250-2800256, 2800270-2800314, 2800360
180KCNA1120.99596774193548614885020587, 5020692-5020696
181VWF120.9774934849561719084426058300, 6122706-6122708, 6125338-6125344, 6125717, 6125813-6125822, 6127597-6127603, 6127637-6127661, 6128064-6128079, 6128167-6128173, 6128339-6128345, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166032-6166036, 6166080-6166081, 6166087-6166100, 6166113, 6166207-6166220, 6166225-6166227, 6166230
182TNFRSF1A120.9173976608187111313686438525, 6438571-6438628, 6438639-6438674, 6438684, 6438687-6438689, 6438692, 6438704-6438707, 6438711, 6438980-6438987
183SCNN1A120.99725651577503621876464572-6464575, 6472713, 6472747
184TPI1120.846666666666671157506976731-6976845
185ATN1120.984886649874065435737045599-7045600, 7045603-7045604, 7045607-7045610, 7045892-7045931, 7046595-7046596, 7047146-7047148, 7047151
186AICDA120.9932998324958145978756880-8756883
187ABCC9120.9972043010752713465021991058-21991059, 22063760-22063770
188DNM1L120.9954771596562610221132832393-32832399, 32890854-32890856
189PKP2120.9952267303102612251433049483, 33049567-33049574, 33049602, 33049664-33049665
190KIF21A120.9963898916967518498639726727, 39836729, 39836734, 39836739-39836741, 39836752-39836757, 39836767-39836772
191VDR120.999221183800621128448251382
192COL2A1120.9838709677419472446448393775-48393812, 48398067-48398100
193MLL2120.985915492957752341661449420846-49420853, 49420907-49420909, 49424457-49424462, 49426117-49426118, 49426167-49426186, 49426198-49426217, 49426515, 49426629, 49426730-49426732, 49426737, 49426858, 49426879, 49426902-49426905, 49426912-49426924, 49426930, 49426950, 49427008, 49427019, 49427028, 49427035, 49427038-49427041, 49427045-49427061, 49427071, 49427076-49427081, 49427119, 49427125-49427129, 49427186-49427188, 49427198-49427203, 49427213-49427217, 49427257-49427273, 49427316-49427320, 49427656-49427659, 49427668, 49430933-49430938, 49431298-49431303, 49431311-49431312, 49431541-49431553, 49431870-49431883, 49433320, 49434066-49434068, 49434091, 49434097-49434099, 49434735, 49435196-49435198, 49435201, 49435205-49435206, 49440515-49440520, 49446172-49446178
194DHH120.948782535684361119149483642-49483649, 49483658-49483659, 49483721-49483723, 49483727-49483730, 49483755, 49483761-49483764, 49483769, 49483775, 49483803, 49483845, 49483850-49483864, 49483875-49483877, 49483891, 49483897, 49483901, 49483903-49483908, 49484151, 49484159-49484164, 49488232
195TUBA1A120.89692982456144745649522195-49522241
196ACVRL1120.970238095238145151252307019-52307026, 52308245-52308273, 52308356-52308362, 52312884
197KRT81120.9861660079051421151852680056-52680058, 52680213-52680218, 52684891-52684900, 52685184, 52685190
198KRT86120.9897330595482515146152695764, 52695851-52695857, 52696053-52696059
199KRT6B120.985840707964624169552844380-52844403
200KRT6C120.999410029498531169552867269
201KRT6A120.9876106194690321169552881506, 52885475-52885481, 52885492-52885495, 52885498-52885505, 52886922
202KRT5120.9503666102650988177352908800, 52908839, 52908885-52908924, 52908931-52908969, 52912895, 52912917-52912919, 52912925, 52912932, 52912935
203KRT2120.9968756192053040619, 53040655-53040658, 53045777
204KRT1120.9875968992248124193553069223-53069243, 53070137, 53070159-53070160
205KRT4120.999439775910361178553201146
206AAAS120.9896404631322417164153701403-53701413, 53701437-53701442
207ITGA7120.9970811441914810342656081795, 56086679-56086681, 56088563-56088568
208MYO1A120.999042145593873313257440376-57440378
209KIF5A120.999354630525982309957944165, 57944168
210CYP27B1120.998690242305172152758158985-58158986
211TSFM120.99897750511247197858176625
212GNS120.9843279083785426165965141665-65141669, 65152977-65152984, 65153008-65153013, 65153019-65153025
213LEMD3120.93347953216374182273665563377-65563400, 65563547-65563554, 65563607-65563609, 65563613-65563637, 65563650-65563658, 65563714-65563732, 65563753-65563757, 65563766, 65563771, 65563774, 65563797, 65563815-65563853, 65563869, 65563873, 65563887, 65563890-65563893, 65563916, 65563922, 65563938, 65563952, 65563974-65564008
214CEP290120.9940860215053844744088472941-88472965, 88472986, 88481590, 88481593-88481594, 88512450, 88522774-88522787
215HAL120.9721377912867355197496380903-96380909, 96389496-96389541, 96389634-96389635
216TMPO120.94676258992806111208598909713, 98909717-98909725, 98909733-98909739, 98909750, 98909763-98909773, 98909795-98909805, 98909822-98909869, 98909879-98909880, 98909886-98909896, 98909899, 98909907-98909909, 98909919-98909924
217SLC25A3120.994490358126726108998987872-98987877
218SLC17A8120.9977401129943541770100797880-100797883
219SYCP3120.99859353023911711102127403
220UNG120.94798301486249942109535552-109535600
221MVK120.9991603694374511191110034258
222TRPV4120.99579510703364112616110221432, 110221443-110221447, 110221450, 110221457-110221460
223ATP2A2120.964205816554811123129110719595-110719704, 110719711-110719712
224MYL2120.998003992015971501111348961
225ATXN2120.833840690005076553942112036588-112037238, 112037306-112037308, 112037311
226PTPN11120.99214365881033141782112856916-112856929
227TBX5120.98394348105331251557114793804-114793820, 114803970-114803977
228TBX3120.930555555555561552232115109689, 115109872, 115109881, 115109903-115109906, 115109913-115109921, 115112044-115112061, 115112083-115112102, 115112208-115112211, 115112220-115112228, 115112232, 115112236, 115112250-115112256, 115112274-115112279, 115112284, 115112293, 115112300-115112301, 115112320-115112327, 115112351-115112387, 115112436-115112441, 115112448-115112465
229ACADS120.9911218724778111239121163694-121163699, 121163702-121163706
230HNF1A120.95569620253165841896121416585, 121416588, 121416591-121416624, 121416632, 121416693-121416697, 121434188-121434194, 121434352-121434378, 121437095, 121437374, 121438905-121438906, 121438917-121438920
231HPD120.98984771573604121182122287619-122287630
232EIF2B1120.990196078431379918124116933-124116941
233PUS1120.94626168224299691284132414268-132414277, 132414283-132414288, 132414310, 132414452-132414459, 132414472, 132414478-132414483, 132414485-132414491, 132414494-132414511, 132414619, 132425996-132425999, 132426004-132426009, 132426511
234GJB6130.99745547073791278620797351-20797352
235SACS130.988864628820961531374023914166-23914167, 23949258-23949408
236CENPJ130.999751058003491401725459414
237PDX1130.8661971830985911485228494288, 28494291-28494292, 28494307-28494308, 28494342-28494345, 28494349-28494351, 28494400, 28494411-28494415, 28494539-28494541, 28494556-28494566, 28494589, 28498412-28498415, 28498419-28498433, 28498437, 28498450-28498456, 28498513, 28498608, 28498612-28498620, 28498657-28498659, 28498670-28498677, 28498682-28498687, 28498700-28498708, 28498721, 28498742, 28498749-28498750, 28498782, 28498786-28498791, 28498797, 28498801-28498805
238B3GALTL130.9532398129592570149731774222-31774291
239BRCA2130.99853758408891151025732915298-32915310, 32930720-32930721
240SPG20130.997001499250376200136905632-36905637
241FREM2130.9916929547844479951039261570-39261574, 39261640, 39261682, 39261902-39261938, 39261951-39261967, 39262861-39262864, 39433576-39433589
242TNFSF11130.9979035639413295443148492, 43148549
243SUCLA2130.994252873563228139248542801-48542808
244RB1130.9781126659490561278748878091, 48878111-48878114, 48878116-48878123, 48878132, 48878140-48878185, 48939033
245RNASEH2B130.959531416400433893951484213-51484217, 51484220, 51484231-51484244, 51484247-51484264
246ATP7B130.998180991359718439852518373-52518380
247CLN5130.9787581699346426122477566133, 77566266-77566273, 77566277, 77566288-77566293, 77566300-77566302, 77566390-77566396
248SLITRK1130.997608799617415209184453800-84453801, 84453804, 84455062-84455063
249ZIC2130.520950594121337661599100634319-100634806, 100634812-100634815, 100634821, 100634824-100634833, 100634842-100634847, 100634853-100634854, 100634860-100634863, 100634868-100634869, 100634872, 100634968, 100634997-100635002, 100635026-100635032, 100635148, 100635170, 100637597, 100637600, 100637603, 100637616, 100637620-100637631, 100637645-100637692, 100637699-100637865, 100637909
250PCCA130.99039780521262212187100741432, 100741438-100741439, 100741442-100741454, 100741460, 100741464, 100909912-100909914
251ERCC5130.99716914366596124239103513977-103513979, 103515389-103515392, 103515397-103515399, 103518158, 103518679
252COL4A1130.976047904191621205010110817252-110817265, 110853807, 110853822-110853824, 110853827-110853828, 110864248-110864269, 110895022, 110959291-110959307, 110959315-110959374
253F7130.885393258426971531335113765004-113765120, 113765128-113765162, 113772806
254GRK1130.96808510638298541692114321787-114321827, 114322044-114322050, 114325883, 114325896-114325898, 114426084-114426085
255TEP1140.9977168949771718788420844388-20844390, 20851755-20851756, 20851762-20851767, 20851770, 20851774-20851775, 20851781-20851783, 20852382
256RPGRIP1140.9994819994822386121769184, 21769337
257SLC7A7140.998697916666672153623282124-23282125
258PABPN1140.6188925081433235192123790679-23791029
259MYH6140.998625429553268582023857400, 23858211, 23858221-23858223, 23858227, 23858233-23858234
260MYH7140.996556473829220580823885258-23885260, 23885263-23885274, 23886754, 23887529-23887530, 23887536, 23887582
261NRL140.7380952380952418771424550497-24550543, 24550552-24550562, 24550566-24550571, 24550573, 24550579-24550585, 24550588-24550589, 24550594-24550622, 24550631, 24550633, 24550638, 24550641-24550648, 24550658-24550719, 24550731-24550735, 24550757-24550762
262FOXG1140.65646258503401505147029236486-29236977, 29237275, 29237281, 29237286-29237287, 29237490-29237497, 29237802
263COCH140.9818511796733230165331344266-31344295
264CFL2140.9940119760479350135183744-35183746
265NKX2-1140.59867330016584484120636986578-36986626, 36986634-36986655, 36986669-36986929, 36987027, 36987083-36987088, 36987106-36987108, 36987117-36987121, 36987124-36987126, 36988190-36988213, 36988261-36988262, 36988265-36988266, 36988333-36988340, 36988347, 36988364, 36988374-36988380, 36988383, 36988389-36988391, 36988396-36988407, 36988424, 36988430-36988455, 36989271-36989273, 36989288-36989292, 36989295-36989332
266FANCM140.997722466243714614745605358-45605368, 45605374-45605376
267MGAT2140.994791666666677134450088129, 50088133-50088135, 50088141-50088143
268C14orf104140.85759745425617358251450100459, 50100603-50100605, 50100683, 50100730-50100734, 50100740-50100767, 50100772-50100780, 50100801-50100828, 50100867, 50100873, 50100876-50100883, 50100894-50100915, 50100921-50100924, 50100931, 50100942-50100944, 50100949, 50100954-50100964, 50100969-50100995, 50101006-50101014, 50101023-50101050, 50101080-50101097, 50101102-50101113, 50101136, 50101232-50101275, 50101301-50101307, 50101339-50101344, 50101347-50101348, 50101351, 50101362-50101365, 50101368-50101370, 50101373-50101383, 50101407-50101412, 50101414-50101420, 50101440-50101465, 50101535, 50101538, 50101556-50101567, 50101701, 50101704, 50101707, 50101710, 50101801
269L2HGDH140.997126436781614139250769620-50769623
270PYGL140.998427672955974254451410892, 51410957, 51410961, 51410968
271GCH1140.8100929614873814375355369089, 55369127-55369131, 55369140-55369141, 55369173, 55369213-55369217, 55369233-55369238, 55369259-55369381
272SIX6140.99865047233468174160976222
273SIX1140.96725146198832885561115420-61115422, 61115428-61115446, 61115505, 61115531-61115533, 61115600, 61115670
274SYNE2140.9996622273692372072464483285, 64516355-64516356, 64676742, 64679702, 64685228-64685229
275ZFYVE26140.9939632545931846762068241753-68241762, 68241769-68241773, 68241779-68241784, 68242684-68242696, 68242718, 68244313-68244316, 68244319, 68257296, 68274210-68274213, 68274511
276PSEN1140.999287749287751140473678601
277VSX2140.89963167587477109108674706349, 74706390-74706435, 74706443-74706480, 74706502, 74706603, 74706606-74706615, 74706620-74706631
278EIF2B2140.998106060606062105675471509-75471510
279MLH3140.9970197157267313436275483812, 75483821-75483822, 75483826-75483831, 75515609-75515612
280FLVCR2140.998102466793173158176045387, 76045395, 76045749
281TGFB3140.999192897497981123976427399
282ESRRB140.9718402095612343152776964666-76964676, 76964683-76964704, 76964707-76964716
283POMT2140.975144252108356225377744807-77744813, 77745193, 77786865-77786866, 77786894-77786926, 77786938, 77786941-77786946, 77786960, 77786964-77786966, 77786973, 77787000
284VIPAR140.999325236167341148277894729
285TSHR140.997385620915036229581422051, 81422055-81422057, 81422061-81422062
286GALC140.9640427599611374205888459342, 88459370, 88459380-88459451
287TTC8140.997416020671834154889323618-89323621
288ATXN3140.9907918968692410108692537343-92537346, 92537353-92537358
289VRK1140.999160369437451119197304151
290AMN140.554331864904556071362103395102-103395105, 103395123, 103395147-103395185, 103395194-103395230, 103395297-103395298, 103395458-103395477, 103395493-103395543, 103395562-103395571, 103395579-103395584, 103395590-103395595, 103395807-103395814, 103395817-103395820, 103395992-103395997, 103396026-103396032, 103396283-103396332, 103396365-103396387, 103396403-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396916, 103396923-103396925, 103396927-103396933, 103396940-103396986
291INF2140.878666666666674553750105167922-105167930, 105170258, 105173616-105173620, 105173644-105173649, 105173659-105173705, 105173717, 105173749-105173753, 105173756-105173777, 105173783-105173791, 105173839-105174130, 105174146-105174152, 105174177, 105174185-105174186, 105174248, 105174253-105174254, 105174260, 105174269, 105174286-105174324, 105175996-105175999
292NIPA1150.8121212121212118699023060880-23060887, 23086234-23086411
293UBE3A150.9920091324200921262825616251-25616257, 25616358-25616364, 25616620-25616626
294OCA2150.9960270162892310251728263670-28263672, 28326913, 28326940, 28326943-28326945, 28326974, 28326977
295IVD150.9890710382513714128140707164-40707177
296CHST14150.84438549955791176113140763413-40763514, 40763524-40763533, 40763536, 40763572-40763573, 40763576-40763580, 40763655-40763664, 40763668-40763672, 40763677-40763683, 40763686-40763694, 40763779-40763780, 40763804-40763812, 40763815-40763828
297CDAN1150.88762214983713414368443017730-43017733, 43017763-43017766, 43017772-43017773, 43019912-43019914, 43021432-43021436, 43021481, 43021795-43021796, 43026506, 43028575-43028576, 43028588-43028600, 43028669-43028673, 43028688-43028699, 43028709-43028978, 43029211-43029300
298STRC150.986298798798873532843897545-43897560, 43903364, 43903369, 43906411-43906422, 43908074, 43910222, 43910863-43910903
299STRC150.99664991624791259744002826, 44002831
300STRC150.997948717948724195044007536, 44009607-44009608, 44009684
301SPG11150.9978177850518316733244912487, 44955671-44955680, 44955699, 44955703-44955706
302DUOX2150.97525285130192115464745403595-45403602, 45403615-45403623, 45403644-45403672, 45403696-45403742, 45403764-45403783, 45403987-45403988
303GATM150.9709119496855337127245668799, 45670583-45670589, 45670612-45670640
304FBN1150.999303621169926861648713755-48713760
305CEP152150.999798590130921496549036519
306TPM1150.9953216374269485563336018-63336021
307PPIB150.960061443932412665164455105-64455128, 64455134, 64455144
308CLN6150.911324786324798393668521840-68521922
309NR2E3150.9909420289855110110472103141, 72103859, 72103862, 72103865-72103866, 72103870, 72103930-72103932, 72104192
310HEXA150.998742138364782159072668148, 72668255
311HCN4150.73394241417497961361273614834, 73614863, 73614867, 73614873-73614878, 73614885-73614886, 73614888-73614914, 73614929-73614934, 73614940, 73614971-73614977, 73614997-73615016, 73615020-73615021, 73615025-73615028, 73615086-73615087, 73615118-73615119, 73615140-73615151, 73615226, 73615274-73615278, 73615297, 73615301-73615311, 73615405-73615419, 73615510, 73615533-73615536, 73615545, 73615549, 73615564-73615568, 73615579-73615588, 73615592-73615644, 73615720-73615754, 73615769-73615776, 73615882-73615920, 73615988-73615989, 73616001, 73616031-73616053, 73616061-73616094, 73616104-73616110, 73616123-73616125, 73616152-73616171, 73616174-73616190, 73616209, 73616276-73616284, 73616458, 73617460-73617467, 73622045, 73622048, 73624537-73624547, 73660074-73660611
312FAH150.999206349206351126080445455
313RPS17150.99509803921569240883208849, 83208883
314POLG150.9884408602150543372089876612, 89876797-89876798, 89876801-89876810, 89876827-89876831, 89876833-89876840, 89876849, 89876858-89876863, 89876943-89876952
315MESP2150.84170854271357189119490319726-90319732, 90319757-90319786, 90319809, 90319872, 90319877-90319888, 90319905-90319907, 90319933-90319941, 90319953-90319963, 90319966, 90319969-90320042, 90320045-90320056, 90320068, 90320072, 90320075-90320078, 90320107, 90320116-90320128, 90320132-90320134, 90320146, 90320149, 90320161, 90320177, 90320279
316BLM150.998824635637055425491354490-91354494
317VPS33B150.999460625674221185491565411
318IGF1R150.97417153996101106410499192812-99192904, 99473522-99473523, 99500550-99500554, 99500579-99500583, 99500586
319HBZ160.35664335664336276429203891-204095, 204271-204341
320HBM160.7676056338028299426216073-216088, 216305, 216332-216372, 216378-216415, 216431, 216434, 216452
321HBA2160.75757575757576104429222912-222934, 222947-222954, 222963-222997, 223156-223185, 223220-223227
322GNPTG160.96296296296296349181401967-1401989, 1402000, 1402003-1402008, 1402015-1402018
323CLCN7160.9392059553349914724181497424, 1497434, 1497441-1497442, 1497568-1497569, 1524835-1524975
324IGFALS160.96480331262946819321840607-1840611, 1840617-1840619, 1840627-1840631, 1840840, 1841130-1841131, 1841151-1841152, 1841158-1841159, 1841184-1841185, 1841457, 1841549, 1841552-1841553, 1841774, 1841828-1841830, 1842063-1842069, 1842101-1842102, 1842377-1842403, 1842432, 1843653
325GFER160.626213592233012316182034220-2034440, 2034460-2034468, 2035916
326TSC2160.9983407079646954242103395, 2103398, 2112558-2112561, 2121874, 2121884, 2121887
327PKD1160.841852540272612042129122139888, 2139892, 2140055, 2140062, 2140802, 2140910-2140939, 2140952-2140999, 2141063-2141175, 2141424-2141554, 2141567-2141570, 2141794-2141805, 2141815, 2141824, 2141827-2141832, 2141867-2141868, 2143048, 2147188-2147196, 2147203-2147204, 2147949, 2147968-2147985, 2149962-2149969, 2150027-2150072, 2150245-2150251, 2150470-2150484, 2150515-2150521, 2152143-2152174, 2152513-2152520, 2153290-2153307, 2153373, 2153376, 2153542-2153557, 2153592-2153598, 2153651-2153746, 2153753-2153798, 2154566-2154568, 2154578-2154643, 2155330-2155359, 2155423-2155429, 2155875-2155912, 2156018-2156025, 2156195, 2156248, 2156251, 2156265, 2156494-2156521, 2156541-2156547, 2156806-2156816, 2158253-2158276, 2158349-2158376, 2158524, 2158559-2158561, 2158595-2158624, 2158731-2158775, 2158826-2158832, 2158901-2158906, 2158910-2158911, 2158916, 2159144-2159150, 2159230, 2159233, 2159241-2159243, 2159247, 2159259-2159260, 2159394-2159409, 2159580-2159581, 2159712-2159718, 2159945-2159951, 2160451-2160475, 2160679-2160728, 2160769-2160775, 2161306, 2161317-2161322, 2161325-2161329, 2161611-2161613, 2161617, 2161624, 2161736-2161775, 2162423-2162469, 2162958-2162961, 2163172-2163185, 2163266, 2164208-2164214, 2164451, 2164588-2164594, 2164802-2164819, 2165388-2165398, 2165501-2165507, 2166037-2166043, 2166530-2166553, 2166562-2166595, 2166835-2166845, 2166891-2166922, 2166976-2166982, 2167565, 2167577, 2167580, 2167670-2167673, 2167792-2167798, 2167829-2167857, 2167871-2167877, 2167933-2167934, 2167948-2168000, 2168056-2168075, 2168124-2168199, 2168207-2168246, 2168291-2168293, 2168310-2168345, 2168352-2168414, 2168772, 2169115-2169138, 2185476-2185690
328ABCA3160.990615835777134851152328412, 2334934-2334935, 2334958-2334966, 2334973-2334977, 2334980-2334983, 2335465-2335473, 2349494-2349499, 2369650-2369661
329MEFV160.990196078431372323463304509, 3304514, 3304524-3304531, 3304543, 3304638, 3304646, 3304671-3304674, 3304696-3304700, 3304740
330SLX4160.990917347865585055053632377-3632378, 3632458-3632461, 3632505-3632511, 3632522, 3632525-3632527, 3632558, 3632597-3632601, 3633272-3633278, 3633284, 3633296-3633300, 3639254-3639260, 3639266-3639267, 3647942-3647946
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469NDUFS7190.92990654205607456421388535-1388579
470GAMT190.840740740740741298101401295-1401299, 1401304-1401307, 1401310-1401320, 1401339-1401358, 1401387-1401475
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472MAP2K2190.923524522028269212034123781-4123872
473TUBB4190.973782771535583513356495432, 6495572, 6495627-6495631, 6495633, 6495641, 6495647-6495649, 6495654-6495658, 6495661-6495662, 6495666-6495670, 6502192-6502198, 6502201-6502204
474C3190.987379807692316349926707087-6707091, 6707104-6707121, 6707145-6707151, 6707222, 6707234-6707242, 6707255, 6707258, 6707261, 6709715, 6709723-6709739, 6709751-6709752
475INSR190.980236201494348241497184603, 7293822-7293902
476MCOLN1190.990820424555361617437587653-7587654, 7595265-7595270, 7598504-7598511
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481DNM2190.93685419058553165261310828919-10829079, 10939792-10939794, 10940880
482LDLR190.9767711962833960258311200225-11200241, 11200249-11200291
483PRKCSH190.9829867674858227158711546950-11546955, 11558341-11558349, 11558370, 11558376-11558382, 11558385, 11558388, 11559968-11559969
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485GCDH190.997722095671983131713002147, 13002151, 13007101
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488CYP4F22190.999373433583961159615636339
489JAK3190.93866666666667207337517940917-17940971, 17940977-17940991, 17941314-17941316, 17941321, 17941324-17941326, 17941332-17941335, 17941352-17941358, 17941363-17941399, 17942160, 17942163, 17942203-17942209, 17945494-17945499, 17945501-17945506, 17953152, 17953156, 17953203, 17953206, 17953253-17953255, 17953279-17953283, 17953336, 17953852-17953899
490SLC5A5190.9622153209109773193217983369, 17984948-17985003, 17994519-17994533, 18004667
491IL12RB1190.999497234791351198918170758
492COMP190.81750219876869415227418896483-18896511, 18896541-18896543, 18896546-18896547, 18896554-18896558, 18896561-18896565, 18896775-18896794, 18898411-18898435, 18899041, 18899065-18899072, 18899115-18899128, 18899226-18899233, 18899259-18899262, 18899276-18899279, 18899303-18899323, 18899405-18899406, 18899441, 18899445, 18899457-18899460, 18899470-18899487, 18899497-18899513, 18899516, 18900017-18900066, 18900074-18900089, 18900754-18900762, 18900772-18900774, 18900786-18900790, 18900793-18900824, 18900828-18900834, 18900853-18900892, 18900903-18900923, 18901660-18901698
493CEBPA190.25069637883008807107733792328, 33792345, 33792507-33792509, 33792519-33793320
494SCN1B190.938042131350685080735521725-35521764, 35524760-35524761, 35524764-35524771
495MAG190.9851143009037728188135790572-35790576, 35790619, 35790634-35790638, 35790641, 35790666-35790670, 35790676, 35790748-35790753, 35791128-35791130, 35791137
496COX6B1190.96551724137931926136149528-36149536
497PRODH2190.996896337678465161136303320, 36303324-36303327
498NPHS1190.980139559849774372636336310-36336313, 36336326-36336327, 36336331, 36336341-36336343, 36336594, 36336598, 36336607-36336614, 36336620-36336621, 36336637, 36336642-36336643, 36336649-36336650, 36336659-36336663, 36336910-36336928, 36336931, 36337063-36337070, 36339571, 36339575-36339581, 36339592, 36339603-36339607
499SDHAF1190.816091954022996434836486185-36486214, 36486229-36486234, 36486237, 36486262, 36486348-36486351, 36486359, 36486402-36486408, 36486432-36486436, 36486443-36486451
500WDR62190.9975940507436611457236545998, 36546016-36546025
501RYR1190.959052722100956191511738931406-38931410, 38931459-38931461, 38931468, 38931471, 38943486-38943488, 38943646, 38943652, 38954489, 38976368-38976373, 38976657-38976676, 38976698-38976716, 38976776, 38976789, 38987501-38987502, 38987508-38987510, 38987515-38987517, 38987524-38987533, 38989748-38989751, 38990346-38990347, 38990438, 38990452-38990453, 38990649, 38993169-38993173, 38993179-38993185, 38993197, 38998415-38998423, 38998428, 38998436, 39008205, 39008210-39008212, 39008216-39008218, 39008229, 39008235-39008238, 39008256, 39010001, 39013679-39013681, 39013698, 39037100, 39037107-39037128, 39055632-39055636, 39055735-39055742, 39055749-39055750, 39055759-39056178, 39056211, 39056213-39056220, 39056227-39056230, 39056290, 39056299-39056300, 39056308-39056311, 39056391-39056394, 39062697-39062698, 39068687, 39075651
502ACTN4190.9729532163742774273639138413, 39138416, 39138421-39138425, 39138435-39138437, 39138482, 39138501-39138508, 39138511-39138539, 39138543, 39214351, 39214620-39214621, 39214630-39214632, 39214635, 39214646-39214650, 39214707, 39214797-39214799, 39214858-39214863, 39216471, 39216476, 39217612
503DLL3190.87129779213786239185739989846-39989850, 39989996-39990004, 39993503-39993529, 39993541-39993547, 39993552-39993587, 39993603, 39993611-39993617, 39993641-39993642, 39993649-39993651, 39993654-39993658, 39993660, 39993666-39993667, 39997720, 39997791, 39997800-39997801, 39997813-39997817, 39997822, 39997826, 39997836-39997922, 39997942-39997944, 39997947-39997948, 39997952, 39997998-39998014, 39998017-39998018, 39998025-39998026, 39998072-39998073, 39998088-39998089, 39998119, 39998172-39998175
504PRX190.95918832649339179438640900175-40900206, 40900523-40900539, 40901323-40901328, 40903081, 40903408, 40903411, 40903694-40903700, 40909613-40909614, 40909625-40909634, 40909640-40909641, 40909644-40909647, 40909656, 40909661-40909664, 40909679-40909769
505TGFB1190.9241261722080189117341837046, 41837049-41837050, 41837054, 41837061, 41837065-41837069, 41837072, 41838165-41838166, 41838170, 41838173, 41848090-41848096, 41858615, 41858631-41858632, 41858653, 41858656, 41858662, 41858692-41858695, 41858716-41858717, 41858747-41858752, 41858761-41858769, 41858873-41858876, 41858885-41858903, 41858910, 41858917, 41858920-41858921, 41858925-41858933, 41858941-41858944
506BCKDHA190.995515695067266133841903788, 41903791, 41903800-41903802, 41916851
507ATP1A3190.9336595976074244367842470944, 42470947, 42470964-42471004, 42471013-42471053, 42471079-42471110, 42471230-42471233, 42471323-42471378, 42471387, 42479813, 42479830-42479835, 42479839, 42480568-42480595, 42480599-42480600, 42480616-42480617, 42480623, 42480626, 42480653-42480673, 42480705-42480708
508ETHE1190.98431372549021276544012161-44012167, 44031270-44031273, 44031280
509BCAM190.92315845257022145188745312384-45312448, 45316570-45316571, 45323964, 45323968, 45324001-45324047, 45324057-45324079, 45324173-45324178
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511BLOC1S3190.5977011494252924560945682576-45682578, 45682583, 45682594-45682608, 45682611-45682615, 45682691, 45682778, 45682784-45682787, 45682795, 45682804-45682805, 45682811, 45682814-45682819, 45682828-45682991, 45683000-45683003, 45683014-45683018, 45683030-45683035, 45683044, 45683055, 45683058-45683066, 45683078-45683082, 45683087-45683096
512ERCC2190.9890494962768325228345867005, 45867014, 45867051, 45867057-45867058, 45867106, 45867149-45867150, 45867283-45867288, 45873394, 45873399-45873404, 45873407, 45873429, 45873489-45873490
513OPA3190.961325966850832154346032395-46032408, 46032419-46032425
514SIX5190.74414414414414568222046269104-46269110, 46269312-46269313, 46270019, 46270147, 46270153, 46270159, 46270162, 46271339-46271342, 46271396-46271399, 46271455-46271462, 46271545-46271557, 46271563-46271642, 46271653-46271721, 46271727-46272102
515DMPK190.91587301587302159189046273769, 46273782, 46273800, 46273828, 46274246-46274266, 46274270-46274271, 46274275, 46274282-46274286, 46281860-46281862, 46285460, 46285479, 46285490-46285610
516FKRP190.68951612903226462148847258710-47258713, 47258724-47258728, 47258737-47258738, 47258811, 47258814, 47258823, 47258838, 47258842, 47259010-47259028, 47259038-47259062, 47259069-47259116, 47259128-47259137, 47259149, 47259152-47259157, 47259160-47259180, 47259192-47259193, 47259198, 47259202-47259209, 47259219-47259221, 47259234, 47259261, 47259270-47259271, 47259276-47259302, 47259315-47259317, 47259321-47259323, 47259341-47259377, 47259384, 47259395-47259464, 47259477-47259491, 47259497-47259513, 47259520-47259563, 47259574-47259578, 47259588, 47259593-47259594, 47259613-47259629, 47259639, 47259643-47259645, 47259653-47259660, 47259666-47259669, 47259674-47259679, 47259683, 47259719, 47259728, 47259738-47259739, 47259754-47259756, 47259834, 47260046-47260057, 47260132, 47260143-47260154
517CRX190.967777777777782990048342627-48342649, 48342658-48342663
518DBP190.6063394683026638597849138837-49139155, 49139181, 49139211-49139235, 49140154-49140161, 49140188-49140219
519FTL190.98674242424242752849469566-49469572
520GYS1190.997741644083115221449472669, 49473870-49473873
521MED25190.9621212121212185224450321620-50321622, 50321636, 50333166-50333171, 50333768-50333771, 50333775-50333777, 50333781, 50333794-50333796, 50333802-50333808, 50334095-50334099, 50334102-50334111, 50334126-50334128, 50334134-50334140, 50335405, 50335408-50335414, 50338428-50338429, 50339521-50339525, 50339539-50339555
522PNKP190.9578544061302766156650364865-50364866, 50364876-50364882, 50364884, 50365103, 50365119, 50365346-50365347, 50365361-50365362, 50365628-50365634, 50365651, 50365828-50365832, 50365838, 50365842-50365854, 50365865, 50365947-50365968
523MYH14190.96236295205367230611150713649-50713680, 50713710, 50713713, 50713718-50713722, 50713727-50713729, 50714019, 50747535, 50753772, 50753887, 50764829-50764877, 50766584-50766585, 50770178-50770199, 50770210-50770262, 50780104-50780106, 50780111-50780144, 50780147-50780148, 50780155-50780156, 50789925-50789927, 50813003-50813016
524KCNC3190.514072119613021105227450823503-50823606, 50823935-50823941, 50824012-50824016, 50826343-50826430, 50826441-50826500, 50826546, 50826554, 50826563-50826566, 50831470-50831751, 50831761-50832066, 50832081-50832088, 50832091, 50832102-50832339
525KLK4190.986928104575161076551412590-51412598, 51412666
526ETFB190.99711815561963104151856413, 51857449, 51857576
527NLRP12190.9943502824858818318654313623-54313624, 54313658-54313668, 54314102, 54314105, 54314387-54314389
528PRKCG190.91547277936963177209454385749-54385803, 54385820, 54385848, 54385851-54385855, 54385859-54385862, 54385865-54385868, 54385873-54385874, 54385890-54385918, 54392919-54392923, 54392929, 54392947-54392955, 54392967, 54392994-54392996, 54393145-54393148, 54393151, 54393158-54393168, 54393177-54393180, 54393188, 54393193, 54393198-54393204, 54393215-54393227, 54393234, 54393237-54393242, 54393249, 54401315-54401319, 54401819, 54401822
529PRPF31190.999333333333331150054631683
530TSEN34190.8510182207931413993354695241-54695284, 54695316-54695410
531NLRP7190.9871547848426540311455445042-55445066, 55450947-55450954, 55450964-55450967, 55450976-55450978
532TNNT1190.921419518377696278955652273, 55652302, 55657802-55657834, 55658049-55658075
533TNNI3190.96880131362891960955667583, 55667586-55667593, 55667603, 55667617-55667622, 55667691-55667693
534TPO20.9354032833690218128021480858, 1480863, 1480880-1480881, 1480904-1480909, 1480922, 1480933-1481000, 1481011-1481041, 1481155, 1481164-1481171, 1481174, 1481194-1481197, 1481213-1481218, 1481225, 1481231-1481232, 1481256-1481294, 1481315-1481321, 1481375, 1488538
535RPS720.8974358974359605853623200-3623217, 3623224-3623265
536KLF1120.9727095516569242153910183844-10183885
537LPIN120.997381219603447267311911631, 11911803-11911804, 11922538, 11928573, 11955322, 11955331
538MYCN20.75627240143369340139516082349, 16082390-16082402, 16082407, 16082420-16082425, 16082449-16082456, 16082461-16082462, 16082553-16082595, 16082641-16082846, 16082872-16082924, 16082931-16082937
539MATN320.87132101300479188146120212205-20212392
540APOB20.99401110137306821369221266736-21266817
541POMC20.8159203980099514880425384122-25384165, 25384172-25384187, 25384343, 25384358, 25384367, 25384376, 25384403-25384415, 25384425-25384495
542OTOF20.96162829496163230599426682960-26682962, 26684767-26684774, 26690265, 26696968-26696970, 26697383, 26697386-26697387, 26697400, 26697412-26697417, 26697420-26697422, 26699759-26699911, 26700053, 26700056-26700061, 26700103-26700109, 26700115-26700139, 26702449-26702452, 26702458-26702461, 26712607-26712608
543EIF2B420.9791666666666734163227592832-27592865
544C2orf7120.989656064132440386729293659-29293691, 29293910, 29294045-29294047, 29294050, 29294053, 29294321
545ALK20.9882788402220957486329451753, 29451778, 30143315, 30143410-30143451, 30143489-30143495, 30143499, 30143504-30143507
546XDH20.999750124937531400231604518
547SRD5A220.967191601049872576231805706, 31805923-31805929, 31805935-31805940, 31805951-31805961
548SPAST20.80226904376013366185132288904-32288942, 32288963, 32288990-32289315
549CYP1B120.86580882352941219163238301934-38301939, 38301943, 38301950-38301956, 38301961-38301963, 38301965-38301973, 38301980-38301998, 38302014-38302026, 38302035-38302047, 38302051-38302058, 38302086-38302110, 38302119-38302155, 38302164-38302168, 38302176-38302184, 38302188-38302217, 38302224-38302233, 38302240, 38302248, 38302251-38302252, 38302258, 38302378, 38302386-38302389, 38302415-38302421, 38302470-38302476
550SOS120.999750124937531400239347556
551ABCG520.999488752556241195644058985
552LRPPRC20.9976105137395510418544223010, 44223013, 44223047-44223048, 44223057-44223062
553SIX320.8258258258258317499945169297, 45169333-45169347, 45169357-45169374, 45169386-45169452, 45169456-45169459, 45169527, 45169535-45169536, 45169571-45169576, 45169579-45169584, 45169631, 45169634, 45169642-45169657, 45169784, 45169792, 45171739, 45171752-45171754, 45171763-45171765, 45171771-45171777, 45171786-45171795, 45171801-45171805, 45171825, 45171836, 45171840-45171842
554EPCAM20.966137566137573294547596645, 47596648-47596650, 47596656-47596671, 47596679, 47596681, 47596686-47596690, 47596700-47596701, 47596705, 47596709, 47601089
555MSH220.998573975044564280547630476, 47635540, 47702408-47702409
556MSH620.94072985549841242408348010373-48010614
557LHCGR20.9733333333333356210048982675-48982679, 48982690-48982692, 48982695, 48982699, 48982733-48982777, 48982789
558NRXN120.9794350282485991442550149312, 50170902-50170908, 50765570-50765572, 51254766-51254768, 51254840-51254846, 51254913-51254919, 51254941-51254948, 51255060-51255063, 51255066, 51255095-51255096, 51255099, 51255114-51255117, 51255262, 51255266-51255272, 51255317, 51255320, 51255323, 51255329-51255341, 51255355-51255356, 51255385-51255401
559EFEMP120.9831309041835425148256094274, 56144947, 56144951-56144962, 56144965-56144975
560FANCL20.9902482269503511112858392974-58392975, 58392982-58392985, 58392997-58393001
561ATP6V1B120.998054474708173154271163086, 71163132-71163133
562DYSF20.9948113207547233636071693974, 71693977-71693986, 71694023-71694038, 71753427, 71753430-71753431, 71753445-71753447
563SPR20.6463104325699727878673114562-73114839
564ALMS120.990882917466411141250473612997-73613074, 73613087-73613097, 73613100, 73613112, 73613116, 73613245, 73613248, 73613295, 73613299, 73786119-73786128, 73827996-73828002, 73828342
565SLC4A520.9935559461042822341474466660-74466661, 74480145-74480155, 74513007-74513011, 74513016-74513019
566DCTN120.9966119364086513383774590190, 74590193, 74590481, 74593676, 74593679, 74598106-74598107, 74598122-74598127
567MOGS20.9745425616547364251474689008-74689009, 74690127, 74692113-74692116, 74692120-74692142, 74692144, 74692146, 74692151-74692158, 74692168, 74692171, 74692270, 74692282-74692285, 74692295-74692298, 74692344, 74692347-74692349, 74692352-74692360
568HTRA220.88453159041394159137774757134-74757146, 74757165-74757210, 74757258, 74757261, 74757266, 74757350-74757356, 74757382-74757425, 74757436-74757468, 74757513-74757517, 74757523, 74757526-74757532
569SUCLG120.995196926032665104184686318-84686321, 84686329
570GGCX20.9855072463768133227785781414-85781423, 85788512-85788514, 85788519-85788536, 85788545-85788546
571SFTPB20.986910994764415114685889202, 85895260-85895266, 85895270-85895276
572REEP120.947194719471953260686564602-86564633
573EIF2AK320.95344673231871156335188876162-88876165, 88926488-88926492, 88926502-88926503, 88926527-88926528, 88926531, 88926553, 88926560-88926564, 88926604, 88926609-88926610, 88926618-88926671, 88926674, 88926688-88926689, 88926692-88926700, 88926706-88926742, 88926749-88926771, 88926777-88926783
574TMEM12720.910739191073926471796930911, 96930917, 96930968-96930971, 96930974, 96930995-96930999, 96931005-96931009, 96931023-96931027, 96931078-96931119
575SNRNP20020.998596162845119641196955086-96955094
576ZAP7020.9720430107526952186098340750-98340753, 98340758-98340761, 98340767-98340769, 98340773-98340775, 98340799, 98340808-98340842, 98340854, 98340886
577RANBP220.975090439276492419675109336079-109336085, 109347317-109347341, 109357110-109357116, 109365376, 109367751-109367757, 109368104-109368111, 109371399, 109371656-109371662, 109374869-109374872, 109378557, 109382787-109382793, 109382914-109382943, 109383268-109383274, 109383315-109383321, 109383761-109383798, 109383885-109383891, 109384146-109384170, 109384284-109384320, 109384469, 109384628-109384634, 109399230-109399236
578MERTK20.97966666666667613000112656313-112656373
579PAX820.9977827050997831353113994285-113994287
580GLI220.876496534341525884761121555024, 121555044, 121712935, 121726320, 121726323, 121728019, 121728028, 121728037, 121728153, 121729632-121729633, 121729636-121729638, 121742257, 121745817, 121745820-121745832, 121745851-121745852, 121745903, 121745906-121745907, 121745910-121745911, 121745922-121745925, 121746030-121746034, 121746047-121746560, 121746661, 121746696-121746702, 121746810-121746815, 121746818, 121746823-121746830, 121747619, 121747622-121747626
581BIN120.98989898989899181782127808409, 127808413-127808416, 127808419-127808420, 127808779, 127811569-127811572, 127816613-127816617, 127816630
582PROC20.877344877344881701386128178932, 128178945, 128180493-128180517, 128180610-128180747, 128180884, 128180888, 128180944-128180946
583CFC120.6860119047619211672131279068-131279080, 131279672, 131280363-131280477, 131280762-131280765, 131280774-131280781, 131280789, 131280809-131280846, 131285303-131285332, 131285378
584LCT20.9991355463347255784136575543, 136575555-136575558
585MCM620.9971613949716172466136633897, 136633900-136633905
586ZEB220.97997256515775733645145274845-145274917
587NEB20.999198958646241619974152417752, 152417806, 152432773-152432782, 152432842, 152467346-152467348
588CACNB420.98784388995521191563152955467-152955468, 152955471, 152955477-152955480, 152955498, 152955506-152955509, 152955515, 152955520-152955525
589ACVR120.9993464052287611530158617418
590SCN2A20.99069458291791566018166237623-166237671, 166245227-166245233
591SCN1A20.9988327497081975997166848838-166848844
592ITGA620.944444444444441823276173292517-173292698
593CHN120.9956521739130461380175779842, 175869636-175869640
594HOXD1320.680232558139533301032176957619-176957858, 176957871-176957873, 176957882-176957884, 176957899, 176957918-176957988, 176957994-176958003, 176958131, 176958155
595AGPS20.96105209914011771977178257518-178257534, 178257554-178257570, 178257580-178257621, 178257642
596PRKRA20.9745222929936324942179315693-179315710, 179315714, 179315717-179315718, 179315726, 179315756-179315757
597TTN20.9995511132391745100248179392333-179392338, 179392350, 179392358, 179419427-179419430, 179446849-179446854, 179447811-179447814, 179447817, 179466410-179466413, 179598578-179598595
598CERKL20.9949968730456581599182521610-182521611, 182521614, 182521619-182521623
599COL3A120.9959100204499184401189860465-189860467, 189871663-189871676, 189872614
600COL5A220.9997777777777814500189910583
601SLC40A120.998834498834521716190445177-190445178
602STAT120.994229915668132253191859826-191859827, 191859830, 191859879-191859880, 191859897-191859898, 191859904-191859909
603ALS220.9961801367109194974202568885-202568897, 202622410, 202622431-202622433, 202626389-202626390
604NDUFS120.98855311355311252184206997805-206997829
605CPS120.9991117033089144503211455567-211455570
606ABCA1220.9992295839753567788215797408-215797412, 215797421
607SMARCAL120.9993019197207722865217297467-217297468
608PNKD20.98445595854922181158219204556-219204562, 219204568-219204571, 219204595-219204601
609WNT10A20.860446570972891751254219745719-219745721, 219745727, 219745731, 219745750-219745758, 219745767, 219745774-219745777, 219745791-219745796, 219745807-219745822, 219757588-219757589, 219757595-219757602, 219757605, 219757608-219757609, 219757612-219757620, 219757646-219757684, 219757691-219757744, 219757770-219757775, 219757814-219757817, 219757849-219757852, 219757858, 219757901-219757904
610DES20.853503184713382071413220283185-220283197, 220283208-220283209, 220283233-220283241, 220283244, 220283246, 220283259-220283285, 220283317-220283374, 220283387, 220283398, 220283405, 220283413-220283419, 220283423-220283425, 220283434, 220283436-220283464, 220283618, 220283624-220283627, 220283681-220283687, 220283697-220283737
611OBSL120.832015463011779565691220416257, 220416263-220416268, 220416280-220416282, 220416285, 220416291-220416292, 220416311-220416316, 220416327-220416330, 220416387-220416390, 220416407, 220416410, 220416413, 220416441, 220416445, 220416458, 220416461-220416481, 220416486-220416487, 220416495-220416496, 220416861-220416867, 220416904-220416910, 220417272-220417273, 220417278, 220417282-220417284, 220417293-220417302, 220417307-220417340, 220417346-220417419, 220417593, 220417601, 220417616-220417663, 220422250-220422259, 220435000, 220435056, 220435102, 220435236-220435278, 220435290, 220435302-220435954
612PAX320.9993412384716711518223161791
613COL4A320.99700777977259155013228029448, 228029455, 228029485-228029495, 228163419, 228163457
614SLC19A320.9993293091884611491228563977
615CHRND20.99871299871321554233390937, 233390940
616CHRNG20.99163449163449131554233404471, 233404475, 233405327, 233405331, 233409240-233409246, 233409591-233409592
617UGT1A120.99126092384519141602234668934-234668939, 234668950-234668954, 234668957-234668959
618COL6A320.99580448919656409534238244861-238244889, 238283085-238283092, 238283430, 238305378, 238305381
619AGXT20.99067005937235111179241808685, 241813418, 241816982-241816990
620D2HGDH20.95721583652618671566242674640-242674641, 242674644-242674651, 242674655, 242674657, 242674717, 242674722-242674725, 242674748, 242695424, 242707157, 242707161, 242707163-242707166, 242707177-242707182, 242707191-242707196, 242707251, 242707281-242707283, 242707319, 242707325-242707330, 242707355-242707361, 242707371-242707382
621C20orf54200.9992907801418411410744371
622AVP200.242424242424243754953063276-3063448, 3063623-3063824
623PANK2200.7548161120840642017133869789-3869821, 3869836-3869840, 3869845, 3869869-3869875, 3869895-3869902, 3869913, 3869915-3869925, 3869928, 3869936-3870021, 3870024-3870035, 3870062, 3870080-3870142, 3870145, 3870153-3870158, 3870161, 3870176, 3870194-3870375
624JAG1200.9778506972928681365710654098-10654178
625C20orf7200.995183044315995103813782226, 13782229-13782232
626THBD200.79108796296296361172823029055, 23029123-23029145, 23029196, 23029279-23029298, 23029315, 23029318-23029320, 23029333, 23029336-23029341, 23029436, 23029452-23029471, 23029507-23029516, 23029522-23029523, 23029526-23029566, 23029574-23029581, 23029593-23029594, 23029605-23029611, 23029647-23029684, 23029688-23029689, 23029692-23029694, 23029697, 23029707-23029712, 23029725, 23029737-23029749, 23029752-23029783, 23029824-23029872, 23029880-23029897, 23030013-23030022, 23030033-23030048, 23030062-23030086
627SNTA1200.83333333333333253151832031144-32031147, 32031160, 32031163, 32031166, 32031170-32031187, 32031199-32031426
628GSS200.9887719298245616142533539570-33539577, 33539588-33539594, 33539599
629GDF5200.9913678618857913150634025113-34025120, 34025123, 34025127-34025130
630SAMHD1200.9936204146730512188135579865-35579868, 35579879-35579882, 35579953-35579956
631ADA200.9890109890109912109243257738-43257740, 43280216-43280223, 43280227
632CTSA200.9853039412157622149744520235-44520254, 44520264, 44520346
633SLC2A10200.997539975399754162645338376-45338379
634SALL4200.998102466793176316250418825, 50418838, 50418841-50418844
635VAPB200.92076502732245873256964516-56964573
636GNAS200.960704607046072973857415320-57415327, 57415337-57415347, 57415356-57415358, 57415672, 57415685, 57415693-57415695, 57415801-57415802
637GNAS200.89531149646757326311457429091-57429112, 57429447, 57429616, 57429638-57429696, 57429718-57429763, 57429777-57429795, 57429814-57429858, 57429944-57429946, 57429955, 57429961-57429963, 57429967-57429975, 57429978, 57429988, 57429991-57429994, 57429998-57430002, 57430041-57430094, 57430103-57430144, 57430165, 57430295-57430302, 57430315
638COL9A3200.89683698296837212205561448417-61448494, 61448930-61448987, 61456337-61456373, 61461750, 61461909-61461922, 61461931-61461940, 61468526-61468538, 61468556
639CHRNA4200.9501061571125394188461981106, 61981155-61981157, 61981160-61981163, 61981176-61981188, 61981237-61981238, 61981245-61981254, 61981260, 61981263-61981268, 61981274-61981277, 61981425, 61981446-61981448, 61981451-61981452, 61981455, 61981631, 61981914-61981916, 61981928, 61992443-61992446, 61992450-61992451, 61992455-61992462, 61992478-61992480, 61992483-61992487, 61992491-61992496, 61992503, 61992509-61992517
640KCNQ2200.87819778541428319261962038037, 62038265-62038294, 62038498, 62038582-62038584, 62103521-62103743, 62103756-62103816
641SOX18200.13593073593074998115562679519-62679530, 62679541, 62679545, 62679557-62679560, 62679608-62679617, 62679631, 62679634-62679641, 62679648, 62679665-62679671, 62679721-62680315, 62680512-62680869
642APP210.9753566796368457231327542882-27542938
643BACH1210.999547715965631221130715021
644SOD1210.956989247311832046533032094, 33032101-33032103, 33032112-33032116, 33032122-33032125, 33032135-33032140, 33032154
645IFNGR2210.9280078895463573101434775850-34775922
646RCAN1210.6666666666666725375935895900, 35987059-35987310
647RUNX1210.91753291753292119144336164432-36164444, 36164446-36164459, 36164463-36164464, 36164510-36164517, 36164522-36164531, 36164557, 36164594-36164597, 36164603, 36164693-36164700, 36259265-36259267, 36259284, 36259297-36259305, 36259318-36259321, 36259323-36259325, 36259328, 36259331-36259340, 36259348-36259351, 36259371-36259393
648HLCS210.998165978908764218138309290-38309293
649TMPRSS3210.99780219780223136543804085, 43815525-43815526
650CBS210.99939613526571165644483156
651CSTB210.777777777777786629745196085-45196150
652AIRE210.87423687423687206163845705890-45706021, 45706498, 45706503, 45706967, 45706980-45706984, 45706987, 45706999, 45707006-45707009, 45709905, 45712889-45712893, 45712897, 45712904-45712905, 45712911-45712917, 45712999, 45713005-45713013, 45713018, 45713021-45713022, 45713040-45713046, 45713776-45713793, 45714288, 45714291-45714294, 45716274
653ITGB2210.94848484848485119231046308608-46308609, 46308613, 46308625-46308649, 46308661-46308714, 46308736-46308740, 46308745, 46308749, 46308756-46308762, 46308771, 46308774, 46308780-46308781, 46308784, 46308792-46308797, 46308803, 46308810, 46309201-46309210
654COL18A1210.94662867996201281526546875464-46875466, 46875476-46875481, 46875487, 46875490-46875491, 46875504-46875507, 46875684, 46876212-46876214, 46876556-46876564, 46876566-46876575, 46876589-46876591, 46876645-46876652, 46876696, 46888174, 46888186, 46888603-46888605, 46888638, 46896294, 46900716, 46906797, 46906801, 46906807, 46906812-46906813, 46906822-46906824, 46906831, 46906838-46906841, 46906868, 46911188, 46911191-46911193, 46911227-46911228, 46924414-46924434, 46925098-46925108, 46925321, 46929397-46929400, 46929460-46929461, 46929463, 46929467, 46930020-46930036, 46930052-46930095, 46930111-46930175, 46931025-46931048, 46931124-46931125, 46932102-46932110
655COL6A1210.95238095238095147308747401765-47401817, 47401841-47401847, 47407532-47407537, 47407543, 47407548, 47407558, 47407560-47407561, 47410172-47410193, 47410307-47410308, 47418860, 47419602-47419606, 47421251-47421253, 47422203, 47422206-47422208, 47422302, 47423323-47423354, 47423500-47423504, 47423507
656COL6A2210.95718954248366131306047531448, 47531453, 47531462, 47532002, 47532009, 47532044-47532048, 47532054-47532059, 47532165-47532171, 47532174-47532175, 47532178-47532180, 47539724, 47545522, 47545525, 47545768, 47545781-47545782, 47545819-47545823, 47545826, 47545831-47545838, 47545973, 47551919, 47551994, 47552028-47552055, 47552212, 47552216-47552217, 47552302, 47552342-47552343, 47552368-47552413
657COL6A2210.839181286549715534247552212, 47552216-47552217, 47552302, 47552342-47552343, 47552368-47552413, 47552477-47552478, 47552481
658FTCD210.9575645756457669162647565339-47565340, 47565381, 47565451-47565457, 47565732-47565776, 47565785-47565786, 47565799-47565805, 47570137, 47571634-47571636, 47574203
659PCNT210.981420437518731861001147744143-47744196, 47783691, 47818012, 47818015-47818016, 47818019-47818022, 47822346, 47822354, 47831299-47831301, 47831304, 47831384, 47831387, 47831401-47831402, 47831413-47831419, 47831423-47831425, 47831450, 47831454-47831455, 47831458, 47831465, 47831469, 47831474, 47831500-47831503, 47831733-47831777, 47832885-47832906, 47836696, 47836702, 47836711, 47836714, 47851818-47851820, 47851825, 47851831-47851843, 47856008, 47858096-47858099
660PEX26220.965141612200443291818561183-18561206, 18561217-18561224
661PRODH220.83194675540765303180318900746-18900750, 18900760-18900761, 18908875, 18908898-18908926, 18923535-18923800
662GP1BB220.1417069243156253362119711379, 19711386, 19711400-19711930
663TBX1220.323252688172041007148819747167, 19747178, 19747185-19747186, 19747194-19747195, 19748428-19748803, 19753288-19753289, 19753293, 19753297, 19753302, 19753309-19753348, 19753425-19753525, 19753912-19754390
664SMARCB1220.9196891191709893115824129357-24129449
665UPB1220.99913419913421115524919626
666CHEK2220.94264622373651101176129083891-29083916, 29083948-29083965, 29085135-29085171, 29091785-29091796, 29091837-29091844
667NF2220.999440715883671178830000005
668TCN2220.9789719626168227128431003319-31003324, 31003331-31003351
669TIMP3220.984276729559751063633198025-33198029, 33198052-33198055, 33198097
670MYH9220.998640149583558588336681955, 36688096, 36688099, 36688264-36688267, 36697704
671TRIOBP220.97886728655959150709838119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119882-38119884, 38119894, 38119902, 38120041, 38120297-38120346, 38120426-38120457, 38122075-38122076, 38122105-38122113, 38122432-38122434, 38122448, 38122459, 38122462-38122463, 38129405, 38130902-38130915, 38131034, 38147798, 38161738, 38165174-38165178
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732EIF2B530.9958448753462692166183853284-183853289, 183853292-183853293, 183862717
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735OPA130.999015748031533048193365921-193365923
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739SH3BP240.8960689283791119318572819951-2820117, 2822467, 2831383, 2831442-2831448, 2831461-2831462, 2831570-2831571, 2834763-2834774, 2835502
740HTT40.968501431753129794293076553-3076603, 3076604-3076792, 3127343-3127349, 3182303-3182308, 3182327-3182328, 3182334-3182338, 3201604-3201607, 3213776-3213786, 3213797-3213800, 3230670, 3230682, 3234891, 3234900, 3234912-3234914, 3234919-3234920, 3234931-3234937, 3240316, 3240674
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743MSX140.470394736842114839124861627-4862095, 4864507, 4864511, 4864515-4864517, 4864798-4864806
744EVC240.986758339699525239275578125-5578132, 5578135-5578136, 5710108-5710112, 5710120-5710122, 5710125, 5710128, 5710142-5710143, 5710147-5710149, 5710171-5710179, 5710206, 5710209-5710214, 5710225-5710235
745EVC40.9298422289358820929795713108-5713266, 5755633-5755636, 5755639-5755640, 5785471, 5785474, 5800388, 5800391, 5800419-5800421, 5800467, 5809967-5809976, 5809983-5810008
746WFS140.984661429105874126736303540, 6303544-6303546, 6303551, 6303878-6303910, 6303929-6303930, 6303936
747SLC2A940.996303142329026162310020643-10020645, 10020655, 10020670, 10020675
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750CNGA140.978070175438650228047954634-47954683
751SGCB40.965517241379313395752904393-52904425
752PDGFRA40.999694189602451327055127469
753KIT40.9836233367451448293155524182-55524225, 55524234-55524237
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756CDS140.99927849927851138685569758
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759SNCA40.971631205673761242390749311, 90756698-90756708
760MTTP40.9981378026070852685100529988-100529992
761MANBA40.9981060606060652640103681888-103681891, 103681999
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763HADH40.994708994708995945108911121, 108911198, 108911205, 108911209-108911210
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767MFSD840.9993577392421311557128859947
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771GLRB40.994645247657381494158041712-158041713, 158041722-158041727
772GK40.9957882069795471662166199426-166199432
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777SLC6A350.99785292538916418631414806-1414807, 1414811, 1414814
778SDHA50.7217125382263913271589386-1589390, 1593243-1593269, 1593323-1593329, 1594510-1594523, 1594532-1594569
779NDUFS650.98463751801589-1801594
780MTRR50.99586776859504921787869274, 7869279, 7869290-7869296
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785AMACR50.993037423846828114934007891, 34007897-34007902, 34008016
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793AP3B150.999391171993912328577563404, 77563407
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795VCAN50.99882249043273121019182836710-82836711, 82836736-82836744, 82837784
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799PCSK150.996905393457127226295746569-95746575
800WDR3650.9996498599439812856110441841
801LMNB150.927881885292451271761126113211-126113288, 126113376, 126113382, 126113419-126113421, 126113457-126113500
802FBN250.99301979631537618739127614472, 127680104-127680109, 127782229, 127873043-127873057, 127873110, 127873132, 127873173-127873175, 127873193-127873225
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804TGFBI50.97514619883041512052135364764, 135364796, 135364810-135364813, 135364817-135364829, 135364839-135364870
805MYOT50.9986639946559821497137221780, 137221784
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807MATR350.9964622641509492544138643163, 138651809-138651813, 138651819-138651821
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810SPINK550.99543378995434153285147504345-147504359
811ADRB250.9991948470209311242148207633
812SH3TC250.9997414016033113867148384419
813TCOF150.99701561065197134356149737321, 149737346, 149737364-149737366, 149737378-149737381, 149737390-149737393
814ITK50.9957058507783181863156641264-156641271
815NIPAL450.96359743040685511401156887228-156887231, 156887271-156887308, 156898670-156898674, 156898680-156898683
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817MSX250.84825870646766122804174151708, 174151731-174151740, 174151751-174151759, 174151762, 174151764, 174151769-174151808, 174151815, 174151818-174151826, 174151833, 174151849-174151854, 174151871-174151912, 174156212
818NSD150.9998764058830818091176687054
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821NHP250.991341991341994462177576714-177576717
822GRM650.83712984054674292634178415971, 178421454-178421461, 178421474, 178421479, 178421484-178421485, 178421488, 178421491, 178421507-178421543, 178421569-178421945
823SQSTM150.845049130763422051323179247937-179248141
824FLT450.969452590420331254092180045816, 180045894-180045896, 180045912-180045913, 180045918-180045919, 180046021-180046026, 180046036, 180046041, 180046044-180046046, 180046049, 180046052-180046053, 180046076-180046086, 180046096-180046109, 180046335-180046344, 180046724, 180048189-180048195, 180051054, 180057038, 180076488-180076545
825FOXC160.35860409145608106616621610702-1610718, 1610738-1610784, 1610802, 1610814-1610869, 1610884-1610894, 1610999-1611057, 1611065-1611130, 1611141-1611143, 1611175, 1611188-1611195, 1611209-1611227, 1611294-1612045, 1612058-1612062, 1612084, 1612087, 1612092-1612098, 1612138-1612139, 1612142-1612150, 1612177
826TUBB2B60.8923766816143514413383225140-3225146, 3225237-3225284, 3225399-3225419, 3225442-3225490, 3225560-3225576, 3226409, 3227758
827DSP60.99976787372331286167542163, 7542260
828TFAP2A60.996955859969564131410404763, 10404767, 10410321, 10410539
829DTNBP160.959280303030343105615533486-15533488, 15663061-15663100
830ATXN160.95016339869281122244816327486-16327487, 16327547, 16327598-16327601, 16327799-16327810, 16327827, 16327830-16327831, 16327841, 16327854-16327866, 16327873-16327945, 16327948-16327959, 16328058
831NHLRC160.9823232323232321118818122492, 18122498, 18122522, 18122526, 18122531, 18122680-18122685, 18122700, 18122707, 18122714-18122721
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946CYP11B280.95304232804233711512143993946-143993994, 143994026-143994032, 143994069-143994081, 143994266, 143994702
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948GPT80.81488933601612761491145730632, 145731231-145731310, 145731383-145731390, 145731397, 145731466-145731487, 145731495-145731514, 145731615, 145731656-145731659, 145731669-145731673, 145731678-145731708, 145731722-145731730, 145731750, 145731753-145731755, 145731776-145731778, 145731788-145731789, 145731884-145731892, 145731903-145731947, 145731983-145731987, 145731995-145732002, 145732008, 145732017, 145732021, 145732026-145732039, 145732305
949RECQL480.897711607389033713627145737094, 145737415, 145738343, 145738698-145738722, 145738745-145738753, 145738763-145738768, 145738777-145738784, 145738795-145738843, 145738955-145739002, 145739074-145739096, 145739320-145739323, 145739382-145739385, 145739391, 145739400, 145739407, 145739415, 145741656, 145741659-145741660, 145742810-145742864, 145742876-145742882, 145742888-145742892, 145742986-145743019, 145743085-145743168
950DOCK890.982698412698411096300214977-215029, 382562-382589, 382615-382631, 452030-452033, 452045-452051
951VLDLR90.970633104500387726222622190-2622247, 2622253-2622271
952KCNV290.9090354090354114916382717968, 2717974-2717976, 2717987-2717994, 2718004-2718044, 2718260, 2718281, 2718323-2718346, 2718370, 2718398, 2718401-2718402, 2718409, 2718415-2718416, 2718534-2718535, 2718546-2718569, 2718729-2718738, 2718743-2718746, 2718749, 2718956-2718962, 2718967-2718968, 2718971, 2718982, 2718984-2718993, 2719046
953GLIS390.9495166487647714127933856042-3856049, 4117819-4117821, 4118024-4118069, 4118107-4118114, 4118179-4118186, 4118191-4118196, 4118201-4118203, 4118208-4118209, 4118225-4118273, 4118293, 4118297, 4118312-4118313, 4118316, 4118321-4118322, 4118325
954JAK290.9997057958223133995077521
955GLDC90.971596474045058730636645251, 6645348-6645356, 6645359, 6645363-6645365, 6645373-6645391, 6645406, 6645432-6645484
956CDKN2A90.864118895966036447121971157, 21971167, 21971170, 21971173-21971175, 21974760-21974776, 21974786-21974826
957CDKN2A90.929118773946363752221971157, 21971167, 21971170, 21971173-21971175, 21994205-21994216, 21994219-21994221, 21994252, 21994282, 21994285-21994288, 21994354-21994357, 21994360-21994361, 21994365, 21994428, 21994438, 21994442
958TOPORS90.9926704907584423313832550787, 32550806-32550811, 32550818, 32550950-32550964
959B4GALT190.89557226399332125119733166874, 33166906-33166907, 33166913, 33166917-33166928, 33166937-33166942, 33166947, 33167026, 33167053-33167069, 33167079-33167131, 33167137-33167167
960VCP90.999173895084682242135072336-35072337
961FANCG90.999464954521131186935079494
962NPR290.9923664122137424314435792406-35792412, 35792420, 35792430-35792437, 35792692, 35792739-35792745
963GNE90.99734748010616226236217418, 36217429, 36217476, 36234056-36234058
964FXN90.864139020537128663371650699-71650700, 71650714-71650718, 71650743-71650748, 71650752, 71650757, 71650763, 71650772-71650777, 71650783, 71650786-71650793, 71650804-71650817, 71650823-71650863
965TMC190.996057818659669228375369740, 75369757, 75369781-75369785, 75403385-75403386
966VPS13A90.9984251968503915952579792711, 79820229, 79841404-79841406, 79841475, 79908422-79908424, 79928926, 79931234-79931237, 79932611
967AUH90.9323529411764769102094124090-94124104, 94124118-94124171
968ROR290.9579802259887119283294486025, 94495605-94495645, 94712169-94712245
969FANCC90.999403697078121167797912296
970PTCH190.9445211786372241434498209523-98209526, 98239920, 98239935, 98268689-98268807, 98270479-98270484, 98270506-98270510, 98270523, 98270530, 98270541-98270643
971FOXE190.134581105169349711122100616197-100617143, 100617167-100617190
972TGFBR190.93584656084656971512101867488-101867584
973ALG290.98161470823341231251101983912-101983919, 101984068, 101984088-101984091, 101984134, 101984137-101984145
974INVS90.99186991869919263198102988476, 103046718-103046740, 103046743-103046744
975ABCA190.99764220453876166786107556715-107556726, 107556787-107556790
976MUSK90.99310344827586182610113547817-113547818, 113547850-113547865
977DFNB3190.926211453744492012724117266645, 117266692-117266716, 117266784, 117266787, 117266800-117266834, 117266841-117266854, 117266859, 117266862-117266874, 117266910-117266920, 117266927-117266928, 117266931-117266936, 117266939-117266945, 117266948, 117266969-117266980, 117266995-117267038, 117267050-117267061, 117267067-117267081
978GSN90.97190293742018662349124062166-124062229, 124062250, 124065219
979NR5A190.864357864357861881386127245146-127245155, 127245160-127245174, 127245188-127245192, 127255324-127255325, 127262457, 127262461, 127262543-127262544, 127262737-127262740, 127262780, 127265406-127265427, 127265451-127265478, 127265486-127265499, 127265573-127265600, 127265608-127265640, 127265652-127265673
980LMX1B90.715817694369973181119129376854-129376859, 129377662-129377848, 129455573, 129456025-129456066, 129456081-129456083, 129456087-129456091, 129458124, 129458130-129458139, 129458156-129458174, 129458199-129458242
981STXBP190.97902869757174381812130374683-130374719, 130416010
982ENG90.98684876074861261977130588066, 130588077, 130616582-130616605
983DOLK90.9975262832405741617131708924-131708927
984TOR1A90.9469469469469553999132586187-132586188, 132586303, 132586315-132586364
985POMT190.99494949494949112178134393887-134393894, 134394816-134394818
986SETX90.99788399302962178034135139866, 135139869, 135139885, 135203654-135203667
987TTF190.99411331861663162718135277384-135277399
988CEL90.80757375605464372271135946481-135946487, 135946491-135946492, 135946505, 135946510-135946513, 135946520, 135946579, 135946644-135947064
989SURF190.9280177187153965903136223129-136223132, 136223136, 136223164-136223169, 136223276-136223329
990ADAMTS1390.951213818860882094284136293754-136293891, 136295059-136295097, 136295118-136295130, 136295171-136295185, 136301949, 136302009, 136302059-136302060
991DBH90.99029126213592181854136505002-136505008, 136522259, 136523499-136523503, 136523508-136523511, 136523527
992SARDH90.98766775480595342757136531943-136531951, 136535726-136535744, 136568108, 136568111, 136573412, 136573416, 136599010, 136599292
993COL5A190.977161500815661265517137534034-137534142, 137630637, 137705842-137705844, 137705851, 137705867-137705870, 137705873, 137710588-137710594
994LHX390.759305210918112911209139089294-139089339, 139089354-139089362, 139089369, 139089372-139089377, 139090569-139090570, 139090754-139090905, 139091722, 139091726, 139094792, 139094800, 139094805, 139094815-139094884
995INPP5E90.788113695090444101935139326359, 139326362-139326366, 139327014-139327017, 139327028, 139327037, 139327683, 139329277-139329280, 139333133-139333169, 139333201, 139333292-139333353, 139333361-139333364, 139333469-139333532, 139333592-139333641, 139333653-139333661, 139333675, 139333694, 139333708-139333871
996NOTCH190.946009389671364147668139390576-139390589, 139390826, 139390834, 139390843, 139390854-139390856, 139390916-139390925, 139390952-139390971, 139390987-139391020, 139391192-139391198, 139391279-139391292, 139391310, 139391314-139391324, 139391334-139391349, 139391398, 139391403-139391405, 139391416, 139391539-139391543, 139391547-139391551, 139391556, 139391625-139391628, 139391636, 139391778, 139391788-139391789, 139391792, 139391804-139391807, 139391817-139391819, 139391823-139391824, 139391839-139391849, 139391856-139391871, 139391894-139391907, 139391954-139391959, 139391970-139391971, 139391975-139391977, 139391990-139391997, 139395098-139395105, 139396286-139396287, 139396813-139396854, 139399205-139399209, 139399265-139399266, 139399280, 139399316, 139399951, 139399954, 139400160, 139400171, 139400183-139400185, 139400210, 139400214-139400215, 139400220-139400221, 139402688-139402723, 139403366-139403373, 139411767, 139411827, 139412373, 139417514, 139417581, 139417597, 139417608-139417610, 139440178-139440238
997AGPAT290.80764635603345161837139571103, 139571106, 139581651-139581809
998SLC34A390.863888888888892451800140127692-140127693, 140127702-140127703, 140127714-140127717, 140127725-140127726, 140127735, 140127741-140127746, 140127757, 140128132-140128133, 140128154-140128157, 140128320-140128384, 140128576-140128651, 140128657-140128671, 140128692-140128695, 140128868-140128873, 140128876-140128881, 140128896-140128900, 140128915, 140130725-140130731, 140130749-140130776, 140130855-140130860, 140130867-140130868
999EHMT190.971259943546321123897140513481-140513501, 140605432-140605433, 140605438-140605475, 140729264-140729305, 140729315, 140729324-140729325, 140729328, 140729356, 140729379-140729380, 140729385-140729386
1000SHOXX0.81114903299204166879591766, 595453-595499, 595530-595534, 595544, 595554-595561, 605191-605192, 605197-605203, 605208, 605251-605343, 605367
1001KAL1X0.9471365638766510820438699933-8699937, 8699975-8700077
1002GPR143X0.949019607843146512759733613-9733620, 9733664-9733720
1003CDKL5X0.998706757193664309318646676, 18646679-18646681
1004SMSX0.9554950045413349110121958943-21958991
1005ARXX0.76613380698638395168925025386, 25025400-25025406, 25031277-25031280, 25031333-25031358, 25031369-25031373, 25031442-25031482, 25031492-25031499, 25031510-25031812
1006RPGRX0.90199479618387339345938145329-38145337, 38145350-38145679
1007NYXX0.55809128630705639144641332834-41333306, 41333317, 41333320-41333321, 41333324-41333331, 41333340-41333454, 41333496-41333507, 41333516-41333539, 41333720-41333722, 41333725
1008SYN1X0.81586402266289390211847433504-47433508, 47433511-47433516, 47433529-47433532, 47433582-47433797, 47433820-47433824, 47433834-47433839, 47433956-47433958, 47434124-47434130, 47478756-47478758, 47478771-47478772, 47478805-47478852, 47478906-47478931, 47478969-47478982, 47478986, 47478992-47478997, 47479003, 47479054-47479066, 47479104-47479127
1009WASX0.9887342611000717150948547184-48547186, 48547189-48547195, 48547206-48547210, 48547233, 48547303
1010SYPX0.99256900212314794249056610-49056611, 49056621-49056625
1011CACNA1FX0.999831479609031593449087371
1012FOXP3X0.996141975308645129649107821-49107825
1013FGD1X0.9861399861399940288654494256-54494259, 54521795-54521802, 54521825-54521852
1014ARX0.95439739413681126276366765154-66765196, 66765216, 66765219-66765225, 66766204-66766232, 66766365-66766410
1015EDAX0.996598639455784117668836200-68836203
1016DLG3X0.9951100244498812245469665103, 69665160-69665163, 69665166-69665167, 69665252-69665255, 69665400
1017MED12X0.9954086317722730653470338605-70338616, 70338626-70338631, 70338695-70338698, 70338702-70338703, 70360626, 70360629, 70360635, 70360680-70360682
1018TAF1X0.96832101372756180568270586165-70586344
1019SLC16A2X0.9695982627578756184273641302-73641327, 73641335-73641341, 73641403-73641407, 73641419, 73641457-73641462, 73641466, 73641470-73641474, 73641480, 73641483-73641486
1020BRWD3X0.9942688112405331540980064940-80064970
1021PCDH19X0.999697519661221330699663574
1022GPC3X0.9971313826735551743133119391-133119395
1023HPRT1X0.9589041095890427657133594342-133594368
1024SLC9A6X0.99715099715162106135067915-135067919, 135067944
1025ZIC3X0.95512820512821631404136648985-136648987, 136649001, 136651088-136651090, 136651094, 136651100-136651154
1026SOX3X0.54138702460856151341139585885-139585889, 139585900-139585905, 139585930-139585942, 139585952-139586118, 139586136-139586524, 139586634, 139586760, 139586813-139586839, 139586848-139586850, 139586931-139586933
1027FAM58AX0.9442176870748341735152864462-152864480, 152864483-152864497, 152864510, 152864516-152864521
1028SLC6A8X0.859014675052412691908152954030-152954291, 152960626-152960632
1029ABCD1X0.98882931188561252238152990960-152990961, 153008473-153008486, 153008675-153008678, 153009062, 153009069, 153009075, 153009078, 153009086
1030MECP2X0.95858383433534621497153363061-153363122
1031OPN1LWX0.9990867579908711095153418541
1032OPN1MWX0.9936073059360771095153455595-153455601
1033OPN1MWX0.9936073059360771095153492713-153492719
1034FLNAX0.9993705941591157944153599566-153599568, 153599584, 153599592
1035EMDX0.9346405228758250765153607845-153607847, 153607872-153607875, 153607917, 153608093-153608097, 153608109-153608111, 153608121-153608154
1036TAZX0.9822560202788314789153640208-153640215, 153640238-153640243
1037G6PDX0.995726495726571638153760221-153760222, 153775039, 153775042-153775045
1038IKBKGX0.97540983606557361464153788622-153788641, 153792557-153792572
1039IKBKGX0.9672801635991816489153868355-153868370
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5MYH9-R1466Whomozygous0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
4PKP2-S140Fhet unknown0.008Dominant
pathogenic
Low clinical importance,
uncertain
Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%).
4LPL-N318Shet unknown0.005Dominant
pathogenic
Moderate clinical importance,
uncertain
Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease.
3CASP10-V410Ihet unknown0.031Dominant
protective
Low clinical importance,
likely
Reported 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).
3CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3TPMT-Y240Chomozygous0.037Complex/Other
pharmacogenetic
Low clinical importance,
well-established
Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
3TPMT-A154Thomozygous0.031Recessive
pharmacogenetic
Low clinical importance,
likely
Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
2.5COL4A1-Q1334Hhomozygous0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SEMA4A-R713Qhet unknown0.062Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2XYLT1-A115Shet unknown0.009Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign)
2ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
2ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PPARG-P12Ahet unknown0.051Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1.375PEX2-W250Rhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes.
1.375PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-L425Shet unknown0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1.25SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-A206Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
1ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCR5-S185Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKD1L2-L2414Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G2257Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD1L2-S2207Thet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S2207Thet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-L2117Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Y2079ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PKD1L2-A2054Thomozygous0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Y2048Shomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P2045Lhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q2035Rhomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G1847Rhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q1701Hhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-S1665Yhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-K1575*het unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1PKD1L2-N1330Dhet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD1L2-N1330Dhet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD1L2-S1326Phet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-A863Vhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-L711Phomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P512Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-K416Qhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1PKD1L2-E221Ghomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q220*het unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-G129Dhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-Q120Lhet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-W73Rhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PKD1L2-V20Ahet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported 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).
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BMP3-Y67Nhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
1BMP3-L205Fhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.17 (benign)
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NEB-I6534Vhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-T4980Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-W3348ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-P2846Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-P225Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCG8-Y54Chomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
1ABCG8-R543Shet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia.
1ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PRODH2-P91Rhomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
1TTN-R30395Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I29477Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V28135Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D24019Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E22033Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R21422Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A14593Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-IAPEEE10816Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T8694Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R7402Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R1441Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R328Chet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D60Yhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP1-A18Vhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
1NR_027127-W61*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NAT2-R197Qhomozygous0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLCO1B1-V174Ahet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MTHFR-E429Ahomozygous0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-T33ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-M25ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-A69Shomozygous0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HTATSF1-H401Rhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1DGKK-D1111Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HUS1B-D268Yhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HUS1B-H130Qhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1NR3C1-N363Shet unknown0.020Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFD1-R653Qhomozygous0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCB1-N21Dhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AIM1-Q293Phomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-C1395Yhomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-W458ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDKN1A-S31Rhet unknown0.271Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CYP2D6-H94Rhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP2D6-L91Mhomozygous0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP2D6-P34Shomozygous0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-C413Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V671Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DPYD-M166Vhet unknown0.050Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chet unknown0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FUT2-W154*homozygous0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1FUT2-G258Shomozygous0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-R2761Qhomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EPHX1-Y113Hhomozygous0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
1AMPD1-P48Lhet unknown0.047Unknown
benign
Low clinical importance,
uncertain
Probably benign, ancestral to15173240 pathogenic Q12X mutation.
1AMPD1-Q12*het unknown0.041Recessive
pathogenic
Low clinical importance,
likely
Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PCSK9-R46Lhet unknown0.011Unknown
protective
Moderate clinical importance,
likely
This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers).
1PCSK9-V474Ihet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.75NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.75NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.75KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNJ11-L270Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNJ11-K23Ehet unknown0.711Unknown
protective
Low clinical importance,
likely
This 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.
0.625TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625TEP1-V667Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625BRCA2-N372Hhet unknown0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.625BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MTRR-I49Mhet unknown0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGF-E304Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RARS2-V235Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-P1659Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.5GBP5-A119Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-T485Khet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TIAM2-R332Hhomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5TIAM2-R973Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.959 (probably damaging)
0.5TIAM2-S1089Phomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L8741Mhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELN-G422Shomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELN-G581Rhet unknown0.048Unknown
benign
Low clinical importance,
uncertain
Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).
0.5NPSR1-N107Ihomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCE-S204Lhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCE-A502Thet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q571Rhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PPM1J-G488Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PPM1J-V236Ihomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
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
0.5PAK1IP1-G124Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FLT4-R1146Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLT4-N149Dhet unknown0.023Unknown
benign
Low clinical importance,
likely
Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.
0.5SLC34A1-T413Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5F12-A207Phomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F12-L120Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.656 (possibly damaging), Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS2-P1177Shomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5ADAMTS2-V245Ihet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NRM-R240Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5DNAH8-T3707Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH8-I4271Vhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMED5-Q188*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TMED5-T175Ihomozygous0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MFN2-V705Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5AX747691-Q90Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX747691-A34Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhomozygous0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E73Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A3-S400Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A3-R399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LEPR-K109Rhomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5ACTL7A-R395Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5DFNB31-N796Khomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1539-T341Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLEC-T4044Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2969Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R706Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R902Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5DDX58-R546Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GSN-R481Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.505 (possibly damaging), Testable gene in GeneTests
0.5SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1217-A887Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KIAA1217-R1627Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TUBAL3-R250Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EXD3-V504Mhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-E322Dhomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-D287Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5EXD3-R220Qhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-A160Thet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R20Qhomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK8-D130Ghet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK8-I5Thet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMP8B-R389Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5SNAPC4-G1342Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ENTPD2-A103Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCRIB-V674Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCRIB-E466Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5SCRIB-P422Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G920Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5NAA38-R11*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAMB1-I1547Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PON1-L55Mhomozygous0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBM33-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGH-T151Ihet unknown0.089Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging)
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL9A2-L335Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FOXJ3-M595Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FOXJ3-T377Phet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FOXJ3-V162Ahomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPCS-S199Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5ASAH1-V246Ahomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TOE1-R341Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC18A1-L392Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC18A1-I136Thomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC18A1-S98Thet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5SLC18A1-T4Phet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUTYH-Q311Hhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5MUTYH-V8Mhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDHB16-R202Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-Q638Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-A710Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GALNT10-R86Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR2-C72Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VIL1-R478Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CCDC108-D1234Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CCDC108-M66Lhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-T124Mhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PLXNB1-W656Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLXNB1-P435Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5USP21-P91Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM129A-R34Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AGXT-P11Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PASK-T1195Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PASK-V250Ihet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ITPR1-M769Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.59 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EFHB-A550Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EFHB-T382Ihomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFHB-V331Ihet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2-R1653Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-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
0.5ALK-D1529Ehomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PM20D1-N467Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PM20D1-R153Whomozygous0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PM20D1-I149Vhomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XDH-I703Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests
0.5XDH-I646Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-N3199Dhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3115Ahet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-L2886Fhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-V2562Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAJC5G-G27Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5EIF2B4-R326Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP2B4-S1053Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5NR_003131-R64Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A2-T1230Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM51-P251Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MPHOSPH10-E69Ahet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.668 (possibly damaging)
0.5MPHOSPH10-E229Dhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MPHOSPH10-L425Mhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5MPHOSPH10-E634Khet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.978 (probably damaging)
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-T3542Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH6-H55Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DNAH6-V141Mhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-V786Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.339 (possibly damaging)
0.5SNRNP200-L403Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNRNP200-M387Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IMPG2-N918Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5IMPG2-T674Ihomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERBB2IP-S274Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ERBB2IP-L334Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CCDC125-R97*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CCDC125-V13Mhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.134 (benign)
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-R3564Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y3105Dhet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5IL7R-S453Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD1-G114Dhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5UFSP2-K103Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMYA5-Y64Chet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K166Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.683 (possibly damaging)
0.5CMYA5-G349Dhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-G591Dhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-F594Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CMYA5-S651Rhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V1006Ahet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.074 (benign)
0.5CMYA5-F1038Lhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.707 (possibly damaging)
0.5CMYA5-A1295Vhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-I1309Vhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-A1333Vhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-I1380Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-A1567Ehet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CMYA5-S1599Ahet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5CMYA5-L1669Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5CMYA5-I1713Nhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5CMYA5-I1721Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-A1875Vhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.143 (benign)
0.5CMYA5-D1917Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CMYA5-S1920Ghet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-V2262Lhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CMYA5-T2693Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-R2708Hhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-K2906Nhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMYA5-H3358Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCAN-K1516Rhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDHB10-T213Rhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.885 (probably damaging)
0.5PCDHB10-D446Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PCDHB10-A467Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-G655Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGSF3-V920Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-R2733Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-M3526Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAM29-R530Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NES-P1275Lhet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-R1133Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5NES-P1101Lhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5NES-V815Ihet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.5HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-Q302Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CROCC-D463Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CROCC-D586Hhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R691Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.873 (probably damaging)
0.5CROCC-R903Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EIF2B5-I587Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATR-V959Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATR-K764Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.741 (possibly damaging)
0.5ATR-V316Ihet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5ATR-M211Thomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAB7A-E116Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A6-A370Thomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5COL6A6-Y1655Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NPHP3-P965Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.563 (possibly damaging), Testable gene in GeneTests
0.5CEP63-Q185Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CEP63-S651Lhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R456Hhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FRYL-I586Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.85 (probably damaging)
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5ALDH4A1-P16Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BANK1-W40Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDHA2-R286Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RUSC1-M470Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5IGFBP7-T188Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5UGT2B7-Y268Hhomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTC-R146Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5QSOX2-R524Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5QSOX2-K126Ehet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TJP1-R1083Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5PER1-A962Phomozygous0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.5PER1-P859Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5MYH13-D1614Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5MYH8-A636Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLII-F20Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MYH1-R1272Whet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TK2-P33Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TK2-K30Rhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5LRRC50-Q307Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCA-T1328Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.036Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.
0.5FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-P643Ahet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETV4-R437Chet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TSEN54-V190Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT9-P145Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD300LG-A231Shifthet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MPO-M519Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBL2-R116Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RBL2-Y210Chomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-S143Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELL3-W140Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5WDR76-S153Ahomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR76-M621Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5SPG11-F463Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GATM-Q110Hhomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-R1521Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-R1065Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5TRPM1-D1370Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5TRPM1-P399Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DISP2-P47Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DISP2-C56Shet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5DISP2-Y375Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4D-R807Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5PLA2G4D-R783Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PLA2G4D-K639Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4D-Y627Chet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-R601Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4D-R573Whet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-P10Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.5MGA-P628Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5DMXL2-S1288Phet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DMXL2-R650Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DMXL2-T497Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC6A-Q1112Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SPN-V269Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TPSG1-F288Lhet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPSG1-T239Ihomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TPSG1-T75Khet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WDR90-P250Lhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5WDR90-V537Ahet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5WDR90-H899Qhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5WDR90-P1001Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5WDR90-R1492Hhet unknown0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5WDR90-R1600Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBC1D21-R83Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ADAMTSL3-L290Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VPS33B-G514Shet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS33B-R389Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5BLM-P868Lhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-V392Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CBR3-C4Yhomozygous0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNB1L-C70Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5GNB1L-R37Hhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NRIP1-R448Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NINL-R1276Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX21-A154Thomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5SNX21-H179Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BIRC7-R60Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-Q90*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASMTL-H528Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ASMTL-V458Mhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.098 (benign)
0.5ASMTL-G434Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASMTL-Y364Hhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ASMTL-S228Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A4-A46Thet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC5A4-T4Mhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5CDC42EP1-R97Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRIOBP-S217Nhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-S540Delhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-P1030Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5TAB1-T446Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5MICALL1-R285Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICALL1-A519Shomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALL1-H685Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZIM3-K438*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZIM3-I379Vhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5ZIM3-N157Dhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZIM3-L69Mhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5MAN2B1-N413Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GADD45GIP1-K127Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-H1133Qhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5ZNF781-T97Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5LSR-R519RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LSR-E645Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TYK2-G363Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PRTN3-R249Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ELANE-A224Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.05 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELANE-S225Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR108-T241Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5GPR108-Q36Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF177-D94Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5ZNF177-T112Mhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RYR1-E3583Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L142Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLK13-H109Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ZNF813-S146Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZNF813-K446Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NLRP12-F402Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5NLRP8-P25Lhet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.793 (possibly damaging)
0.5NLRP8-V116Lhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP8-V782Ahet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP8-N877Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5NLRP8-K937Rhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5NLRP8-*1049Yhet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MED25-Q671Phet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests
0.5DHDH-D38Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5ZNF546-P664Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-P4788Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-G4506Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-P1436Lhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEACAM1-G436Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ZC3H4-P1109Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GLIS2-V126Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PABPC3-K231Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.712 (possibly damaging)
0.5PABPC3-K312Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-E345*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PABPC3-R469Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PABPC3-R475Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GNB3-G272Shet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.184 (benign)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001080841-V80Ahet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DCP1B-N195Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5ZNF202-K259Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5ZNF202-V154Ahet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-I723Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-P2557Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDS-K21Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-S879Ahet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HSP90B1-P321Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5KRT6B-Y497Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT1-K633Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT1-G581Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT1-R38Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BBS10-P539Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5GNPTAB-Y477Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GNPTAB-I167Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATM-S707Phet unknown0.006Unknown
benign
Low clinical importance,
uncertain
Probably not pathogenic, several papers conclude it is not associated with breast cancer.
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1377-G238Chomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1377-H308Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KIAA1377-S1077Nhomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-P407Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TACC2-E1916Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-V2197Ahet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A2210Vhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TACC2-L2261Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2754Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TRIM22-D155Nhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZDHHC6-D41Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NOC3L-P444Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NOC3L-E45Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FAM178A-R388Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM178A-S541Yhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.442 (possibly damaging)
0.5COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF215-F301Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZNF215-V323Lhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCUBE2-H712Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCUBE2-T285Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STX5-R333Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STX5-R121Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NUDT22-T129Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5NUDT22-Q260Rhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUDT22-L263Phomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EXT2-S237Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5NELL1-R82Qhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NELL1-G796Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5QSER1-V385Ihomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5QSER1-N501Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5QSER1-N1018Shomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5TNFSF11-P36Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests
0.5MRPS31-T241Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-R184Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-N3130Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-N3982Hhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-P4912Ahet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ESR2-R221Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-E624Qhet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype.
0.5GPC6-R555Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5SERPINA12-L203Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5MYH6-A1130Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KTN1-E620Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RAD51L1-K243Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AHNAK2-E2503Ahomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-L2146Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5AHNAK2-E1856Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-G1404Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK2-M1298Ihomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5MDP1-G153Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HEATR4-R191Chet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.375CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.375CPN2-Q509Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-V257Mhet unknown0.092Unknown
benign
Low clinical importance,
uncertain
This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FMO2-D36Ghet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25RNF39-A304Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MICA-R29Phet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.25DMPK-L423Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN15-G19Dhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.25TSEN15-Q59Hhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.25FPR1-E346Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAI1-V335Ihet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SNX31-D428Ghet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX31-M380Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SNX31-Q309Rhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SNX31-D73Hhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.312 (possibly damaging)
0.25CFHR1-L159Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PHF2-A989Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PHF2-ST997TPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-S1935Ghet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-S1401Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-P389Thomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1230Phet unknown0.031Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SBF2-Q1216Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KNDC1-E436Ghet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KNDC1-V806Dhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25KNDC1-S1018Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-S890Lhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-A398Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1R-R1335Ghomozygous0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25MST1R-S1195Ghomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MST1R-Q523Rhomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MST1R-L398Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-LQ328P*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-E592Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.18 (benign)
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC033456-K101Ehomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC033456-Q54Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CRIPAK-C27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CRIPAK-A44Thet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CRIPAK-H95Rhet unknown0.763Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25CRIPAK-M286Thet unknown0.571Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CRIPAK-S288Ghet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C16orf85-E145DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C16orf85-R98Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C16orf85-P25Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MPDU1-A229Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP1-M1184Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-V1059Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25DDX51-K637*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25DDX51-Q295Rhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.674 (possibly damaging)
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GNA15-L81Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GNA15-L81Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GNA15-Y147Chomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TIRAP-G173Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TIRAP-C174Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MYO7A-S1666Chet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD27-S657Ghet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.25ANKRD27-S647Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.25RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TAP2-*703Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAP2-T665Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25FRZB-R324Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C17orf55-V50Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf55-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0TGM1-A700Phet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis.
0PAH-V245Ahet unknown0.008Recessive
pathogenic
Low clinical importance,
uncertain
This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,779,274,293 bases (97.2% of callable positions, 90.2% of total positions)

Coding region coverage: 31,971,823 bases (96.1% of all genes, 97.2% 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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