- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1GBA-L483PHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
Causes Gaucher's disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease.1
2C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
6TGIF1-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
7TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
8TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
9SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
10H6PD-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
11ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
12ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
13FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
14CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
15PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
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
16CFH-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
17IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
18KCNJ11-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
19DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
20NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
21CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
22KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24RPGRIP1-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
25APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
26TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
27ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
28TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
29NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
30MUSK-T100MLowUncertainUncertain benign

Unknown, Heterozygous
0.023413Probably benign.1
31KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
32FANCA-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
33PALB2-E672QLowUncertainUncertain benign

Unknown, Heterozygous
0.0244469Probably benign.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
36PKP2-L366PLowUncertainUncertain benign

Unknown, Homozygous
0.221231This variant is a benign polymorphism. 1
37SLC45A2-L374FLowUncertainUncertain benign

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

Exome coverage: 31883334 / 33282720 = 95.80%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.639622026718822126138955553-955744, 955750-955753, 957697-957698, 957772-957780, 970657-970704, 976045-976082, 976108-976116, 976119, 976145-976260, 976576-976599, 976611-976654, 976665-976695, 976730, 976736-976738, 976858-976870, 976965, 977056-977082, 977416-977457, 977480, 977483, 977489, 978619-978622, 978627-978629, 978637, 978667-978673, 978748-978791, 978918-978922, 978958, 978983-979000, 979008-979020, 979029, 979063-979069, 979093-979112, 979291-979339, 979387-979388, 979394-979403, 979489-979510, 979544-979567, 979583, 979614, 979788-979789, 979813-979819, 980623, 980627, 980631, 980634-980637, 980784-980785, 980789-980807, 980821, 980861-980863, 980890, 980902-980903, 981143-981144, 981149, 981153, 981156-981157, 981195, 981213-981254, 981399-981414, 981450-981468, 981540, 981549-981553, 981564, 981607, 981619-981630, 981777-981807, 981818-981831, 981835-981838, 981845, 981853, 981859, 981872-981885, 981891-981938, 981954-982013, 982022-982067, 982090-982092, 982250-982321, 982728-982729, 982741, 982799-982802, 982805, 982954, 982959, 982969-982982, 982994, 983010-983012, 983035-983057, 983065, 983156-983183, 983189, 983217, 983223, 983248-983269, 983427-983463, 983470-983508, 983538-983563, 983591-983745, 984247-984439, 984627-984686, 984728-984731, 984736-984766, 984946-984966, 984977-985011, 985035-985056, 985150-985151, 985159-985165, 985168, 985283-985285, 985335, 985613-985644, 985670-985685, 985698-985702, 985836-985858, 986122-986123, 986176-986177, 986186, 986202, 986635-986653, 986670-986717, 986723, 986732, 986746, 986833-986836, 986841, 986907, 986988-986995, 987108-987114, 987149-987160, 990280
2GABRD10.949963208241356813591950863-1950930
3PEX1010.9969418960244639812337937, 2337942, 2343856
4NPHP410.9623919644942816142815947378-5947389, 5947497-5947500, 6038330-6038473, 6046269
5ESPN10.964912280701759025656485281-6485283, 6488378-6488392, 6500775-6500791, 6500864-6500868, 6505844-6505893
6PLEKHG510.9978049545312731896529183-6529185, 6557380-6557383
7PARK710.9912280701754455708030955-8030957, 8030961-8030962
8PEX1410.99735449735453113410535024-10535025, 10659332
9TARDBP10.9654618473895643124511082243-11082278, 11082356-11082362
10MASP210.94226103833091119206111103067, 11103500, 11103508-11103509, 11103561-11103564, 11105480-11105520, 11106675, 11106770-11106790, 11106961-11106963, 11106968-11106984, 11107081-11107108
11MTHFR10.996448503297827197111854543-11854549
12PLOD110.970238095238165218411994868, 11994871-11994876, 12017003, 12026317-12026353, 12026370, 12030756, 12030804-12030817, 12030870-12030873
13CLCNKA10.9932170542635714206416354391-16354397, 16356985-16356991
14CLCNKB10.9835271317829534206416373044-16373050, 16378722-16378747, 16383402
15ATP13A210.99971775331641354317319011
16HSPG210.99461141469338711317622186061-22186067, 22186410, 22263648-22263710
17WNT410.9270833333333377105622469339-22469415
18RPL1110.99068901303538553724019123, 24019168, 24019186, 24019199, 24019208
19FUCA110.9685938615274844140124180983, 24180989-24180993, 24194397-24194398, 24194451, 24194457-24194458, 24194471-24194473, 24194571, 24194612, 24194629-24194631, 24194640-24194645, 24194688-24194706
20SEPN110.89028776978417183166826126722-26126904
21YARS10.9798361688720932158733252550-33252562, 33252661, 33256813, 33282829-33282845
22KCNQ410.9717432950191659208841249766-41249770, 41249775, 41249818, 41249850-41249878, 41284242, 41284281, 41284308-41284325, 41284328-41284330
23LEPRE110.999095431931252221143232533-43232534
24EIF2B310.9690949227373142135945392370-45392411
25STIL10.999741401603311386747767947
26ORC110.987625676720832258652838894-52838911, 52840557-52840560, 52841190-52841199
27CPT210.9888720283257522197753662693, 53676936-53676940, 53678936-53678949, 53679222, 53679229
28DHCR2410.9845261121856924155155352656-55352679
29PCSK910.9850889850889931207955505549-55505579
30ALG610.999346405228761153063836708
31LEPR10.9934248141795323349866036429-66036451
32CTH10.9737274220032832121870904396-70904414, 70904441-70904443, 70904452, 70904495-70904502, 70904509
33GLMN10.997198879551825178592713474, 92754623, 92755861, 92756996, 92757032
34ABCA410.999560246262093682294586585-94586587
35AGL10.9556425309852044599100316612-100316634, 100316668, 100327855-100327886, 100327940-100327941, 100330024-100330027, 100340248, 100340796-100340807, 100345524-100345525, 100349691, 100349760-100349766, 100357194-100357202, 100357247-100357248, 100357252, 100357276, 100357283, 100358066, 100358118-100358121, 100358137, 100361849, 100361862-100361885, 100361891-100361931, 100366193, 100366197-100366203, 100366279, 100366334-100366354, 100366415-100366417
36COL11A110.98570643210555785457103345292-103345336, 103345362-103345364, 103345444-103345448, 103345471-103345472, 103364282-103364284, 103412410-103412420, 103544371-103544379
37GSTM110.54794520547945297657110230496-110230531, 110230792-110230794, 110230854, 110231302-110231304, 110231871-110231877, 110231891-110231947, 110232904-110232988, 110233076-110233123, 110233131-110233141, 110235872-110235917
38AMPD110.97237076648841622244115215737-115215741, 115215859, 115216271-115216277, 115216350-115216355, 115216556-115216573, 115216600, 115217391-115217410, 115218286-115218288, 115218292
39VANGL110.9980952380952431575116227956-116227958
40NOTCH210.99029126213592727416120510082-120510083, 120529592-120529593, 120529604, 120529641, 120529662, 120539665-120539714, 120539778-120539784, 120539916, 120539936, 120572609-120572610, 120611960, 120611989, 120612003-120612004
41HFE210.97580015612802311281145414830, 145414845, 145414867, 145415337, 145415760-145415761, 145415810, 145415814, 145416326-145416332, 145416604-145416619
42CTSK10.994949494949495990150778337-150778341
43FLG10.167651403249631014312186152275176-152275212, 152275267-152275273, 152275304-152275349, 152275474-152275524, 152275535-152275542, 152275587-152275592, 152275608-152275634, 152275655-152275687, 152275716, 152275731-152275770, 152275783-152275796, 152275828, 152275835, 152275848-152275858, 152275894-152275895, 152275900, 152275940-152276004, 152276011-152276030, 152276042-152276098, 152276109, 152276130-152276175, 152276191-152276324, 152276338-152276509, 152276515-152276553, 152276577-152276584, 152276598, 152276616, 152276626-152276628, 152276637-152276692, 152276699, 152276716-152276726, 152276748-152276982, 152276991-152276997, 152277011-152277037, 152277041-152277049, 152277052-152277068, 152277080-152277202, 152277219-152277482, 152277489-152277745, 152277751-152278705, 152278715, 152278733-152279937, 152279954-152280329, 152280336-152280434, 152280454-152280505, 152280521-152280762, 152280782, 152280803-152280829, 152280853-152280894, 152280900, 152280929-152280968, 152280977, 152281003-152281090, 152281111-152281119, 152281146-152281182, 152281200-152281208, 152281228-152281358, 152281373-152281421, 152281441-152281674, 152281686-152282332, 152282355-152282973, 152282982-152283294, 152283302-152283318, 152283324-152283361, 152283371-152283597, 152283605-152283710, 152283718-152283725, 152283744-152283786, 152283792, 152283808, 152283811-152283828, 152283839-152284091, 152284101-152284383, 152284392-152284530, 152284563-152284614, 152284626-152284778, 152284792-152285027, 152285037-152285060, 152285073-152285161, 152285175-152285204, 152285211-152285416, 152285425-152285428, 152285435-152285571, 152285588, 152285604, 152285626-152285711, 152285726-152285756, 152285780-152285821, 152285847-152286057, 152286081, 152286090, 152286097-152286099, 152286105-152286111, 152286124-152286336, 152286361-152286390, 152286399-152286416, 152286432-152286504, 152286531-152286579, 152286595, 152286601, 152286606-152286618, 152286628-152286634, 152286693-152286709, 152286733-152286737, 152286769-152286779, 152286783-152286784, 152286803-152286903, 152286964-152286971, 152286983, 152286998-152287028, 152287033, 152287054-152287063, 152287093-152287094, 152287106-152287109, 152287122, 152287151-152287196, 152287803-152287809, 152287862-152287875, 152287923-152287932
44HAX110.78333333333333182840154245217, 154245812-154245818, 154245841-154245883, 154245905-154245918, 154245921, 154245938-154245980, 154246063-154246069, 154246259, 154246265, 154246268, 154246275-154246278, 154246305, 154246321, 154246324-154246326, 154246387-154246401, 154246404-154246410, 154247437, 154247443-154247444, 154247472-154247477, 154247723-154247736, 154247937-154247945
45GBA10.9991645781119511197155186742
46GBA10.96958410924891491611155205518, 155207962-155208009
47PKLR10.9663768115942581725155264089-155264136, 155265013-155265014, 155265019, 155269913, 155269991-155269995, 155269999
48MPZ10.9678249678249725777161279696-161279720
49SDHC10.9568627450980422510161332137-161332158
50SLC19A210.9993306559571611494169437882
51F510.99535580524345316675169510380, 169510499-169510528
52DARS210.98090815273478371938173794397, 173794459-173794467, 173795830-173795831, 173795923-173795924, 173797521-173797533, 173810018, 173810095-173810103
53SERPINC110.9942652329749181395173878903-173878910
54RNASEL10.99550763701707102226182545391-182545399, 182545434
55HMCN110.9933759167258111216908185704059-185704073, 185704134, 185704175-185704179, 185897756, 185951485, 185958708-185958722, 185962397-185962399, 185964106-185964109, 185984505, 186014964, 186017930-186017954, 186023033-186023050, 186055458, 186057365-186057376, 186062275, 186063440-186063441, 186064574, 186135320-186135324
56PDC10.997300944669372741186413342, 186413370
57CFH10.995670995671163696196648858-196648871, 196648876, 196658726
58CFHR510.99415204678363101710196971675-196971677, 196971711, 196971785, 196977651-196977654, 196977786
59CRB110.9995261786306624221197316547, 197316552
60USH2A10.993785636491779715609215823945, 215972328-215972348, 216262433-216262435, 216262455, 216496823-216496833, 216496859-216496861, 216496864, 216496872-216496874, 216496888-216496911, 216496939-216496959, 216496969-216496972, 216497601-216497603, 216498822
61ADCK310.99022633744856191944227152903-227152905, 227152908, 227152925, 227174290-227174303
62GJC210.94166666666667771320228345646, 228345799-228345800, 228345913-228345915, 228346059-228346062, 228346087, 228346096-228346117, 228346213-228346217, 228346285-228346294, 228346430-228346457, 228346483
63ACTA110.97971781305115231134229568036-229568047, 229568121-229568130, 229568134
64LYST10.9732596878835730511406235896816, 235896851, 235896854-235896885, 235896991, 235897783-235897787, 235897815, 235897840-235897843, 235904750-235904752, 235904766-235904798, 235904844, 235904856-235904857, 235904881, 235907279-235907281, 235907304-235907323, 235907346, 235907349-235907355, 235907360-235907361, 235907364, 235907367-235907376, 235907421-235907433, 235909636-235909645, 235909780-235909795, 235909810, 235914565, 235914596, 235914630-235914662, 235915305-235915310, 235916507, 235929415-235929416, 235937148-235937149, 235938385-235938386, 235945227-235945229, 235950562, 235950607-235950608, 235950630-235950657, 235955040, 235955389, 235956876, 235964282-235964289, 235966326, 235967840-235967843, 235967901, 235967943-235967944, 235969210-235969220, 235969224-235969230, 235969885, 235971776-235971780, 235971917, 235972590, 235972938-235972942, 235973216-235973217, 235973590, 235976289
65ACTN210.960521415270021062685236850030-236850038, 236881259-236881272, 236882303, 236882312, 236902815-236902821, 236907963-236907964, 236918329, 236918339-236918340, 236918410, 236918487, 236920803-236920834, 236924326-236924329, 236924405-236924428, 236925830, 236925869-236925874
66RYR210.9764492753623235114904237604688, 237604703-237604704, 237632462, 237729912, 237729918, 237729983-237730013, 237787107-237787120, 237787161, 237788988, 237791145-237791171, 237791179-237791186, 237791249-237791255, 237791273-237791278, 237791282-237791294, 237791378-237791379, 237794770, 237796890-237796897, 237796903-237796907, 237796927, 237796947-237796970, 237797004-237797010, 237798203, 237798234, 237811847-237811853, 237813314, 237814783, 237817611, 237817647-237817677, 237817688, 237817691-237817692, 237817708-237817714, 237819178-237819226, 237821244-237821303, 237823314, 237823317-237823318, 237824128, 237837505, 237863601, 237865347-237865357, 237870384, 237870453, 237872309-237872311, 237872314, 237872808, 237881793, 237881801-237881802
67NET1100.9313232830820812317915454656-5454680, 5454701-5454783, 5494403, 5494461-5494463, 5494466, 5494480, 5495501-5495508, 5498930
68GATA3100.99925093632959113358115951
69PHYH100.9783677482792522101713340236, 13341997-13342017
70CUBN100.99328550404709731087216873360, 16882518, 16979661, 16979711-16979717, 17088034, 17088039-17088043, 17089501-17089507, 17142058, 17142200, 17146565, 17146569-17146570, 17146575-17146577, 17151708, 17152991-17152997, 17156151, 17164820-17164827, 17164831, 17164859-17164870, 17164894-17164897, 17165675, 17165683-17165685, 17169858, 17171120, 17171227-17171228
71PTF1A100.950354609929084998723481460, 23481661-23481664, 23481667, 23481740-23481742, 23481750-23481777, 23481847, 23481851, 23481860, 23481901-23481905, 23481909, 23481944, 23482084-23482085
72MYO3A100.95650381364667211485126359060-26359068, 26359128-26359132, 26359247-26359255, 26377132-26377134, 26385320-26385321, 26409614-26409625, 26414398-26414405, 26414419, 26417437, 26417440-26417442, 26432377, 26432486-26432522, 26434397-26434417, 26434432, 26434442-26434446, 26436359-26436370, 26436408-26436488
73PDSS1100.9615384615384648124826986709, 26986744-26986754, 26994258-26994279, 26998589-26998595, 27031484-27031490
74MASTL100.999620781190751263727459003
75RET100.9778774289985174334543572707-43572779, 43606870
76ERCC6100.95961624274877181448250736466-50736480, 50736484-50736486, 50736502-50736509, 50738766-50738812, 50740652-50740704, 50740727, 50740785-50740786, 50740790-50740840, 50740876
77CHAT100.94303515798843128224750822361-50822372, 50822400-50822410, 50827844-50827845, 50827916-50827926, 50833648-50833652, 50835716-50835737, 50835761-50835798, 50835805-50835831
78PCDH15100.88249278315503692588955581661, 55581703-55581731, 55581767-55581769, 55581775-55581803, 55581821, 55581868-55581891, 55581951-55581980, 55582003-55582038, 55582097-55582107, 55582112, 55582134-55582199, 55582225-55582232, 55582238-55582239, 55582325-55582326, 55582331-55582368, 55582391-55582419, 55582459-55582475, 55582526-55582575, 55582613, 55582641-55582656, 55582757, 55582944-55582947, 55582954-55582956, 55583016-55583026, 55583030, 55583033-55583037, 55583083-55583103, 55587153-55587242, 55587268-55587269, 55587272-55587273, 55591139, 55591142, 55591157-55591189, 55591231-55591235, 55591242-55591251, 55591292-55591293, 55600110-55600111, 55600182-55600188, 55600193-55600194, 55600217-55600234, 55626449-55626471, 55944924, 55944941, 55944970-55945004, 56128942-56128952, 56128989-56128993, 56129026
79EGR2100.998602375960872143164573196, 64573323
80KIAA1279100.99946409431941186670760275
81VCL100.9926578560939825340575758017-75758020, 75758045-75758048, 75758057-75758064, 75758074, 75758100-75758107
82GLUD1100.81454979129398311167788819000, 88820510, 88820546, 88822536-88822542, 88836362-88836380, 88854090, 88854094, 88854133-88854170, 88854197-88854221, 88854234-88854239, 88854243-88854290, 88854310, 88854315-88854316, 88854335-88854362, 88854369, 88854389-88854519
83PTEN100.9381188118811975121289653797-89653809, 89653812, 89653835-89653849, 89690803-89690821, 89690841-89690846, 89692919, 89692926-89692940, 89711885, 89711895, 89725227-89725229
84ACTA2100.9735449735449730113490695064-90695065, 90700986-90700988, 90701104, 90707032-90707055
85FAS100.998015873015872100890774007, 90774112
86LIPA100.999166666666671120090974606
87PDE6C100.999611951882031257795399850
88LGI1100.999402628434891167495537357
89PLCE1100.99768418005516690996005985-96005986, 96058364-96058376, 96066341
90HPS1100.9995251661918312106100177382
91ABCC2100.999784389823214638101591817
92FBXW4100.9975786924939531239103454358-103454360
93HPS6100.98754295532646292328103825342, 103825393, 103825484-103825496, 103825811-103825812, 103826019, 103826023-103826026, 103826224-103826230
94COL17A1100.922563417890523484494105791999-105792001, 105792043-105792048, 105792432-105792446, 105792472-105792512, 105792680-105792705, 105793026-105793078, 105793102, 105793709, 105793712-105793715, 105793748-105793756, 105793773-105793775, 105793785-105793865, 105793955-105793975, 105794033, 105794043-105794044, 105794055-105794058, 105794081-105794084, 105794393-105794429, 105794451, 105794476-105794478, 105794482-105794484, 105794516-105794525, 105795112, 105795117, 105795124-105795131, 105795255-105795260, 105795321, 105796839, 105796842
95SHOC2100.9994282447112611749112771473
96BAG3100.9988425925925921728121436793-121436794
97FGFR2100.9991879821356122463123324985-123324986
98HTRA1100.99029799029799141443124221198-124221200, 124221203, 124221226, 124221255-124221258, 124221342, 124221358-124221361
99ACADSB100.9984603541185521299124810701-124810702
100HRAS110.9771929824561413570532674, 534239-534250
101TALDO1110.90335305719921981014747482-747566, 747569, 755940, 755996, 758979-758980, 763370, 763405-763409, 763422-763423
102CTSD110.99112187247781112391785029-1785030, 1785049-1785051, 1785084-1785089
103TNNI2110.9945355191256835491861773-1861775
104TNNT3110.91891891891892637771955050-1955054, 1955190-1955201, 1955668, 1955675, 1955792, 1956106-1956109, 1958230-1958233, 1959668-1959681, 1959700-1959720
105IGF2110.590717299578062917112154219-2154263, 2154277-2154323, 2154334-2154347, 2154350, 2154367-2154393, 2154405-2154424, 2154431, 2154847-2154868, 2154879-2154881, 2156662-2156688, 2161382-2161387, 2161399, 2161414, 2161418, 2161432-2161480, 2161484-2161488, 2161506-2161526
106TH110.8082539682539730215752185487-2185518, 2185536-2185571, 2186474-2186476, 2186505-2186542, 2186590-2186595, 2186959, 2186962-2186967, 2187710-2187729, 2187739, 2187742, 2187753-2187779, 2187886-2187888, 2187917-2187937, 2187942, 2187959-2187990, 2188143-2188202, 2188260, 2188688, 2189117, 2189381, 2189747, 2191946-2191954
107KCNQ1110.912358444116217820312466329-2466353, 2466391-2466397, 2466420, 2466459-2466504, 2466511-2466538, 2466564-2466568, 2466592-2466605, 2466611-2466618, 2466638-2466650, 2466669, 2466673-2466702
108CDKN1C110.759200841219772299512905961-2905976, 2905997, 2906005, 2906031-2906036, 2906048-2906064, 2906067, 2906087-2906123, 2906144-2906255, 2906333, 2906340-2906341, 2906373-2906399, 2906472-2906478, 2906507
109SMPD1110.993670886075951218966411931-6411941, 6413092
110SBF2110.9771171171171212755509803113, 9803175, 9803185, 9809188, 9829559, 9871716, 9983509-9983539, 9983551-9983552, 9983568-9983579, 9983613, 9985320-9985354, 9989888-9989898, 9989934-9989954, 10064481, 10064491-10064492, 10315587-10315591
111KCNJ11110.999147485080991117317409069
112ABCC8110.999789296249471474617498295
113LDHA110.8068068068068119399918418409-18418451, 18422384-18422428, 18422485-18422514, 18422523-18422528, 18425305, 18425312-18425317, 18425320-18425321, 18426999, 18427052, 18427085-18427119, 18428754-18428776
114ANO5110.999270605397522274222249046, 22301246
115FANCF110.9645112522646844-22646846, 22646893-22646897, 22646905-22646907, 22646984, 22647210, 22647274-22647305
116RAG2110.86174242424242219158436614161-36614188, 36614258, 36614263-36614277, 36614325-36614349, 36614512, 36614538, 36614595-36614613, 36614671-36614708, 36614771, 36614812, 36614928-36614940, 36614990-36615003, 36615041-36615047, 36615137-36615143, 36615284-36615330, 36615651
117EXT2110.999536393138621215744228388
118SLC39A13110.999103942652331111647435982
119RAPSN110.995964487489915123947462750-47462753, 47463209
120NDUFS3110.979874213836481679547600646-47600648, 47600652-47600657, 47600821-47600825, 47600865-47600866
121SERPING1110.9873586161011319150357365765-57365783
122GIF110.996012759170655125459599197-59599201
123TMEM216110.871212121212123426461165246, 61165331-61165363
124BSCL2110.999280057595391138962469966
125SLC22A12110.91636582430806139166264359089, 64359099-64359101, 64359104, 64359116, 64359155-64359176, 64359290-64359318, 64359355-64359360, 64359363-64359382, 64359397-64359398, 64360334, 64361004-64361019, 64361022-64361023, 64361115, 64361153, 64361161, 64361171, 64361202-64361217, 64367165-64367171, 64367266-64367272, 64367276
126PYGM110.9905100830367724252964527146-64527165, 64527200-64527203
127RNASEH2C110.98585858585859749565488191-65488197
128CST6110.99333333333333345065780334-65780336
129BBS1110.999438832772171178266278152
130SPTBN2110.99986058831731717366472630
131AIP110.7573011077542824199367257509-67257552, 67257626-67257670, 67257787-67257792, 67257796, 67257798-67257843, 67257868-67257880, 67257895-67257928, 67258259-67258266, 67258280-67258281, 67258295-67258298, 67258311-67258317, 67258366-67258396
132LRP5110.9867986798679964484868080183-68080237, 68080263-68080266, 68080270, 68131258, 68171060-68171062
133CPT1A110.996554694229118232268552359-68552360, 68552380-68552382, 68552386-68552388
134IGHMBP2110.96646545942321100298268671421-68671445, 68671464-68671501, 68673704-68673706, 68678908-68678910, 68682419, 68682453-68682482
135MYO7A110.97157039711191189664876888595-76888596, 76888625, 76888677-76888689, 76890091, 76890135, 76890144-76890170, 76890793-76890860, 76890869, 76890994, 76891516-76891527, 76892520-76892523, 76893008, 76893025, 76893040, 76893164-76893200, 76893636-76893642, 76894113-76894116, 76903287-76903293
136ALG8110.9911448450347914158177817877, 77832145-77832146, 77832154-77832164
137FZD4110.995662949194557161486666037-86666043
138TYR110.996226415094346159088924384-88924388, 88961061
139TRPC6110.99177396280401232796101362387-101362391, 101454165-101454181, 101454184
140DYNC2H1110.9779065276168428612945102985988-102986024, 102988443, 102991201, 102991295-102991310, 102991475-102991508, 102991521-102991531, 102993642, 103004287, 103004312, 103006343-103006346, 103006569-103006597, 103018510-103018531, 103018565-103018589, 103019248, 103019315-103019317, 103024052, 103024131, 103027234, 103029516, 103043815-103043816, 103043850, 103043869-103043874, 103043963, 103048525, 103057048, 103070846, 103080605-103080648, 103082558, 103082590, 103090710-103090731, 103090747-103090757, 103093694, 103114436-103114437
141ATM110.923999563842556979171108114757, 108115677, 108124585-108124602, 108124705, 108138000-108138033, 108139137-108139138, 108139293-108139295, 108139300, 108141791-108141805, 108141839, 108142008-108142032, 108142064-108142133, 108143278-108143289, 108143479-108143481, 108143499-108143501, 108143504-108143544, 108143554-108143559, 108150242-108150243, 108150250-108150257, 108150315-108150316, 108151764-108151765, 108151776-108151782, 108153449-108153450, 108153460-108153461, 108153559-108153574, 108160495-108160498, 108163475-108163479, 108164150-108164155, 108168054-108168066, 108170441-108170525, 108170538, 108170574-108170576, 108170586, 108170612, 108172375-108172388, 108172405-108172410, 108172416-108172424, 108172430-108172432, 108172452-108172458, 108172475, 108172479, 108172482-108172498, 108173651-108173653, 108173659, 108173662-108173664, 108173704, 108175402-108175403, 108175419, 108175481-108175492, 108178635, 108178654, 108180906-108180929, 108180937-108180974, 108181007-108181009, 108186744, 108186779, 108186808, 108188100-108188101, 108188144-108188236, 108190758, 108196073-108196078, 108196212, 108216574, 108216607, 108216635, 108218028-108218062, 108224599-108224605, 108236168
142RDX110.98287671232877301752110104100, 110104105, 110108265-110108292
143DLAT110.9994855967078211944111896324
144CD3G110.9690346083788717549118220579-118220595
145HMBS110.9990791896869211086118960975
146TECTA110.939829853054913896465120980095, 120983781-120983824, 120983842-120983874, 120983879, 120983901-120983911, 120983916-120983918, 120984262-120984279, 120984305, 120984312, 120984323-120984356, 120984368, 120984376, 120984388-120984389, 120989015-120989020, 120989117, 120989146-120989149, 120989152-120989154, 120989179-120989222, 120989273, 120989316-120989326, 120989334-120989335, 120989346-120989347, 120989400-120989406, 120989409-120989410, 121028585, 121030925-121030927, 121032943-121032958, 121036058-121036092, 121037287-121037305, 121037348-121037364, 121037381-121037384, 121037451-121037475, 121038833-121038841, 121038904-121038911, 121039478-121039483, 121039528, 121039541, 121039600-121039606, 121039614-121039616
147SC5DL110.998888888888891900121175197
148HYLS1110.998888888888891900125769591
149WNK1120.98620689655172181305977053, 977530, 977943-977949, 978033, 978090, 978167-978173
150WNK1120.909357952161146487149862732-863000, 863035-863300, 863324-863329, 863337, 863347, 863357-863395, 863417, 863449-863450, 863460, 863466-863486, 936277, 936320-936323, 936370-936376, 936409-936410, 936413-936426, 1006733-1006745
151CACNA1C120.997104099984761965612763040, 2774787, 2794934-2794940, 2795364-2795370, 2800348-2800349, 2800354
152VWF120.9533285951196439484426058181-6058185, 6058294-6058298, 6058308, 6058313, 6058321, 6058332-6058369, 6058995-6059049, 6103042-6103046, 6103086-6103092, 6103135-6103139, 6103166, 6103359-6103362, 6103368-6103369, 6122647-6122650, 6122747, 6125328-6125375, 6127640, 6127865-6127879, 6128128-6128134, 6128170, 6128195, 6128257-6128263, 6128297-6128303, 6128351-6128376, 6128476-6128508, 6128557, 6128630-6128656, 6128749, 6128783-6128798, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6219555, 6219559
153TNFRSF1A120.95467836257316213686438582-6438621, 6450942-6450947, 6450965-6450980
154SCNN1A120.9149519890260618621876457270-6457275, 6457358, 6457361-6457369, 6457419, 6457897-6457901, 6457929-6457947, 6458124, 6458330-6458387, 6463707-6463713, 6464557-6464583, 6464586, 6465005-6465006, 6472665-6472703, 6472813, 6472829, 6472833-6472840
155ATN1120.99916036943745335737045892-7045894
156GYS2120.9924242424242416211221712601-21712615, 21716239
157ABCC9120.9890322580645251465021958988-21958992, 21960304, 21962814, 22068662-22068704, 22078918
158DNM1L120.997286295793766221132866245-32866250
159PKP2120.997215592680997251432955455-32955461
160KIF21A120.9959887685519520498639711880-39711883, 39713784, 39751086-39751093, 39751980, 39752074, 39752123-39752127
161LRRK2120.98536392405063111758440645108-40645120, 40646739, 40646744-40646748, 40646752, 40646758, 40653296-40653318, 40668439, 40681197-40681210, 40681266-40681275, 40681307, 40687379-40687381, 40687465, 40689315-40689349, 40692286, 40745427
162VDR120.996884735202494128448258903-48258906
163MLL2120.9999398097989611661449427652
164TUBA1A120.927631578947373345649522235-49522267
165KRT81120.972990777338641151852684020-52684053, 52684899-52684905
166KRT86120.9664613278576349146152696045-52696051, 52696893-52696934
167KRT6B120.9917404129793514169552845598-52845604, 52845798-52845804
168KRT6C120.93156342182891116169552864916-52864922, 52864930-52864955, 52865900-52865928, 52867091-52867129, 52867257-52867263, 52867375, 52867457-52867463
169KRT6A120.9917404129793514169552886553-52886559, 52886908-52886914
170KRT5120.99605188945297177352908756-52908758, 52908926, 52912906, 52912909, 52913668
171AAAS120.9823278488726429164153715136-53715164
172SUOX120.73748473748474430163856396382-56396402, 56397402-56397428, 56397465, 56397511, 56397516-56397520, 56397588-56397616, 56397673, 56397678, 56397717-56397726, 56397729-56397731, 56397750, 56397758-56397787, 56397793, 56397809, 56397813-56397816, 56397820-56397821, 56397846-56397876, 56397885-56397888, 56397891-56397913, 56397941, 56397955, 56397972-56397985, 56397995-56397996, 56398021, 56398024-56398025, 56398066-56398082, 56398125-56398161, 56398188, 56398246-56398283, 56398307, 56398439-56398456, 56398461, 56398464, 56398474, 56398487, 56398559-56398561, 56398639-56398646, 56398664-56398692, 56398741-56398773, 56398788-56398811
173RPS26120.99712643678161134856436347
174TSFM120.99795501022495297858176590-58176591
175LEMD3120.9857456140350939273665563584-65563608, 65564254-65564267
176CEP290120.9908602150537668744088457794, 88472944-88472961, 88472964, 88474102-88474148, 88519064
177HAL120.9949341438703110197496380907-96380916
178TMPO120.9904076738609120208598909885-98909904
179SLC25A3120.74104683195592282108998987757-98987794, 98987813-98987911, 98989235-98989297, 98991720-98991737, 98991787-98991796, 98992312-98992334, 98992360-98992363, 98992367-98992368, 98992404-98992405, 98992433-98992453, 98995027-98995028
180SLC17A8120.9971751412429451770100751170-100751174
181GNPTAB120.9994696367011423771102224362, 102224436
182IGF1120.9761904761904814588102874146-102874159
183PAH120.98749080206034171359103234279-103234293, 103288690-103288691
184UNG120.86836518046709124942109539732, 109547634-109547635, 109547638-109547643, 109547659-109547773
185TRPV4120.909021406727832382616110230185, 110230190, 110230550-110230569, 110230602, 110231376, 110231405, 110231760-110231773, 110231778, 110231793, 110232238, 110234361-110234365, 110234375-110234389, 110234395, 110234410, 110234414-110234426, 110234488, 110236424-110236425, 110236470-110236517, 110236537-110236614, 110236686-110236696, 110236699-110236707, 110238481, 110238484-110238493, 110240838
186ATP2A2120.9996804090763813129110719653
187MYL2120.9720558882235514501111348947-111348960
188ATXN2120.7417554540842210183942111891498, 111908417-111908423, 111908465, 111908471, 111908475, 111908480, 111908540-111908542, 111923558, 111923616-111923623, 111924621-111924622, 111926306, 111926324, 111926385-111926392, 111926534, 111948332, 111953962-111953965, 111956121-111956141, 111957683-111957823, 111957851-111957876, 111958688-111958690, 111958716-111958777, 112036588-112037030, 112037039-112037318
189SDS120.9827760891590717987113831809, 113835044, 113835135-113835141, 113836326, 113836372, 113836579, 113836584-113836588
190TBX5120.98137443802184291557114793562, 114793568, 114803993, 114804081-114804106
191ACADS120.9991928974979811239121176679
192HNF1A120.9978902953586541896121434185-121434188
193ATP6V0A2120.9988331388564832571124228795, 124229429, 124235677
194PUS1120.9984423676012521284132414268, 132414272
195GJB2130.99265785609398568120763428-20763432
196SGCG130.99543378995434487623808806, 23869554-23869556
197SACS130.99366812227074871374023904819, 23906963, 23907683-23907695, 23908185-23908194, 23911829-23911833, 23911836-23911838, 23949258-23949261, 23949267-23949294, 23949308, 23949370-23949375, 23949378-23949389, 23949395-23949396, 23949402
198B3GALTL130.9645958583834353149731774253-31774261, 31774268, 31774274, 31774282-31774285, 31848646-31848649, 31850873, 31850879, 31858788-31858795, 31858811, 31858845, 31858848-31858850, 31860865-31860867, 31860874-31860875, 31860898-31860907, 31860947-31860950
199BRCA2130.988983133469831131025732911442-32911443, 32911941, 32929075, 32929078, 32929157-32929160, 32929165-32929167, 32929174-32929175, 32929195, 32929199, 32929203-32929205, 32929336-32929340, 32929358, 32929387-32929410, 32930573, 32930612-32930613, 32930689-32930721, 32930732-32930734, 32930740-32930742, 32932025-32932039, 32953508, 32953589, 32953629, 32954002, 32954012, 32954023, 32954269
200FREM2130.999053627760259951039261579, 39261582, 39261793, 39261939, 39261951-39261954, 39262067
201RB1130.9906709723717326278748878127-48878130, 48878133, 48878170-48878176, 48881475-48881483, 49027243-49027247
202ATP7B130.9927239654388432439852515235, 52515244, 52518278-52518293, 52518350, 52518357, 52523808, 52523846-52523849, 52523884, 52524286, 52524446, 52548242, 52548895-52548897
203EDNRB130.998495109104592132978472368, 78472450
204SLITRK1130.9913916786226718209184455255-84455261, 84455609-84455619
205GPC6130.9904076738609116166893879757-93879772
206ZIC2130.95497185741088721599100634394-100634411, 100634415, 100634419, 100634509, 100634546, 100635008-100635010, 100637650, 100637714, 100637738, 100637744, 100637822-100637864
207PCCA130.98994055784179222187100764100-100764103, 100764110-100764115, 100764304-100764306, 101101506-101101512, 101101548, 101101551
208ERCC5130.99598962019344174239103514549-103514565
209COL4A1130.987624750499625010110830444, 110853805-110853820, 110857724-110857753, 110864265-110864266, 110959305-110959317
210F7130.464419475655437151335113760156-113760219, 113765004-113765164, 113768066-113768072, 113768242, 113768255-113768258, 113768263-113768274, 113769974-113770114, 113771082, 113771183, 113771803, 113771820, 113771826-113771833, 113771867-113771869, 113771905-113771908, 113772736, 113772763-113772764, 113772769-113772845, 113772869-113772896, 113772905-113772933, 113772963-113772984, 113772991, 113773011, 113773014, 113773056-113773097, 113773131-113773170, 113773188, 113773232-113773240, 113773243-113773244, 113773271-113773320
211F10130.554192229038856541467113777180-113777239, 113783910, 113793780, 113795285, 113795319, 113798172-113798245, 113798262-113798283, 113798317-113798325, 113798331-113798384, 113798398-113798409, 113801754-113801756, 113801794-113801810, 113803242-113803254, 113803294-113803311, 113803323-113803349, 113803369-113803425, 113803434, 113803446, 113803469-113803487, 113803519-113803591, 113803599-113803764, 113803808-113803831
212GRK1130.97163120567376481692114321801-114321803, 114321943-114321947, 114321988-114321991, 114322065-114322067, 114322077, 114322147-114322158, 114322162, 114325948-114325955, 114325971, 114426088, 114426091-114426099
213RPGRIP1140.95130795130795188386121756143-21756149, 21762836-21762849, 21762893-21762968, 21769193, 21769311-21769363, 21770653-21770671, 21770730, 21770743, 21771494-21771497, 21771523-21771525, 21771623, 21775951-21775958
214PABPN1140.94136807817595492123790681-23790683, 23790689-23790698, 23790788, 23790861-23790884, 23790929-23790941, 23790947, 23790951, 23791005
215MYH6140.9970790378006917582023855185-23855191, 23863311, 23869543-23869545, 23869918-23869921, 23871810, 23871977
216NRL140.924369747899165471424550543, 24550550-24550553, 24550594-24550597, 24550641-24550670, 24551814-24551828
217FOXG1140.78163265306122321147029236620-29236725, 29236731-29236944, 29236954
218CFL2140.9940119760479350135183744-35183746
219NKX2-1140.999170812603651120636986668
220FANCM140.9983731901740710614745644320, 45644841, 45645374-45645381
221MGAT2140.8735119047619170134450088022, 50088044-50088079, 50088121, 50088133-50088141, 50088148, 50088157, 50088323-50088353, 50088402, 50088407-50088418, 50088572, 50088605, 50088808, 50088852, 50088894, 50089000-50089033, 50089177-50089192, 50089235-50089256
222C14orf104140.93476531424025164251450092380, 50100551-50100552, 50100597, 50100726-50100727, 50100779, 50100785-50100786, 50100795-50100797, 50100802-50100819, 50100843-50100857, 50100940, 50100966-50100995, 50101054-50101064, 50101083, 50101089, 50101113-50101143, 50101156, 50101264-50101266, 50101269, 50101353, 50101359, 50101362-50101363, 50101370, 50101374, 50101377, 50101392-50101398, 50101546-50101564, 50101696, 50101699, 50101703-50101705, 50101717
223L2HGDH140.997844827586213139250713969-50713971
224GCH1140.924302788844625775355312514-55312564, 55313844-55313846, 55326451, 55369193-55369194
225SIX6140.99865047233468174160976178
226SYNE2140.999855240301132072464540781, 64612939, 64689998
227ZFYVE26140.9944881889763842762068233005, 68233084-68233086, 68241739-68241771, 68242690-68242693, 68265222
228PSEN1140.9836182336182323140473678549-73678550, 73678609-73678629
229EIF2B2140.9886363636363612105675471592-75471603
230VIPAR140.996626180836715148277894761, 77900207-77900210
231GALC140.9572400388726988205888406272-88406286, 88407875, 88411907-88411922, 88414076-88414081, 88416229-88416243, 88416271, 88429781, 88434772, 88459368-88459379, 88459386-88459387, 88459429-88459431, 88459490-88459504
232AMN140.471365638766527201362103389032, 103389040, 103390048-103390053, 103390060-103390094, 103390110, 103390126-103390130, 103390133, 103390137-103390166, 103390272-103390303, 103394763-103394824, 103394833, 103395108, 103395125, 103395171, 103395175-103395183, 103395186, 103395190-103395201, 103395209-103395227, 103395281-103395306, 103395458-103395467, 103395470, 103395473, 103395491-103395529, 103395547, 103395563-103395588, 103395800-103395821, 103395992-103395997, 103396031-103396032, 103396059, 103396286-103396343, 103396352-103396362, 103396370-103396403, 103396413-103396423, 103396502-103396664, 103396746-103396830, 103396916-103396917, 103396920, 103396954
233INF2140.92642763750105173754-105173786, 105173863-105173874, 105173909-105174124, 105174181-105174195
234NIPA1150.796969696969720199023048978-23048987, 23049002-23049015, 23049080-23049095, 23049271, 23049294, 23086234-23086258, 23086278-23086411
235SNRPN150.973720608575381972325222176, 25222954-25222971
236CHST14150.9628647214854142113140763456, 40763467-40763498, 40763521-40763524, 40763530, 40763569-40763572
237STRC150.999436936936943532843910867-43910869
238SPG11150.98486088379705111733244867214-44867215, 44876469-44876470, 44876554-44876568, 44876573, 44876668-44876676, 44877862-44877863, 44877916, 44877931-44877955, 44877964-44878012, 44881475, 44884602, 44903110, 44943710, 44943719
239GATM150.998427672955972127245658298-45658299
240SLC12A1150.9727272727272790330048577382, 48584005, 48591337-48591362, 48591372-48591408, 48593529-48593536, 48594962, 48595004-48595019
241FBN1150.999651810584963861648805774-48805775, 48808456
242CEP152150.999798590130921496549073464
243RAB27A150.9984984984985166655522666
244CLN6150.911324786324798393668521840-68521922
245HEXA150.9855345911949723159072668142-72668149, 72668153, 72668160, 72668209-72668215, 72668273, 72668309-72668313
246BBS4150.999358974358971156073016942
247HCN4150.998892580287934361273660364-73660367
248ETFA150.992015968063878100276578762, 76580217-76580223
249PSTPIP1150.76019184652278300125177310523-77310525, 77310528-77310532, 77324700-77324704, 77325259-77325265, 77327850-77327904, 77328156-77328229, 77328249-77328276, 77329386-77329504, 77329514-77329517
250RPS17150.99754901960784140882823390
251RPS17150.99754901960784140883207733
252FANCI150.9969902182091812398789804838-89804849
253POLG150.99919354838713372089876828-89876830
254MESP2150.9849246231155818119490319869, 90319873-90319876, 90320081-90320085, 90320088, 90320146, 90320149, 90320161-90320163, 90320173, 90320357
255BLM150.95580629995299188425491303419, 91304224, 91312753, 91312788, 91337400, 91337420-91337443, 91337465, 91337535, 91337541-91337550, 91337558, 91341426, 91341429, 91341468, 91341483, 91341528-91341566, 91346809, 91346865-91346913, 91346944-91346946, 91347402-91347434, 91347540, 91347546-91347561
256VPS33B150.9913700107874916185491542263-91542266, 91545355-91545357, 91548933-91548934, 91550700-91550701, 91550715-91550716, 91550720-91550722
257IGF1R150.987573099415251410499472810, 99472880-99472884, 99473510-99473534, 99478086-99478092, 99486167, 99500577-99500587, 99500668
258HBZ160.56643356643357186429203909-203910, 203956-203967, 203981-204095, 204279-204331, 204354, 204370, 204373-204374
259HBM160.995305164319252426216413, 216451
260HBA2160.9533799533799520429222916-222929, 222971-222973, 223250, 223276, 223299
261GNPTG160.9912854030501189181401967-1401974
262CLCN7160.962779156327549024181497021-1497023, 1500649-1500661, 1501687-1501693, 1524865, 1524868-1524891, 1524908-1524914, 1524941-1524975
263GFER160.88187702265372736182034230-2034246, 2034287-2034288, 2034316-2034328, 2034355-2034394, 2034475
264TSC2160.8408923303834886354242110777-2110778, 2121797, 2121865, 2121872, 2121881, 2121927, 2122330, 2124206-2124209, 2124286, 2124360-2124361, 2126159, 2127697-2127710, 2127713-2127716, 2129083, 2129164-2129180, 2129335, 2129381, 2131674-2131706, 2131755, 2132455-2132466, 2133696-2133766, 2133808-2133817, 2134232-2134259, 2134274-2134319, 2134333-2134335, 2134347-2134416, 2134422-2134425, 2134441-2134447, 2134466-2134467, 2134513-2134543, 2134581-2134627, 2134648-2134655, 2134716, 2134957, 2134978, 2134981-2135027, 2135231-2135281, 2135312-2135323, 2136197-2136245, 2136257-2136294, 2136319-2136368, 2136733-2136747, 2136754-2136784, 2136832-2136846, 2136869-2136872, 2137892, 2138055, 2138120-2138124, 2138127-2138131, 2138290-2138326, 2138490, 2138493, 2138527, 2138530, 2138535-2138537, 2138547-2138611
265PKD1160.242642503097899779129122139745-2139750, 2139756-2139790, 2139810-2139835, 2139846, 2139858-2139866, 2139877-2139878, 2139886-2139969, 2139975-2140006, 2140023-2140072, 2140103, 2140130, 2140147-2140148, 2140159, 2140189-2140195, 2140318-2140320, 2140333, 2140371-2140376, 2140389-2140400, 2140404-2140411, 2140435, 2140439-2140440, 2140449, 2140466-2140490, 2140503-2140536, 2140555-2140591, 2140675-2140704, 2140737, 2140751-2140809, 2140885-2141020, 2141027-2141175, 2141424-2141480, 2141491-2141493, 2141503-2141514, 2141519, 2141525-2141527, 2141530-2141598, 2141784, 2141797-2141798, 2141865-2141891, 2142048-2142068, 2142107-2142128, 2142174, 2142558-2142564, 2142568-2142570, 2143064-2143065, 2143590-2143593, 2143697, 2143702, 2143956, 2147149-2147230, 2147236-2147242, 2147326-2147330, 2147345, 2147368, 2147371-2147373, 2147409, 2147443-2147444, 2147478-2147504, 2147731-2147759, 2147767-2147781, 2147869-2147982, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2158855, 2158863-2159844, 2159876, 2159887-2160088, 2160095-2160191, 2160211-2160376, 2160400-2160569, 2160605-2160651, 2160658-2160784, 2160790-2160881, 2160904-2160981, 2161011-2161087, 2161100-2161191, 2161197-2161207, 2161218-2161420, 2161435-2161698, 2161706-2161780, 2161798, 2161801-2161866, 2161871, 2162341-2162392, 2162399-2162470, 2162810, 2162819-2162887, 2162911-2162964, 2163162-2163180, 2163205-2163273, 2163293, 2164214-2164241, 2164271, 2164280-2164308, 2164331-2164355, 2164377-2164420, 2164433, 2164437-2164446, 2164476-2164499, 2164512-2164537, 2164543-2164553, 2164673-2164676, 2164679-2164723, 2164748-2164847, 2164879-2164885, 2164889-2164900, 2164906, 2165388-2165429, 2165498, 2165555-2165558, 2165561-2165562, 2165566, 2165579-2165616, 2165993-2166022, 2166530-2166612, 2166618-2166628, 2166835-2166928, 2166953, 2166978-2167013, 2167038, 2167044, 2167519-2167521, 2167526, 2167589-2167636, 2167658-2167673, 2167792-2167815, 2167829-2167845, 2167851-2167883, 2167889-2168007, 2168021-2168121, 2168127-2168170, 2168183, 2168192-2168237, 2168283-2168368, 2168384-2168424, 2168430, 2168703-2168717, 2168728-2168807, 2169115-2169156, 2169308-2169327, 2185477-2185690
266ABCA3160.99941348973607351152369649-2369651
267MEFV160.99744245524297623463293888, 3297073, 3299513, 3304267-3304268, 3306343
268CREBBP160.9833537999727112273293778142, 3778439-3778453, 3778636, 3778894-3778895, 3779006, 3779013, 3779054-3779057, 3779258, 3820853, 3828708, 3900335, 3900400, 3900503, 3900600-3900620, 3900682-3900690, 3900783-3900787, 3900882, 3900992, 3929833-3929855, 3929869-3929883, 3929902-3929917
269GLIS2160.6133333333333360915754384852-4384853, 4384863, 4384868, 4384884, 4384926-4384973, 4385063-4385081, 4385085, 4385129-4385145, 4385363, 4385368-4385374, 4386726-4386758, 4386804, 4386807, 4386814-4386816, 4386863-4386869, 4386873, 4386884, 4386911-4386929, 4386939, 4386963-4387036, 4387068-4387169, 4387184-4387221, 4387256-4387299, 4387310-4387314, 4387330-4387440, 4387452-4387521
270ALG1160.857347670250919913955129749-5129774, 5130958-5131009, 5131020-5131057, 5132636, 5134751-5134773, 5134813-5134841, 5134853-5134882
271ABCC6160.91710992907801374451216244567, 16253359-16253364, 16253429-16253431, 16255348-16255360, 16255420-16255421, 16256950-16256954, 16256958-16256959, 16256990-16257012, 16259511-16259546, 16259577-16259584, 16259622-16259646, 16259755-16259790, 16263520, 16263585-16263587, 16263600-16263617, 16267141-16267221, 16269768-16269779, 16269812-16269819, 16269823-16269839, 16271329, 16271347-16271350, 16271357, 16271445-16271483, 16272682-16272689, 16276728, 16313411-16313415, 16313792, 16315599-16315612
272OTOA160.997953216374277342021747694-21747700
273COG7160.996108949416349231323436128-23436135, 23436142
274PALB2160.99831508003376356123640525-23640530
275CLN3160.933181473044888131728497699-28497707, 28498983-28498987, 28499032-28499042, 28499982-28499983, 28500629-28500636, 28500671-28500707, 28502824-28502835, 28502857, 28502877, 28503047-28503048
276ATP2A1160.9946773120425816300628913636-28913651
277FUS160.994307400379519158131191542-31191548, 31195308, 31195680
278PHKB160.9893357708714235328247545661, 47549491-47549496, 47581344-47581345, 47581414-47581420, 47581425-47581428, 47703150-47703164
279CYLD160.998951781970653286250810164-50810166
280SALL1160.998742138364785397551175652, 51175655-51175658
281RPGRIP1L160.9959473150962516394853690415, 53692790, 53698891, 53706796-53706798, 53708958-53708959, 53721877, 53730075, 53730143, 53730150-53730151, 53730164, 53734599, 53734618
282BBS2160.999538319482921216656536264
283SLC12A3160.9954736501778214309356921885-56921888, 56921891-56921893, 56921936-56921942
284TK2160.8506493506493513892466582903-66582912, 66583851-66583854, 66583880-66583919, 66583933-66583936, 66583946-66583963, 66583972-66583975, 66583987-66584029, 66584049, 66584056-66584057, 66584066, 66584077-66584079, 66584083-66584090
285HSD11B2160.9195402298850698121867465168-67465175, 67465177-67465181, 67465184-67465194, 67465199-67465272
286LCAT160.9879062736205616132367973952, 67974036, 67976970-67976983
287CDH3160.94056224899598148249068679312-68679313, 68679543-68679591, 68712465-68712478, 68716328, 68718643, 68718673-68718692, 68719157-68719181, 68719234-68719245, 68721490-68721492, 68721495-68721502, 68721586-68721595, 68721622, 68721637, 68725718
288CDH1160.95847489618724110264968847265, 68847348, 68849527, 68849531-68849535, 68849542, 68853195, 68853248, 68853261, 68853266, 68853279, 68856068-68856070, 68856094-68856119, 68857312, 68857391-68857395, 68857417-68857477
289CIRH1A160.56525958272683896206169167364, 69167396-69167424, 69167443-69167470, 69167491-69167516, 69167521, 69170599-69170604, 69170646-69170671, 69170713-69170778, 69171704-69171745, 69173742-69173753, 69173775-69173817, 69177096, 69177107-69177138, 69177144-69177292, 69184455-69184466, 69184491-69184520, 69184558-69184593, 69184611, 69184749-69184750, 69184762-69184771, 69187487-69187517, 69187541-69187578, 69188296-69188343, 69189842-69189865, 69189875-69189896, 69190989-69190999, 69191089-69191104, 69194362-69194365, 69196986-69196988, 69196992-69196994, 69197002, 69197012-69197038, 69199292-69199306, 69199363-69199365, 69200988-69201000, 69201013-69201032, 69201041-69201043, 69201045-69201046, 69201081-69201088, 69202747-69202757, 69202784-69202785, 69202798-69202835
290COG8160.9940184883088611183969373229-69373238, 69373414
291HP160.9647829647829643122172092185, 72092221-72092237, 72093013-72093037
292GCSH160.7164750957854414852281129736-81129883
293GAN160.9643255295429264179481348719-81348731, 81348740-81348761, 81348809-81348818, 81348859-81348873, 81388212-81388215
294MLYCD160.50674763832659731148283932750-83932798, 83932804-83932897, 83932910-83932945, 83932959-83933046, 83933058-83933123, 83933135-83933175, 83933202, 83933211-83933241, 83933262-83933274, 83940632-83940656, 83941746-83941753, 83941804, 83941807-83941813, 83941846-83941887, 83945866-83945949, 83948656, 83948709-83948727, 83948749-83948751, 83948758-83948765, 83948770-83948774, 83948777-83948780, 83948802-83948850, 83948922-83948928, 83948941-83948942, 83948974-83948984, 83949030-83949059, 83949071-83949076
295FOXF1160.9868421052631615114086544211-86544216, 86544224-86544232
296FOXC2160.50132802124834751150686600947-86600990, 86601025, 86601070-86601076, 86601089-86601142, 86601170-86601215, 86601224-86601228, 86601246, 86601292-86601313, 86601336-86601359, 86601391-86601453, 86601500-86601520, 86601531-86601575, 86601614-86601644, 86601664-86601673, 86601706-86601732, 86601764-86601765, 86601785-86601816, 86601852-86601919, 86601925-86601984, 86602007-86602040, 86602047-86602064, 86602087-86602156, 86602180-86602194, 86602199, 86602220-86602224, 86602229, 86602238, 86602250-86602260, 86602282-86602295, 86602308-86602310, 86602358-86602368, 86602408-86602411
297JPH3160.9648420115709879224787636759-87636761, 87636811-87636866, 87636889-87636897, 87636935, 87637052, 87637095-87637103
298APRT160.970534069981581654388876120, 88878024-88878029, 88878257-88878264, 88878268
299GALNS160.9821542383683928156988889001, 88889013, 88889016, 88901758-88901759, 88902183, 88909114-88909118, 88923269-88923285
300SPG7160.989112227805726238889574833-89574858
301FANCA160.96771978021978141436889836373-89836412, 89836973, 89836982, 89836987, 89836990-89836993, 89837018-89837034, 89839766, 89842165-89842168, 89842220-89842223, 89877126, 89880940-89880941, 89882288, 89882946, 89882950-89882968, 89882980-89883023
302TUBB3160.9571322985957158135389989823-89989866, 90001699-90001708, 90001762, 90001774-90001775, 90001798
303PAFAH1B1170.9083536090835411312332568692-2568713, 2569310-2569320, 2569373-2569375, 2570286-2570294, 2570318-2570319, 2570385-2570426, 2570450-2570473
304ASPA170.9203821656051759423385001-3385005, 3385056-3385058, 3386866, 3392533-3392539, 3392574-3392621, 3392633-3392636, 3397720-3397721, 3397747-3397751
305CTNS170.977556109725692712033559796-3559799, 3559823, 3559829-3559848, 3559851, 3559880
306PITPNM3170.876581196581236129256358658-6358942, 6358954-6358963, 6360934-6360975, 6361034-6361035, 6459705-6459726
307ACADVL170.7047764227642358119687123304-7123344, 7123441-7123498, 7123516, 7123801-7123826, 7123929-7123931, 7123935-7123951, 7124132-7124138, 7124259-7124301, 7124334-7124335, 7124865-7124868, 7124927-7124961, 7125271, 7125283, 7125290, 7125320, 7125341-7125374, 7125505-7125522, 7125550, 7125573, 7125616, 7126002, 7126038-7126069, 7126525-7126531, 7126976-7127022, 7127036-7127043, 7127158, 7127316, 7127338-7127351, 7127377, 7127465-7127482, 7127524-7127532, 7127541, 7127546-7127550, 7127553, 7127651-7127668, 7127686-7127709, 7127810-7127811, 7127836-7127838, 7127961-7128033, 7128139, 7128142-7128145, 7128167-7128176, 7128183, 7128313, 7128388-7128389
308CHRNB1170.988711819389111715067348466-7348479, 7350837-7350839
309TP53170.99492385786802611827574020, 7574029-7574033
310HES7170.8952802359882716788024955-8024956, 8024964-8024977, 8024987-8024989, 8024999-8025026, 8025092-8025114, 8025214
311MYH8170.9975920192638514581410301903-10301907, 10302113-10302121
312MYH2170.9948506694129830582610438610-10438627, 10446228, 10446476-10446478, 10450847, 10451107-10451113
313SCO1170.99889624724062190610595189
314ELAC2170.82103990326481444248112899022, 12899901-12899906, 12903495-12903496, 12903550-12903571, 12905832-12905838, 12906807-12906808, 12906811-12906815, 12906820-12906831, 12906866-12906867, 12908332-12908358, 12909093, 12909097-12909102, 12909112, 12909285, 12909291-12909296, 12913930-12913938, 12914995-12915042, 12915090-12915099, 12916536-12916538, 12916572, 12916589, 12916592, 12917756-12917757, 12917782-12917813, 12920179-12920186, 12920224-12920227, 12920388-12920438, 12921020-12921025, 12921049-12921126, 12921153-12921178, 12921187, 12921199-12921212, 12921217-12921264
315ATPAF2170.945977011494254787017931563-17931566, 17931569-17931579, 17931601-17931603, 17931645, 17931938-17931943, 17931952-17931973
316MYO15A170.99839516661947171059318024027, 18024033, 18024328-18024331, 18057167, 18058521, 18070955-18070963
317ALDH3A2170.994760969220698152719575189-19575196
318UNC119170.98893499308437872326879362-26879363, 26879368-26879372, 26879415
319NEK8170.9932659932659914207927068992-27069005
320NF1170.9927230046948462852029422328-29422387, 29588751, 29653067
321HNF1B170.9629629629629662167436104550, 36104554-36104556, 36104617, 36104651, 36104709-36104723, 36104743-36104757, 36104811-36104836
322KRT10170.91566951566952148175538975101-38975149, 38975197-38975248, 38975325-38975371
323KRT14170.9570119802677961141939739509-39739515, 39739560, 39741304-39741309, 39742985-39743019, 39743043-39743054
324KRT16170.91983122362869114142239766187-39766202, 39766265-39766281, 39768490-39768496, 39768740-39768753, 39768786-39768820, 39768839-39768863
325KRT17170.9322555812163288129939776911-39776925, 39776994-39776996, 39777010, 39777013, 39780367-39780399, 39780564, 39780608-39780640, 39780761
326STAT5B170.93739424703892148236440369249-40369251, 40370198-40370200, 40370247-40370296, 40370326-40370348, 40371335, 40371730-40371746, 40371826-40371860, 40375466, 40375499, 40384088-40384095, 40384105, 40384113-40384117
327BRCA1170.986914235190174565541219628, 41219631, 41219634-41219642, 41219649-41219650, 41219654, 41222950-41222956, 41223029-41223069, 41226383-41226387, 41226390-41226393, 41231356-41231357, 41245466
328NAGS170.9800623052959532160542082064-42082069, 42082082-42082085, 42082188, 42082194-42082199, 42082228, 42083034, 42083402-42083404, 42083506-42083509, 42083513-42083518
329SLC4A1170.997807017543866273642335071, 42335136-42335140
330GRN170.997194163860835178242430051, 42430057, 42430060-42430061, 42430166
331ITGA2B170.9958333333333313312042453753-42453756, 42461043, 42461930, 42462979-42462984, 42463402
332PLEKHM1170.9936928413749620317143535560-43535576, 43545957-43545959
333MAPT170.9815529815529843233144055741-44055753, 44055776-44055805
334ITGB3170.9826784959864841236745331235-45331259, 45331283-45331298
335COL1A1170.9922639362912434439548276608-48276641
336NOG170.99856938483548169954671841
337RAD51C170.9407603890362567113156772386-56772394, 56772501, 56772525, 56772536, 56772539-56772541, 56772544-56772550, 56787256-56787263, 56787344-56787347, 56798107-56798122, 56798137-56798147, 56798173, 56801424, 56801430-56801433
338TRIM37170.83799654576857469289557060279, 57076742-57076777, 57078993-57078997, 57079001, 57089689-57089771, 57089801-57089802, 57089806, 57094657-57094678, 57105778, 57105814, 57105874-57105903, 57105914-57105936, 57105999-57106018, 57109289, 57109293, 57109312-57109316, 57109325-57109327, 57109342-57109381, 57109387-57109388, 57109401, 57109415-57109424, 57125111, 57125119, 57126633, 57126716-57126724, 57126727-57126731, 57128591-57128595, 57128598-57128611, 57134250, 57134268-57134271, 57134307-57134312, 57134397-57134415, 57138393-57138416, 57141747-57141766, 57153045-57153071, 57157122, 57158491, 57158523-57158558, 57165688-57165689, 57165693, 57165698, 57168686
339BRIP1170.91386666666667323375059760657-59760670, 59760698-59760729, 59760800-59760840, 59760849, 59760861-59760869, 59761011-59761026, 59761052-59761061, 59761281, 59761331-59761394, 59761454, 59761459, 59761493-59761501, 59763295-59763314, 59763378-59763379, 59763415, 59763456-59763458, 59763465, 59763490-59763514, 59857690, 59857694, 59871063, 59871066, 59871070, 59876510-59876515, 59878637-59878646, 59934520-59934562, 59937249, 59938878-59938884
340ACE170.95358326957409182392161554469-61554531, 61554550-61554589, 61554619-61554669, 61555296, 61555456-61555458, 61557823-61557834, 61558537-61558540, 61560522-61560523, 61566031, 61574586-61574590
341SCN4A170.999637089457452551162041874, 62048525
342SOX9170.84117647058824243153070117546, 70117641-70117693, 70117708-70117715, 70117815-70117817, 70117882, 70117891, 70117910-70117935, 70117949-70117957, 70117962, 70119775-70119802, 70119843-70119847, 70119853-70119854, 70119939, 70119971-70119972, 70120013-70120053, 70120065-70120122, 70120225, 70120314, 70120344
343COG1170.96058443764866116294371189380-71189381, 71189420, 71189497-71189498, 71189508, 71189512, 71193408, 71193460-71193461, 71197392, 71197675, 71199252-71199263, 71199278, 71199890, 71199894-71199920, 71201697, 71201714-71201760, 71202348, 71202883-71202896
344DNAI2170.99944994499451181872301432
345TSEN54170.9746995572422540158173512642-73512670, 73512851, 73512932, 73512965-73512968, 73513114-73513118
346ITGB4170.999634302431892546973753499, 73753503
347GALK1170.995759117896525117973754146, 73754327, 73754330, 73761185, 73761202
348UNC13D170.9749465322334282327373827383-73827386, 73832302, 73832335-73832337, 73832693, 73832772-73832777, 73838959, 73839117, 73839124, 73839138-73839145, 73839240-73839265, 73839578-73839600, 73840361-73840367
349ACOX1170.9924357034795815198373974759-73974765, 73975046-73975052, 73975062
350SEPT9170.92390687109597134176175277627-75277630, 75277634-75277635, 75483627-75483633, 75484322-75484330, 75484893-75484914, 75494626-75494709, 75494735-75494740
351FSCN2170.998647734956052147979495742, 79504074
352LPIN2180.994425863991081526912951106-2951118, 2951122, 2951248
353NDUFV2180.98157509119472-9119473, 9119570-9119582
354AFG3L2180.9924812030075218239412377050, 12377065-12377081
355NPC1180.9934844930935625383721124924-21124948
356LAMA3180.99640071985603361000221269658-21269662, 21269723-21269726, 21269798-21269823, 21413869
357DSC3180.9944258639910815269128622594-28622607, 28622619
358DSC2180.69290465631929831270628647985-28647987, 28648014-28648024, 28648108-28648110, 28648158-28648160, 28648163, 28648906-28648909, 28648944-28648951, 28648959-28648960, 28648996, 28649050-28649058, 28650723, 28651571-28651575, 28651582-28651585, 28651667-28651674, 28651677-28651681, 28651733-28651736, 28654676-28654715, 28654738, 28654752-28654754, 28654767, 28654809-28654818, 28654825-28654831, 28659826-28659833, 28659848-28659905, 28660075-28660084, 28660093-28660099, 28660110-28660111, 28660126-28660135, 28660138-28660141, 28660151, 28660175-28660206, 28660224-28660231, 28660306, 28662247-28662248, 28662284-28662293, 28662307, 28662315-28662329, 28662923, 28662937-28662991, 28666539-28666544, 28666567, 28666570-28666575, 28666578-28666587, 28666591, 28666599, 28666604, 28666660-28666698, 28667687-28667725, 28667735-28667737, 28667761-28667772, 28669402-28669406, 28669417, 28669429-28669430, 28669440-28669500, 28669509-28669514, 28669537-28669557, 28670996-28671000, 28671003-28671008, 28671025-28671029, 28671036-28671037, 28671057, 28671062, 28671065, 28671103, 28672080-28672082, 28672108-28672154, 28672170-28672198, 28672224-28672263, 28673522-28673532, 28673571-28673606, 28681866-28681934
359DSG2180.9886803693774238335729100862-29100863, 29101176-29101181, 29110954, 29111193, 29111196-29111200, 29111204-29111207, 29116233-29116235, 29116243, 29116384-29116391, 29118764, 29118885, 29121156, 29122717, 29122720-29122722
360LOXHD1180.999849306811331663644159721
361MYO5B180.9951325040562527554747721137-47721163
362ATP8B1180.9486155484558193375655315821-55315858, 55362436-55362437, 55362510, 55362682, 55362710, 55364861-55364875, 55368271-55368286, 55368305-55368332, 55368447-55368463, 55368524-55368526, 55368545, 55371787-55371822, 55371861, 55371867, 55373790-55373800, 55398966-55398986
363LMAN1180.88910632746249170153357000416, 57005806, 57005816, 57013194-57013204, 57014751-57014753, 57014767-57014769, 57014794-57014803, 57016365, 57016432-57016464, 57020446, 57020458, 57020500-57020523, 57021775-57021787, 57026273-57026304, 57026330-57026331, 57026336-57026338, 57026373-57026393, 57026410, 57026418-57026424, 57026476
364TNFRSF11A180.9573203673689979185159992586-59992604, 59992608-59992635, 60052117, 60052131-60052161
365CTDP1180.92065142065142229288677439951-77440058, 77440070-77440086, 77440114-77440132, 77440158-77440166, 77440199-77440217, 77440249, 77455987-77455995, 77456033-77456039, 77456060-77456070, 77475184-77475212
366ELANE190.54726368159204364804852336, 852346, 852876-852901, 852918-852923, 852943, 852953, 853010, 853015-853032, 853262-853356, 853364-853368, 853374, 853379-853403, 855564-855565, 855581-855604, 855640-855646, 855677-855710, 855728-855780, 855972-855976, 856002-856013, 856048-856054, 856100-856101, 856128-856164
367KISS1R190.256474519632418901197917513-917585, 917594-917599, 917602-917603, 917607-917610, 917613, 917626-917746, 918544-918576, 918586, 918590-918593, 918601-918668, 919507-919553, 919572-919608, 919874-919889, 919947-920009, 920021-920022, 920029, 920035-920061, 920086-920106, 920290-920431, 920441, 920470-920498, 920506-920541, 920555-920558, 920563-920564, 920569-920600, 920619, 920633-920748
368NDUFS7190.9984423676012516421395431
369RAX2190.95675675675676245553771568-3771583, 3771602-3771606, 3771611, 3771616, 3771679
370MAP2K2190.921862011637579412034101062, 4102449, 4123781-4123872
371NDUFA11190.9976525821596214265903659
372TUBB4190.9940074906367813356495624-6495631
373C3190.868189102564165849926693475-6693481, 6693485-6693498, 6697393, 6697396, 6697403-6697406, 6697409-6697411, 6707087-6707089, 6707105-6707263, 6707283-6707284, 6707493-6707494, 6707506, 6707510-6707511, 6707528-6707532, 6707833, 6707853, 6707859, 6709697, 6709710-6709755, 6709771-6709853, 6710664, 6710720-6710721, 6710736-6710737, 6710742-6710746, 6710763-6710782, 6710801-6710805, 6711025, 6711089-6711097, 6711121-6711124, 6711127-6711131, 6711140-6711141, 6712402-6712408, 6712614, 6713260-6713262, 6713284, 6713289-6713303, 6713435-6713445, 6713490-6713517, 6714003-6714093, 6714177-6714225, 6714363-6714406, 6714418, 6714444-6714457
374INSR190.9734875873704511041497150532-7150534, 7152739, 7152775-7152803, 7152810-7152859, 7152872-7152874, 7152910-7152914, 7184486-7184497, 7293862, 7293871-7293875, 7293884
375PNPLA6190.97264056224910939847606919-7606920, 7615184-7615190, 7615223, 7615261-7615294, 7615469, 7615526, 7615907-7615924, 7616278-7616309, 7618848-7618859, 7621597
376STXBP2190.8131313131313133317827704620-7704629, 7705695, 7705789-7705817, 7707095-7707102, 7707111-7707147, 7707176-7707197, 7707323-7707372, 7707398-7707409, 7707652-7707707, 7707891-7707897, 7707922-7707934, 7708051-7708057, 7708096-7708124, 7711155-7711156, 7711159-7711176, 7712048-7712056, 7712630, 7712633, 7712647, 7712658-7712677
377ADAMTS10190.9230072463768125533128654136-8654137, 8654142-8654143, 8654173, 8654176, 8654201-8654249, 8654391-8654423, 8656842-8656850, 8656961, 8660701-8660708, 8660725, 8665898, 8666026-8666028, 8669929-8669934, 8669938-8669941, 8669998-8670021, 8670068, 8670094, 8670123-8670177, 8670217-8670229, 8670550-8670589
378TYK2190.95005611672278178356410469975, 10477214, 10488890-10489052, 10489070-10489082
379DNM2190.9866054343666335261310828934, 10893777-10893783, 10897300-10897301, 10897320, 10922966-10922968, 10923015-10923019, 10941654-10941669
380LDLR190.999612853271391258311216219
381PRKCSH190.9886578449905518158711558341-11558349, 11558512, 11558526, 11558560-11558566
382MAN2B1190.9785902503293865303612768274-12768276, 12768280-12768290, 12768299-12768349
383CACNA1A190.87647919159686929752113318182, 13318187-13318203, 13318209, 13318212-13318213, 13318233-13318445, 13318460-13318461, 13318464-13318467, 13318471-13318475, 13318490-13318730, 13318740-13318761, 13318764-13318768, 13318783-13318819, 13318834-13318857, 13319570, 13319595-13319629, 13319636, 13319654, 13319692-13319697, 13320182-13320191, 13325143-13325147, 13325333, 13397345, 13409361-13409408, 13409452, 13409459, 13409462, 13409473, 13409482, 13409493, 13409509-13409511, 13409543-13409544, 13409550, 13409556, 13409583-13409633, 13409677-13409688, 13409724-13409742, 13409785-13409786, 13409794, 13409850-13409863, 13409887-13409897, 13410027-13410033, 13443718-13443739, 13445205, 13445208, 13445253, 13446671-13446673, 13446679, 13616761, 13616796-13616804, 13616829-13616847, 13616917-13616943, 13616988-13617006, 13617027-13617038
384NOTCH3190.97372954349699183696615276609-15276616, 15281293, 15285052-15285054, 15285059, 15288567-15288577, 15288626-15288632, 15288743-15288745, 15290982, 15290987, 15291842-15291849, 15302830, 15302868-15302901, 15311599-15311600, 15311607-15311708
385CYP4F22190.98433583959925159615648349-15648365, 15648712-15648718, 15661522
386JAK3190.93362962962963224337517940918-17940921, 17940925-17940974, 17940989, 17940992-17941019, 17941324-17941336, 17941342-17941429, 17942123, 17942156, 17942206, 17942209, 17942503, 17945499, 17953159, 17953164-17953196
387SLC5A5190.9870600414078725193217986767-17986790, 18001767
388IL12RB1190.84665661136249305198918177374-18177388, 18177440-18177444, 18179316-18179336, 18180367, 18180373-18180397, 18180413-18180416, 18180425, 18180451, 18182947-18182990, 18183054, 18184343-18184349, 18186559-18186567, 18186575, 18186593-18186608, 18186618, 18186633-18186668, 18187107-18187137, 18188336-18188351, 18188390-18188395, 18188456-18188461, 18191730, 18191740, 18191750, 18191769-18191811, 18197586-18197597
389SLC7A9190.9726775956284240146433324179-33324191, 33333123-33333126, 33334761-33334764, 33334840, 33334850-33334853, 33349449, 33350747-33350754, 33350777-33350778, 33353391-33353393
390CEBPA190.38718662952646660107733792252, 33792325-33792347, 33792485-33792518, 33792538-33792541, 33792572-33792615, 33792643, 33792651-33792653, 33792675-33792676, 33792688-33792734, 33792752-33792770, 33792785-33793058, 33793073-33793085, 33793113, 33793127-33793320
391SCN1B190.959107806691453380735521725-35521728, 35521737-35521764, 35524824
392MAG190.87187666135035241188135786647, 35790457-35790460, 35790473-35790475, 35790488-35790524, 35790539, 35790569-35790611, 35790619-35790622, 35790632-35790652, 35790679-35790710, 35790736-35790749, 35791070-35791089, 35791117-35791155, 35791188, 35791194, 35791204-35791205, 35793411-35793420, 35793480-35793484, 35793510, 35793513, 35793528
393PRODH2190.9702048417132248161136297951-36297978, 36303300-36303301, 36303304-36303317, 36303320-36303321, 36303537, 36303561
394WDR62190.9973753280839912457236595738-36595748, 36595755
395RYR1190.944631871403068371511738931385-38931504, 38954080, 38956803, 38956839, 38959680, 38976665, 38987508-38987541, 38987551, 38998421-38998430, 39003099-39003121, 39034422, 39034495-39034497, 39037085-39037105, 39037129-39037130, 39037158-39037166, 39055599-39055610, 39055652-39055658, 39055697-39056052, 39056073-39056111, 39056144-39056187, 39056206-39056215, 39056231, 39056242, 39056245, 39056256, 39056267-39056271, 39056284-39056348, 39056392, 39075583-39075584, 39075623-39075662, 39075692-39075714
396ACTN4190.95760233918129116273639138427-39138433, 39138464-39138482, 39138497-39138547, 39219933, 39219973, 39219976, 39219979, 39219987, 39219991, 39220023-39220055
397DLL3190.998922994076472185739993586-39993587
398PRX190.9974920200638411438640900865, 40901496-40901499, 40902564, 40902575, 40902581, 40902587, 40904548, 40904602
399TGFB1190.9735720375106631117341837107, 41854241-41854244, 41854330-41854338, 41858870, 41858908, 41858912-41858922, 41858925-41858928
400ATP1A3190.97226753670473102367842470839, 42470893-42470896, 42470991, 42471012-42471036, 42471050, 42471309, 42471317-42471334, 42471365-42471368, 42471445-42471448, 42479833, 42480568-42480578, 42480605-42480619, 42480626, 42489071-42489072, 42489085-42489094, 42489279, 42489321-42489322
401ETHE1190.888888888888898576544011016-44011025, 44012096-44012115, 44012160-44012212, 44012928-44012929
402BCAM190.9819819819819834188745312395, 45312415, 45312418-45312446, 45324059, 45324067-45324068
403APOE190.98532494758911495445412177, 45412264, 45412268-45412269, 45412342-45412346, 45412374-45412377, 45412468
404BLOC1S3190.99343185550082460945682865-45682866, 45682876, 45682969
405SIX5190.999549549549551222046269076
406FKRP190.92809139784946107148847259072, 47259115-47259120, 47259184-47259187, 47259213, 47259216-47259220, 47259253-47259262, 47259318, 47259373-47259379, 47259387-47259397, 47259409, 47259432-47259435, 47259548-47259553, 47259556, 47259633, 47259671-47259672, 47259681-47259709, 47259751-47259756, 47260163-47260173
407DBP190.8660531697341513197849138837-49138845, 49138859, 49138868-49138877, 49138881, 49138905, 49138935-49138951, 49138955-49138958, 49138987-49138988, 49138991-49139001, 49139004, 49139079-49139125, 49139142, 49139157-49139179, 49139182-49139184
408BCAT2190.9457167090754964117949298717-49298720, 49300223, 49300230-49300234, 49300254-49300273, 49300473-49300474, 49303238-49303265, 49303319-49303321, 49303486
409FTL190.967803030303031752849469044-49469046, 49469052, 49469056-49469057, 49469060-49469061, 49469107, 49469115-49469122
410MYH14190.9833087874325102611150728888-50728929, 50733787-50733788, 50735193, 50735209-50735211, 50735239-50735249, 50747508-50747512, 50753008, 50758562, 50764784-50764787, 50764796, 50764799, 50764836, 50764841, 50764853, 50764871, 50764881-50764884, 50766654-50766660, 50770219, 50770225, 50770228, 50794274, 50795560-50795566, 50805014, 50810319, 50812323, 50813020
411KCNC3190.20800351802991801227450823503-50823606, 50823850-50823859, 50823867-50823913, 50823948, 50823954, 50823979-50823981, 50823984-50824011, 50826232-50826272, 50826279-50826481, 50826494-50826506, 50826518-50826654, 50826672-50826722, 50826733-50826741, 50826767-50826815, 50826852-50826860, 50826872-50826876, 50826887-50826923, 50826946-50826947, 50826954-50826955, 50826982-50826992, 50827011-50827075, 50827120-50827147, 50827175-50827223, 50827227-50827229, 50827236-50827243, 50827248-50827250, 50827309-50827314, 50827327-50827330, 50827337-50827338, 50831470-50832339
412KLK4190.898039215686277876551412549, 51412556, 51412562-51412577, 51412604-51412621, 51412627-51412666, 51413985-51413986
413ETFB190.9798270893371821104151850300-51850302, 51857762-51857779
414NLRP12190.87727558066541391318654297307, 54299259-54299265, 54301532-54301577, 54301607-54301634, 54301652, 54301662, 54301665-54301667, 54304500, 54304521-54304528, 54304532-54304533, 54304550, 54304578-54304590, 54304594-54304595, 54304605-54304640, 54307220, 54307225, 54307286-54307325, 54308554, 54308602, 54308673-54308676, 54308683-54308685, 54312844, 54312859-54312916, 54312925-54312971, 54313041-54313043, 54313085-54313097, 54313302, 54313483-54313525, 54313558, 54313592, 54313598-54313602, 54313636-54313642, 54313661-54313663, 54313852, 54314300-54314301, 54314320, 54314385-54314387
415PRKCG190.84957020057307315209454385752, 54385757, 54385763, 54385904-54385905, 54392901-54392903, 54392930-54392949, 54392960, 54392986-54392995, 54392999-54393003, 54393169-54393208, 54393225-54393229, 54393267-54393270, 54401729-54401734, 54401750-54401794, 54401841, 54401845, 54401853-54401882, 54403903-54403928, 54403944-54403951, 54407895, 54409600-54409605, 54409648-54409652, 54409698-54409710, 54409961-54409987, 54409996-54410001, 54410005-54410006, 54410013, 54410034, 54410040-54410042, 54410046-54410047, 54410072-54410075, 54410078-54410094, 54410133-54410149
416PRPF31190.90933333333333136150054625933, 54625937-54625940, 54627158-54627161, 54629970-54629971, 54631512-54631517, 54631525, 54631538, 54631543-54631544, 54631549, 54631552, 54631565, 54631709, 54631750-54631752, 54632435-54632437, 54632489-54632523, 54632552-54632560, 54632651-54632657, 54632679-54632722, 54634752, 54634855-54634863
417TSEN34190.921757770632377393354695216-54695228, 54695239-54695245, 54695286, 54695321, 54695328, 54695358-54695405, 54696094-54696095
418TNNT1190.5044359949302939178955644299-55644328, 55645255-55645295, 55645434-55645524, 55648474, 55648484, 55648520, 55648550-55648556, 55649355-55649372, 55649395-55649442, 55652262, 55652268-55652276, 55652279, 55652617, 55652628-55652646, 55653230-55653264, 55656918, 55657802, 55657810-55657834, 55658049-55658075, 55658376-55658389, 55658494, 55658497, 55658509-55658525
419TNNI3190.881773399014787260955665487-55665497, 55665541, 55665572-55665574, 55666157-55666163, 55666170-55666198, 55667569-55667578, 55667630, 55667669-55667672, 55667685, 55668463, 55668479-55668482
420TPO20.9175588865096423128021426817-1426838, 1426870-1426874, 1480867, 1481017, 1481034, 1481094, 1520655-1520754, 1544387-1544435, 1544452-1544495, 1546237-1546243
421KLF1120.9844054580896724153910183853-10183869, 10183879-10183885
422MATN320.997262149212874146120212323-20212325, 20212334
423APOB20.99780893952673301369221265263-21265267, 21266752-21266754, 21266761-21266770, 21266775-21266783, 21266796-21266798
424POMC20.982587064676621480425384463-25384476
425HADHA20.996945898778367229226426931-26426934, 26437348, 26437368, 26437933
426HADHB20.998596491228072142526496527, 26496530
427OTOF20.806306306306311161599426695392-26695393, 26695400-26695434, 26695445, 26695483-26695509, 26696019-26696020, 26696028-26696030, 26696051-26696060, 26696085-26696108, 26696141-26696142, 26696274-26696275, 26696314-26696332, 26696350-26696355, 26696358-26696389, 26696428-26696435, 26696859-26696937, 26696952-26696978, 26697381-26697466, 26697486-26697515, 26697525-26697542, 26698227, 26698254-26698261, 26698273, 26698328, 26698337-26698350, 26698782-26698857, 26698892-26698906, 26698996-26699072, 26699084-26699185, 26699759-26699911, 26700040-26700156, 26700284-26700326, 26700337-26700368, 26700517-26700607, 26702250-26702252, 26702344, 26702449-26702457, 26702495, 26712596, 26712599-26712600
428XDH20.998000999500258400231598387, 31598392-31598397, 31609309
429SRD5A220.99737532808399276231805879-31805880
430SPAST20.91410048622366159185132288901-32288911, 32289091-32289098, 32289146-32289148, 32289190-32289236, 32312563-32312581, 32312608-32312647, 32362181-32362186, 32372287-32372311
431CYP1B120.88480392156863188163238298112-38298121, 38298200-38298206, 38298249, 38301594-38301596, 38301610, 38301687-38301688, 38301874-38301904, 38301927, 38301937-38301960, 38301963, 38301991, 38302006-38302008, 38302011, 38302042-38302046, 38302049-38302052, 38302193-38302247, 38302332, 38302347-38302348, 38302412-38302445, 38302483
432SOS120.998500749625196400239347527-39347532
433ABCG520.9923312883435615195644041716-44041728, 44049963-44049964
434ABCG820.9579624134520385202244078744, 44078753, 44078793-44078805, 44078923-44078926, 44079520-44079529, 44079572-44079576, 44079739-44079754, 44079899-44079901, 44079991-44080007, 44099138-44099144, 44099180, 44101076-44101082
435LRPPRC20.97323775388292112418544145164-44145178, 44161391, 44170840-44170841, 44170853, 44170991-44170992, 44171019, 44172551, 44174396-44174435, 44175305-44175308, 44201032-44201039, 44202273, 44206965-44206971, 44209403-44209420, 44209445-44209455
436EPCAM20.99365079365079694547606180-47606183, 47607011, 47613747
437MSH220.92406417112299213280547630331, 47630435-47630439, 47630443-47630460, 47630488-47630498, 47635593-47635603, 47635684-47635694, 47637401-47637433, 47637473-47637487, 47639553-47639573, 47639596-47639626, 47639649-47639695, 47641459, 47641523-47641529, 47641557
438MSH620.94832231202547211408348010373-48010376, 48010400-48010507, 48010515-48010574, 48010599-48010632, 48033455-48033459
439LHCGR20.996190476190488210048982759-48982761, 48982764, 48982778-48982781
440NRXN120.9932203389830530442550758485-50758497, 50765427-50765428, 50765679-50765693
441EFEMP120.999325236167341148256103764
442FANCL20.99911347517731112858449095
443DYSF20.9889937106918270636071796989-71796992, 71797802, 71797829, 71797832-71797833, 71801342-71801354, 71801431-71801451, 71801480-71801481, 71838689, 71839875, 71840532, 71847696, 71847700-71847703, 71847707-71847710, 71847726-71847739
444ALMS120.8482885476647518971250473612997, 73613012-73613041, 73613127, 73613139, 73613206, 73613211, 73613288, 73646433, 73675090-73675093, 73675147, 73675418, 73675540-73675584, 73675620-73675633, 73675654, 73675844, 73675922, 73675955, 73675984-73676030, 73676066-73676070, 73676104-73676150, 73676304-73676345, 73676407, 73676471-73676481, 73676595, 73676622-73676626, 73676646, 73676703, 73676716, 73676721, 73676783-73676799, 73676869-73676907, 73676920-73676975, 73677002-73677006, 73677029-73677044, 73677166, 73677186-73677193, 73677296-73677326, 73677337-73677339, 73677397-73677435, 73677473, 73677492, 73677515-73677564, 73677599, 73677675-73677715, 73677740-73677760, 73677861-73677878, 73677922, 73677960-73677976, 73678008-73678054, 73678149, 73678152, 73678155, 73678165, 73678180-73678212, 73678228-73678246, 73678309, 73678312, 73678347-73678361, 73678390-73678393, 73678425, 73678464-73678508, 73678522, 73678527-73678539, 73678550, 73678591, 73678594, 73678615-73678657, 73678685-73678692, 73678703, 73678723-73678726, 73678760, 73678866-73678885, 73678974-73679032, 73679046, 73679180, 73679294-73679331, 73679360, 73679363-73679391, 73679498-73679536, 73679561-73679634, 73679645-73679648, 73679674-73679687, 73679693-73679695, 73679704-73679728, 73679738-73679780, 73679814-73679861, 73679884-73679927, 73679938-73679952, 73679973, 73679984, 73679994-73680029, 73680041-73680042, 73680057, 73680102-73680150, 73680176-73680239, 73680246-73680292, 73680312-73680360, 73680378, 73680385-73680404, 73680435-73680451, 73680481, 73680494-73680540, 73680613-73680631, 73680641, 73680660-73680689, 73680732-73680750, 73680762-73680763, 73680767, 73680793-73680799, 73680805, 73680831-73680840, 73680867-73680868, 73680872, 73680919-73680923, 73680953-73680988, 73680993, 73681001-73681002, 73681071-73681077, 73681120-73681156, 73682330-73682366, 73777487, 73777529-73777532, 73828342
445DGUOK20.986810551558751183474154142, 74166101, 74166126-74166131, 74166139, 74177738, 74177816
446MOGS20.999204455051712251474689005, 74689327
447REEP120.882838283828387160686479114-86479123, 86479168-86479174, 86481861, 86481864-86481870, 86481905-86481937, 86491111-86491121, 86491126, 86564605
448EIF2AK320.92748433303491243335188874668-88874671, 88876099, 88883006, 88887558, 88926512-88926516, 88926527-88926528, 88926541-88926556, 88926559, 88926571-88926629, 88926640-88926792
449RPIA20.99679487179487393689028838, 89028851, 89036067
450TMEM12720.98744769874477971796930961, 96931084-96931091
451RANBP220.960620155038763819675109336063-109336066, 109336077-109336125, 109347230-109347256, 109347781-109347811, 109347922-109347930, 109352023-109352043, 109352099-109352146, 109352687, 109352698-109352705, 109357110-109357126, 109365376, 109368104-109368111, 109368433, 109368437, 109370343-109370363, 109383052-109383058, 109383215, 109383295-109383301, 109383509-109383543, 109383676-109383682, 109383727-109383766, 109383884-109383913, 109384628-109384634
452NPHP120.848574237954773082034110881438, 110881445-110881447, 110889260-110889345, 110901126-110901137, 110901141-110901152, 110901155, 110901165-110901200, 110902070-110902086, 110902100-110902146, 110904330-110904335, 110905502-110905542, 110907759-110907791, 110922652, 110922657, 110922660, 110922664, 110926096-110926097, 110936099-110936105
453MERTK20.992243000112656320-112656341, 112786281-112786282
454BIN120.98372615039282291782127808466-127808476, 127815115-127815132
455CFC120.9300595238095247672131279530-131279532, 131280373, 131280378, 131280403-131280443, 131280748
456RAB3GAP120.9976238968092372946135888122, 135890512, 135893255-135893259
457ZEB220.98902606310014403645145274864-145274900, 145274915-145274917
458NEB20.999098828477021819974152417821, 152432756-152432762, 152432787, 152432823-152432829, 152470895, 152512531
459CACNB420.99360204734485101563152954851-152954852, 152954916-152954920, 152955510-152955512
460ACVR120.99346405228758101530158622641-158622643, 158634793-158634799
461SCN2A20.99551345962114276018166170222-166170225, 166170422, 166187890-166187899, 166187991-166188002
462SCN1A20.974153743538441555997166848130, 166848133, 166848172, 166848222-166848228, 166848523-166848529, 166848572-166848577, 166848583, 166848589, 166848631-166848637, 166848746-166848761, 166848834-166848865, 166848895-166848901, 166848918, 166848925-166848932, 166850756, 166850847, 166852602-166852613, 166854559-166854562, 166854571-166854575, 166856256-166856282, 166892789-166892793, 166904236, 166904241, 166908293, 166912933
463SCN9A20.9996629592180725934167145143, 167168093
464ABCB1120.99672213817448133966169830313-169830318, 169833099, 169836403-169836408
465SLC25A1220.96514482081492712037172641796-172641826, 172641936, 172641941, 172644118-172644120, 172644310-172644320, 172644340, 172647962, 172648000, 172648012-172648015, 172648041-172648050, 172666123-172666129
466CHRNA120.9985443959243121374175618248, 175618353
467CHN120.9971014492753641380175742675-175742678
468HOXD1320.887596899224811161032176957672, 176957679-176957707, 176957719-176957757, 176957786-176957788, 176957877-176957880, 176957893, 176957902, 176957955-176957967, 176958025, 176958133-176958153, 176958328-176958330
469AGPS20.9994941831057211977178364347
470PRKRA20.998938428874731942179306389
471TTN20.9986333891948137100248179425462, 179510662-179510670, 179514904, 179514910-179514917, 179516655, 179523929-179523960, 179523975-179523982, 179527772-179527778, 179542497-179542564, 179569436, 179578730
472CERKL20.917448405253281321599182468564, 182468589-182468591, 182468594-182468637, 182468641-182468648, 182468662-182468690, 182468743-182468781, 182468799-182468806
473COL3A120.9997727789138814401189839219
474COL5A220.99222222222222354500189915365-189915382, 189916903, 189917659-189917661, 189917666-189917672, 189921705, 189923159, 189963484, 189964833-189964835
475SLC40A120.99766899766941716190428675, 190445176-190445178
476STAT120.99023524189969222253191859787-191859800, 191859870-191859876, 191865868
477HSPD120.96051103368177681722198351835-198351882, 198352750, 198358176, 198361881-198361884, 198361992-198361994, 198362034-198362042, 198362116, 198363537
478CASP820.99257884972171121617202149679-202149690
479ALS220.99778850020105114974202593240, 202593244, 202593247-202593248, 202593277, 202593796, 202598058-202598062
480BMPR220.9993583573949323117203242273, 203420712
481NDUFS120.98397435897436352184206992621-206992655
482ACADL20.993812838360481293211089929-211089930, 211089942-211089947
483ABCA1220.99627632254751297788215854155-215854156, 215890459-215890472, 215901749-215901760, 215928899
484SMARCAL120.99650959860384102865217297506-217297508, 217297511-217297514, 217300111-217300113
485WNT10A20.9992025518341311254219757512
486DES20.9943382873319281413220283246, 220283277, 220283280-220283281, 220283288-220283290, 220283652
487OBSL120.99015990159902565691220416841, 220417283, 220435678-220435697, 220435730-220435754, 220435794-220435798, 220435848, 220435952-220435954
488COL4A420.9998025276461315064227895296
489COL4A320.99142230201476435013228029504-228029525, 228102695, 228104910, 228111435, 228113175, 228113218-228113219, 228176529-228176530, 228176570-228176582
490SLC19A320.96914822266935461491228563469-228563473, 228563533-228563543, 228563564-228563565, 228563684-228563694, 228563991-228563997, 228564159, 228564226-228564232, 228566917-228566918
491AGXT20.97709923664122271179241808289-241808291, 241808342-241808345, 241808384, 241808403, 241808406-241808415, 241808602-241808605, 241808619-241808620, 241808685, 241808689
492IDH3B200.976683937823832711582639476-2639483, 2640373, 2640376-2640385, 2640753, 2640957-2640960, 2644105-2644107
493AVP200.264646464646463644953063276-3063448, 3063635-3063677, 3063690-3063824, 3065232-3065244
494PANK2200.9994162288383117133870283
495PRNP200.93963254593176467624680088-4680115, 4680149, 4680156, 4680594-4680609
496JAG1200.9961717254580314365710632852-10632864, 10654161
497THBD200.90219907407407169172823028517-23028518, 23028591, 23028689-23028694, 23028733-23028745, 23028823-23028827, 23028832-23028843, 23028932, 23028959-23028966, 23029003-23029004, 23029099-23029103, 23029126, 23029136, 23029309-23029313, 23029381-23029387, 23029464-23029466, 23029494, 23029501-23029518, 23029564-23029594, 23029693-23029701, 23029743-23029767, 23029777, 23029863-23029874
498SNTA1200.9927536231884111151832031325-32031333, 32031376-32031377
499GDF5200.986719787516620150634022219-34022231, 34025158-34025159, 34025286, 34025289-34025292
500SAMHD1200.999468367889421188135547871
501CTSA200.997995991983973149744520238-44520240
502CD40200.99280575539568683444757674-44757679
503SLC2A10200.996924969249695162645353770-45353772, 45354706, 45354849
504SALL4200.9914611005692627316250400990-50400993, 50406737, 50406921, 50406985, 50407460, 50408473-50408476, 50418830-50418842, 50418848-50418849
505GNAS200.96210661528581118311457429210-57429212, 57429503-57429504, 57429507, 57429528, 57429556-57429571, 57429654-57429656, 57429676-57429695, 57429772-57429816, 57429980, 57429993-57430006, 57430094, 57430112-57430114, 57430372-57430379
506EDN3200.99860529986053171757876572
507COL9A3200.9576642335766487205561448417-61448418, 61448425-61448451, 61448464-61448494, 61448930, 61456346, 61456350-61456373, 61471941
508CHRNA4200.83386411889597313188461981612, 61987339, 61987358, 61987398-61987434, 61987723-61987767, 61990900-61991051, 61992442-61992517
509KCNQ2200.604429171439481036261962038173, 62038349-62038353, 62038480-62038483, 62038580, 62046256-62046271, 62059754-62059757, 62059763, 62059773-62059788, 62062693, 62065162-62065165, 62065187-62065231, 62065255-62065256, 62069985, 62069988-62070000, 62070036-62070046, 62070951-62071061, 62073759-62073861, 62073870-62073884, 62076012-62076187, 62076591-62076717, 62078108-62078190, 62103521-62103816
510SOX18200.57748917748918488115562679566-62679567, 62679683, 62679701, 62679754, 62679757, 62679840-62679865, 62679884-62679894, 62679924-62679974, 62680038, 62680063, 62680086, 62680089-62680096, 62680169-62680171, 62680175, 62680200-62680212, 62680268, 62680299-62680305, 62680512-62680869
511APP210.9814094249891943231327264067, 27264079, 27264082-27264083, 27264090, 27277337-27277366, 27326972-27326979
512IFNGR2210.9339250493096667101434775850-34775915, 34793886
513RCAN1210.895915678524377975935987109, 35987147-35987148, 35987165-35987214, 35987240-35987249, 35987261, 35987274-35987284, 35987297, 35987308-35987310
514RUNX1210.993762993762999144336164432-36164436, 36164509, 36164613, 36171643, 36171759
515CLDN14210.99583333333333372037833586-37833588
516AIRE210.55006105006105737163845705891-45705936, 45705954-45705955, 45705959-45705966, 45705970-45705978, 45705991-45706005, 45706010, 45706013, 45706447-45706461, 45706509-45706530, 45706571-45706610, 45706864-45706878, 45706882, 45706898, 45706957-45706984, 45706987, 45707417, 45707420, 45707471-45707472, 45708234, 45708272, 45708282, 45708285-45708286, 45708299, 45708308, 45709581-45709603, 45709632-45709633, 45709636-45709648, 45709673-45709685, 45709886-45709908, 45711014, 45711021, 45711031, 45711035, 45711081-45711093, 45712250, 45712876-45713040, 45713055-45713058, 45713683-45713687, 45713746-45713793, 45714284-45714386, 45716266-45716328, 45717550, 45717553-45717590, 45717601, 45717610
517ITGB2210.9835497835497838231046308662, 46308665-46308673, 46308677-46308687, 46308747, 46308755-46308759, 46309359-46309363, 46309407-46309410, 46309957-46309958
518COL18A1210.91377018043685454526546906860-46906871, 46907361-46907370, 46907403, 46909407, 46910189-46910250, 46910752-46910767, 46911139, 46911158-46911199, 46911211-46911228, 46914485, 46914785, 46916469, 46916475-46916477, 46917559, 46923925-46923968, 46924330-46924341, 46924412, 46924426-46924448, 46924463-46924467, 46925048-46925053, 46925077-46925082, 46925092, 46925108-46925114, 46925126-46925192, 46925283-46925291, 46925297, 46925307, 46925311-46925312, 46925316, 46925765-46925820, 46925872-46925880, 46930027, 46930030, 46930039, 46931025-46931046, 46931069-46931071, 46931081, 46932123, 46932169, 46932176, 46932312
519COL6A1210.75542597991578755308747401765-47401861, 47402548-47402677, 47404183-47404235, 47404269-47404326, 47404334, 47404355, 47404369-47404383, 47406440-47406484, 47406489, 47406508-47406547, 47406580-47406599, 47406858-47406861, 47406867-47406986, 47407069-47407081, 47407413-47407433, 47407524-47407568, 47408998-47409009, 47410172-47410198, 47410292-47410293, 47410308-47410325, 47410739-47410740, 47410925, 47419067-47419085, 47419571-47419572, 47419591-47419597, 47422535
520COL6A2210.94052287581699182306047531450-47531484, 47532027, 47538576-47538582, 47540446-47540470, 47541025, 47541488-47541513, 47542837, 47545500, 47545703, 47545768-47545782, 47545823, 47545826, 47551874-47551877, 47551895, 47552082-47552085, 47552088-47552099, 47552166, 47552200-47552210, 47552280-47552294, 47552316, 47552323-47552338, 47552385, 47552395
521COL6A2210.801169590643276834247552200-47552210, 47552280-47552294, 47552316, 47552323-47552338, 47552385, 47552395, 47552481-47552503
522FTCD210.307503075030751126162647556914-47556958, 47557165, 47557214, 47557233, 47558422, 47558441-47558463, 47558477-47558491, 47558522-47558532, 47558535-47558537, 47558552, 47558559, 47558832-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570048-47570063, 47570072-47570080, 47570087-47570114, 47570129-47570164, 47570317-47570368, 47570371-47570375, 47570382-47570384, 47570399, 47570409-47570439, 47571472-47571513, 47571520-47571599, 47571615-47571651, 47571806-47571894, 47572829, 47572853-47572871, 47572888-47572906, 47572929, 47572932-47572949, 47574063-47574105, 47574111-47574119, 47574135-47574179, 47574202-47574246, 47575384-47575417
523PCNT210.951753071621224831001147744143-47744156, 47744185-47744196, 47754407-47754413, 47754468-47754491, 47754524-47754530, 47775512-47775513, 47775540, 47786614-47786621, 47786646-47786651, 47786657, 47786668-47786669, 47786674, 47786714, 47786741, 47787033, 47801673-47801676, 47801679, 47801684-47801696, 47801730-47801737, 47801740, 47801743-47801755, 47808685, 47808702, 47818169, 47831232-47831243, 47831280, 47831292-47831302, 47831308-47831311, 47831323, 47831356, 47831403, 47831419, 47831423, 47831441-47831513, 47831529, 47831533-47831539, 47831688-47831736, 47831832-47831835, 47831854, 47831969-47831981, 47832842-47832864, 47836106-47836147, 47836424-47836426, 47836436, 47836520-47836558, 47836581-47836614, 47836653, 47836662, 47836703-47836705, 47836710-47836714, 47836722-47836732, 47848481, 47849925-47849931
524PRODH220.92623405435385133180318923539-18923568, 18923587-18923626, 18923655, 18923670-18923679, 18923709-18923755, 18923784-18923785, 18923789-18923791
525GP1BB220.01127214170692461462119711093-19711102, 19711377-19711924, 19711932-19711987
526TBX1220.90456989247312142148819748428-19748502, 19748516-19748570, 19753928-19753939
527CHEK2220.86712095400341234176129083906-29083920, 29083942-29083965, 29085135-29085171, 29090051-29090092, 29091719-29091751, 29091813-29091844, 29115424, 29126408-29126412, 29126427-29126461, 29126477-29126483, 29126488, 29126521-29126522
528NF2220.999440715883671178830000056
529DRG1220.999094202898551110431816385
530SLC5A1220.93233082706767135199532445946, 32445950-32445953, 32463970-32464013, 32464564-32464580, 32495223-32495253, 32495299-32495303, 32495309-32495310, 32505993-32506013, 32506041, 32506044-32506050, 32506053-32506054
531TIMP3220.99685534591195263633198029, 33198041
532TRIOBP220.94068751761059421709838111906-38111915, 38119456-38119462, 38119742, 38119759, 38119784-38119804, 38119829-38119862, 38119879-38119921, 38119948-38119982, 38120029-38120068, 38120123-38120129, 38120150-38120199, 38120324-38120354, 38120426-38120432, 38120471-38120506, 38120593-38120600, 38120764-38120800, 38120935-38120968, 38121750, 38122122, 38122448, 38122462, 38122496-38122510
533PLA2G6220.6891615541922315248938508284-38508311, 38508512-38508562, 38508577-38508584, 38509563-38509566, 38509572, 38509592-38509613, 38509632-38509638, 38509641-38509651, 38509658-38509676, 38509745
534PLA2G6220.90128046261875239242138508171-38508269, 38508284-38508311, 38508512-38508562, 38508577-38508584, 38509563-38509566, 38509572, 38509592-38509613, 38509632-38509638, 38509641-38509651, 38509658-38509661, 38511546, 38511602, 38511614, 38511676
535EP300220.9953071083505934724541489022-41489041, 41489089-41489102
536TNFRSF13C220.7099099099099116155542322149, 42322227, 42322254-42322281, 42322316-42322335, 42322650-42322659, 42322673-42322773
537ATXN10220.9642857142857151142846067944-46067974, 46067987, 46068021-46068024, 46068027-46068030, 46068039-46068048, 46068056
538MLC1220.86860670194004149113450502463-50502534, 50502552, 50502566-50502627, 50512716-50512729
539TYMP220.9834368530020724144950964293, 50964432-50964435, 50964493-50964511
540ARSA220.9908136482939614152451063679, 51063682-51063683, 51063757, 51063873-51063878, 51063882, 51063890, 51064033, 51064104
541SHANK3220.81407322654462975524451113070-51113132, 51113476-51113636, 51113654-51113679, 51115058-51115060, 51117024-51117041, 51117078-51117108, 51117208-51117257, 51117308, 51117311-51117341, 51117447-51117461, 51117471-51117529, 51117536-51117567, 51117576-51117614, 51117740-51117822, 51117832-51117856, 51121768-51121845, 51123013-51123079, 51135951-51136143
542SUMF130.955555555555565011254403904-4403917, 4494560-4494564, 4494599, 4494702-4494725, 4508852-4508857
543FANCD230.96580615942029151441610076183, 10076193, 10078009-10078011, 10080963-10080970, 10080974-10080975, 10080996-10081017, 10081446-10081475, 10081510-10081515, 10081518-10081519, 10083325-10083328, 10083358-10083372, 10084326-10084332, 10085193-10085194, 10085204, 10085209, 10085219, 10085533-10085548, 10088299, 10088340-10088346, 10088400-10088407, 10089723, 10089733-10089735, 10114941-10114947, 10115018, 10115033
544VHL30.98598130841122964210183663, 10183850-10183857
545PPARG30.995388669301717151812422836, 12422839, 12422849, 12422948-12422950, 12422964
546BTD30.994485294117659163215643358-15643366
547GLB130.9936086529006913203433038682-33038691, 33107031, 33110407, 33114070
548CRTAP30.975953565505829120633155858-33155860, 33165942, 33174073-33174087, 33174123-33174126, 33175674-33175676, 33175680-33175681, 33175687
549MLH130.9889916336415725227137045920-37045924, 37056000, 37056003-37056005, 37059089-37059090, 37067153, 37067461, 37070394-37070402, 37070409-37070411
550SCN5A30.9940567159110235588938607920-38607921, 38616791, 38616794-38616796, 38616804-38616816, 38616856-38616859, 38616912-38616923
551TMIE30.99363057324841347146751074-46751076
552COL7A130.96876061120543276883548612939, 48617041, 48620046-48620067, 48623821-48623827, 48624011, 48624629-48624630, 48625278-48625307, 48625787-48625789, 48625801-48625811, 48626112, 48626117-48626135, 48626140-48626142, 48626145-48626158, 48626202-48626221, 48626318, 48626322-48626326, 48626761-48626768, 48626791, 48626810, 48626819-48626822, 48626826-48626834, 48627038-48627075, 48627103-48627143, 48627661-48627667, 48627709, 48627722, 48627734, 48628123, 48629131-48629150, 48629195, 48630568
553SLC25A2030.984547461368651490648921456-48921469
554LAMB230.999814711876971539749167765
555RFT130.9532595325953376162653138039-53138053, 53138076-53138080, 53139805-53139819, 53145880-53145884, 53153908-53153918, 53153930, 53153934, 53153938, 53153946-53153948, 53156485-53156491, 53157752-53157763
556HESX130.99641577060932255857232250, 57232876
557PDHB30.9833333333333318108058413761-58413771, 58417488-58417494
558ATXN730.90028188865398283283863898275-63898412, 63898440-63898584
559PROK230.964102564102561439071834157-71834170
560ROBO230.9903311578438540413777089946-77089947, 77629164-77629170, 77629255-77629269, 77657034-77657049
561GBE130.99952584163111210981810546
562PROS130.9798129000492441203193595844-93595850, 93595913-93595926, 93598010, 93603669, 93603709-93603713, 93605199-93605211
563ARL13B30.8010878010878256128793722670-93722674, 93755491, 93758784-93758804, 93758811, 93761859-93762084, 93768254-93768255
564CPOX30.9831501831501823136598311876-98311882, 98312142-98312157
565IQCB130.97996661101836361797121489399-121489421, 121500699, 121507136, 121508955, 121514335-121514336, 121526203-121526210
566ACAD930.99732047159751866128598587-128598591
567RHO30.9990448901623711047129251533
568ATP2C130.99333333333333192850130650885, 130653501, 130653511-130653512, 130659474-130659486, 130718457-130718458
569NPHP330.99398948159279243993132440944, 132441000-132441001, 132441124-132441126, 132441158-132441175
570PCCB30.9981481481481531620135969364-135969366
571FOXL230.891246684350131231131138664618-138664621, 138664707, 138664792-138664896, 138665015-138665023, 138665050, 138665121-138665123
572MRPS2230.97876269621422231083139067046, 139067148, 139069045-139069046, 139069050, 139069149-139069156, 139069888-139069890, 139071578-139071579, 139071582-139071586
573HPS330.998341625207353015148847544, 148872972, 148877919-148877921
574GFM130.98093971631206432256158383177, 158399868-158399869, 158399908-158399929, 158399938-158399946, 158402410-158402417, 158409196
575IFT8030.999570446735412328160000335
576SLC2A230.97142857142857451575170715704-170715727, 170715765-170715777, 170716854, 170723213, 170723235, 170723787-170723791
577MCCC130.96510560146924762178182733294, 182735079-182735113, 182737973-182737976, 182738000-182738025, 182740220-182740221, 182740295, 182755206-182755212
578KLHL630.998392282958231866183225938, 183225975-183225976
579EIF2B530.9972299168975162166183860307-183860312
580CLCN230.912124582869862372697184064514-184064517, 184064800-184064801, 184069818-184069820, 184070094-184070095, 184070099-184070102, 184070105-184070118, 184070591-184070592, 184070597-184070598, 184071057-184071063, 184071137, 184071182, 184071498, 184071969-184071980, 184072032-184072080, 184072384, 184072443-184072446, 184074783-184074788, 184074792, 184074847-184074873, 184074984, 184074992-184074993, 184074998-184075009, 184075175, 184075418, 184075423-184075425, 184075444, 184076023, 184076531-184076561, 184076764-184076765, 184076794-184076796, 184076905, 184079205-184079214, 184079220-184079221, 184079224, 184079228, 184079237-184079257
581TP6330.999510523739612043189526243
582CLDN1630.9498910675381346918190105961-190105999, 190106109, 190106118-190106122, 190126180
583OPA130.999671916010513048193355037
584PDE6B40.69902534113067722565647749, 647872, 647878-647887, 647910, 647913-647919, 649754-649772, 650043, 650663-650665, 650682-650683, 650691-650705, 650726, 650736-650761, 650795-650812, 651142-651147, 651160-651251, 651259-651262, 652741, 652753-652758, 652770, 652773, 655923-655942, 655966-656030, 656330-656407, 656889-656900, 656923, 656944-656962, 657559-657571, 657602-657649, 657922-657951, 657996-658010, 658670-658733, 659044-659066, 659075-659105, 660320-660374, 661645-661657, 661690-661691, 661710-661751, 663835-663859
585IDUA40.780835881753314301962980873-980876, 980883-980897, 980906-980928, 980933, 981625-981648, 981686-981725, 994464, 994468, 995593, 995649, 995820, 995893-995919, 996184-996205, 996213-996254, 996258, 996263-996273, 996587-996603, 996623-996668, 996708-996732, 996824-996839, 996847-996909, 996932-996936, 997133-997144, 997155-997156, 997177-997201, 997233, 997242, 997250, 998103
586FGFR340.99835187474248424271795662-1795665
587SH3BP240.979536887452883818572831447-2831474, 2831824-2831830, 2835522-2835524
588HTT40.9727436631668325794293076571-3076585, 3076600-3076603, 3076604-3076809, 3180168-3180169, 3182276-3182288, 3182368-3182376, 3184131-3184138
589DOK740.6600660066006651515153465111-3465117, 3465233-3465244, 3478069-3478124, 3478137-3478186, 3478206-3478251, 3478265-3478269, 3487274-3487303, 3487324-3487344, 3487351-3487385, 3491478-3491479, 3491506, 3494496-3494502, 3494532-3494547, 3494600, 3494631-3494638, 3494642-3494645, 3494648, 3494740-3494811, 3494822-3494850, 3494871-3494882, 3494966-3494989, 3495017-3495059, 3495069-3495096, 3495198-3495202
590DOK740.614213197969542285913494496-3494502, 3494532-3494547, 3494600, 3494631-3494638, 3494642-3494645, 3494648, 3494740-3494811, 3494822-3494850, 3494871-3494882, 3494966-3494989, 3495017-3495059, 3495069-3495079
591EVC240.99974535268653139275710232
592EVC40.994629070157771629795746947, 5754671-5754672, 5754678-5754679, 5754682-5754683, 5754765-5754766, 5755633-5755639
593SLC2A940.99753542821935416239998473-9998475, 9998493
594CC2D2A40.998766193707596486315556813-15556816, 15591252-15591253
595QDPR40.929251700680275273517513585, 17513618, 17513628-17513677
596CNGA140.9929824561403516228047954633-47954646, 47973050, 47973114
597PDGFRA40.9779816513761572327055127563, 55129979-55129999, 55130045, 55133559, 55133565-55133568, 55138563-55138594, 55138677, 55141055, 55144064-55144070, 55161331-55161332, 55161371
598KIT40.9873763220743837293155573291, 55598090, 55598133-55598134, 55598154, 55602760, 55602920-55602948, 55602980, 55602986
599SLC4A440.9774733637747374328572205088-72205091, 72215671-72215692, 72215708, 72215720-72215738, 72222871, 72263322-72263348
600ALB40.999453551912571183074280820
601CDS140.994227994227998138685530652-85530654, 85530662-85530663, 85538776, 85538784, 85538798
602PKD240.92363261093911222290788928886-88929034, 88929064-88929084, 88929099, 88929106, 88929109-88929143, 88929158-88929162, 88929174-88929176, 88929191, 88929195-88929196, 88929244, 88929343, 88929472, 88977282
603MTTP40.927374301675981952685100503067, 100504558-100504579, 100504615-100504629, 100504661-100504667, 100510859, 100512849, 100512896-100512919, 100516024-100516029, 100516033, 100521741, 100521811, 100521859-100521890, 100522810-100522834, 100522867, 100527910, 100528069, 100528088, 100529988-100529991, 100529994, 100532489-100532512, 100534213, 100534288-100534292, 100540131-100540132, 100542235-100542237, 100542240-100542241, 100542317, 100542350-100542357, 100543982-100543984
604MANBA40.98030303030303522640103560950-103560952, 103610780-103610797, 103610806, 103610818, 103611753-103611780, 103611850
605CISD240.8676470588235354408103808498-103808499, 103808512-103808540, 103808565-103808587
606TACR340.98712446351931181398104512656, 104512728, 104577434, 104577460-104577463, 104579372-104579376, 104579455, 104579485, 104640702-104640705
607CFI40.97602739726027421752110662155-110662168, 110673639-110673659, 110687801-110687807
608ANK240.995199595755435711874114176957, 114232480-114232481, 114232493-114232501, 114238938, 114253171, 114253183, 114257077, 114257114-114257123, 114260472, 114263003-114263016, 114264297-114264298, 114274304-114274315, 114275861, 114279736
609BBS1240.9976558837318352133123663188-123663192
610SMAD140.9978540772532231398146435786-146435788
611FGB40.9993224932249311476155489619
612CTSO40.992753623188417966156874934-156874940
613ETFDH40.9697950377562561854159620139, 159624598, 159624604, 159624607-159624611, 159624641-159624650, 159624729-159624736, 159627359, 159627391, 159627400-159627404, 159627450, 159627520-159627523, 159627903, 159627908-159627915, 159629627-159629635
614GK40.99157641395909141662166199284-166199290, 166199603-166199609
615SLC25A440.992196209587517897186064627-186064633
616F1140.95527156549521841878187194252, 187201537, 187205349-187205388, 187206965-187206966, 187208838, 187208887-187208914, 187208951-187208961
617SDHA50.723809523809525511995218471-218477, 218489-218531, 223682-223683, 224543-224558, 225588-225596, 225627-225672, 228300-228330, 228360-228399, 231002, 231005, 233592-233598, 233689-233697, 233730-233755, 235388-235429, 236649, 236653, 236676-236678, 240518-240527, 240563-240578, 251107-251114, 251143-251166, 251173-251218, 251500-251506, 251538-251546, 251562-251583, 254509-254532, 254571-254618, 256449-256475, 256511-256535
618SLC6A1950.9181102362204715619051201766-1201796, 1201806-1201878, 1201916-1201967
619TERT50.50014710208885169933991271283-1271313, 1272347-1272365, 1278756-1278796, 1278811-1278907, 1279411-1279585, 1280285-1280340, 1280362-1280420, 1280439-1280453, 1282544-1282587, 1282614-1282662, 1282671-1282739, 1293431-1293458, 1293475, 1293500-1293585, 1293612, 1293622, 1293627-1293640, 1293643-1293647, 1293676-1293695, 1293707-1293796, 1293870-1293871, 1293910-1293953, 1293978, 1293984, 1293997-1294036, 1294056-1294058, 1294065-1294078, 1294090-1294114, 1294171-1294177, 1294185-1294337, 1294376-1294380, 1294395-1294397, 1294427-1294460, 1294472-1294483, 1294490-1294499, 1294534-1294751, 1294760, 1294770-1294781, 1294886-1294887, 1294894-1295104
620SLC6A350.8427267847557729318631414806-1414918, 1416247-1416250, 1416291-1416293, 1420684-1420696, 1420706-1420714, 1420781-1420818, 1421991-1422020, 1422038-1422120
621DNAH550.99711711711712401387513701422-13701436, 13737461-13737476, 13762872-13762878, 13766099-13766100
622ANKH50.9898580121703915147914871542-14871556
623FAM134B50.996653279785815149416616763, 16616897, 16616905, 16617016, 16617019
624NIPBL50.9973856209150322841536975962-36975972, 36975975-36975981, 37048767-37048770
625LIFR50.9911961141469329329438502790, 38504215-38504223, 38506070-38506081, 38506098, 38506115-38506120
626OXCT150.9904030710172715156341801131-41801137, 41803238-41803245
627GHR50.93635889410537122191742629140-42629205, 42695071-42695072, 42695172-42695191, 42699982, 42718790, 42719285, 42719306, 42719318, 42719338, 42719476-42719503
628ITGA250.9861816130851749354652285334-52285339, 52322620-52322632, 52347366-52347372, 52351413, 52351876, 52351892-52351900, 52351934-52351941, 52351971-52351974
629NDUFS450.99431818181818352852942073-52942074, 52954413
630ERCC850.982367758186421119160199535, 60200635-60200650, 60200672, 60200675-60200677
631NDUFAF250.98235294117647951060368960-60368966, 60368974, 60448531
632SMN250.98983050847458988570247768-70247776
633MCCC250.90839243498818155169270883253-70883369, 70892150-70892173, 70922499, 70930828-70930837, 70931015-70931016, 70931056
634AP3B150.997564687975658328577411965, 77411977-77411978, 77412010-77412011, 77523255-77523257
635ARSB50.99563046192267160278076263, 78135241, 78280966, 78280982-78280984, 78280987
636VCAN50.99872436463546131019182785996, 82786060, 82786100, 82786154-82786162, 82789705
637RASA150.997137404580159314486564334, 86564343, 86564540-86564546
638GPR9850.99920723006184151892189981636-89981637, 89981654-89981655, 89989740, 89989744-89989746, 90012463-90012466, 90050945-90050947
639WDR3650.96848739495798902856110454765-110454767, 110456817-110456823, 110459610-110459622, 110459874-110459887, 110461306-110461315, 110461338-110461350, 110461371-110461395, 110461445, 110462479-110462482
640APC50.99589779653071358532112173349-112173354, 112174361, 112175413, 112175422-112175429, 112175656-112175665, 112175750-112175758
641HSD17B450.96653098145635742211118788287-118788289, 118788308, 118810116-118810149, 118811418, 118811530-118811536, 118813191, 118814614, 118814671-118814696
642LMNB150.840999432140832801761126113201-126113204, 126113227, 126113241-126113242, 126113255-126113285, 126113296-126113312, 126113341-126113374, 126113379, 126113388, 126113393-126113398, 126113401, 126113412-126113515, 126113538-126113540, 126113545, 126168386-126168459
643FBN250.984094289964531398739127648333-127648358, 127664409, 127692968-127692970, 127693018-127693020, 127704971-127705002, 127710368, 127710416, 127712503-127712513, 127712523, 127712532, 127713467, 127713540-127713554, 127714478-127714483, 127714549-127714572, 127728930-127728936, 127730854, 127730888-127730890, 127744479, 127873221
644MYOT50.97595190380762361497137206560, 137221831-137221854, 137222962-137222972
645MATR350.64386792452839062544138643105-138643140, 138643146-138643202, 138643212-138643235, 138643265-138643291, 138643341-138643357, 138643367, 138643543-138643545, 138643566-138643568, 138643579-138643586, 138643626-138643634, 138643713-138643715, 138643896-138643902, 138643989, 138644001, 138650390-138650392, 138650395-138650396, 138650399, 138651406-138651414, 138651425-138651426, 138651787-138651831, 138651839-138651877, 138653290-138653341, 138653381, 138654611-138654627, 138654661-138654686, 138654700-138654701, 138654704-138654710, 138655023-138655027, 138655084-138655101, 138655119, 138655157-138655158, 138655168-138655169, 138657602-138657653, 138657668, 138657672-138657701, 138657705-138657708, 138658174-138658195, 138658287-138658299, 138658311-138658352, 138658387-138658427, 138658431-138658550, 138658554-138658559, 138658574, 138658594-138658642, 138661175, 138661191, 138661227-138661240, 138661243-138661244, 138661316, 138661852-138661859, 138661872-138661928, 138661938-138661940, 138661944, 138665034-138665038, 138665061
646SRA150.8846694796061982711139930465-139930467, 139930725-139930728, 139930733, 139931629, 139936748, 139936760-139936787, 139936823, 139936826-139936843, 139937036, 139937042, 139937045-139937066, 139937072
647NDUFA250.8836300140025184-140025214, 140027104-140027108
648PDE6A50.97406116918312672583149286890, 149286912-149286914, 149286940-149286941, 149294558-149294560, 149310620-149310626, 149310704-149310731, 149314165-149314178, 149314259-149314267
649SLC26A250.9995495495495512220149361370
650TCOF150.9997704315886114356149737343
651GM2A50.998281786941581582150646950
652GLRA150.96142649199418531374151202260, 151231098, 151231162-151231165, 151234622, 151234717-151234718, 151235871-151235885, 151235893, 151304055-151304082
653ITK50.97155126140633531863156671321-156671327, 156671466-156671480, 156672767, 156672950-156672951, 156675953-156675967, 156675971, 156675976, 156676001, 156679647, 156679651-156679659
654IL12B50.9888551165146911987158749443-158749453
655GABRG250.96705426356589511548161495099, 161522518-161522519, 161529612, 161530927, 161530952-161530997
656NKX2-550.998974358974361975172659920
657NSD150.99851687059696128091176719139, 176719145-176719146, 176721131-176721139
658GRM650.9992406985573322634178421671-178421672
659SQSTM150.895691609977321381323179247945-179247975, 179247979-179247983, 179247995-179248071, 179248093, 179248098, 179248102, 179248105-179248116, 179248139-179248141, 179250004-179250010
660FLT450.7065004887585512014092180041155-180041160, 180043388-180043412, 180043437-180043439, 180043459-180043489, 180043900-180043933, 180043960-180043968, 180045770-180045773, 180045780-180045920, 180046021-180046109, 180046261-180046366, 180046665-180046769, 180047173-180047218, 180047235-180047265, 180047274-180047308, 180047625-180047632, 180047648-180047658, 180047706-180047715, 180047931-180047985, 180047992-180048007, 180048106-180048131, 180048152-180048165, 180048179-180048194, 180048222-180048228, 180048588-180048593, 180048636, 180048676-180048679, 180048816-180048822, 180048882-180048904, 180050972, 180050997-180051003, 180051031-180051032, 180051036-180051059, 180052869, 180052894-180052935, 180052949, 180052996-180053012, 180053164-180053209, 180053233-180053240, 180056706, 180056713-180056714, 180056776-180056794, 180056804-180056813, 180056825-180056826, 180056979-180056991, 180057024-180057042, 180057067-180057068, 180057095, 180057225-180057231, 180057295, 180057584-180057613, 180057637-180057640, 180057711, 180057733, 180057749, 180057762-180057768, 180057772-180057774, 180057786, 180076488-180076545
661FOXC160.953068592057767816621611102-1611103, 1611180-1611203, 1611419-1611430, 1611437, 1611552-1611553, 1611824, 1611827-1611830, 1612014-1612045
662TUBB2B60.5605381165919358813383224985-3225070, 3225087-3225088, 3225130, 3225140, 3225143, 3225151, 3225166-3225189, 3225205-3225286, 3225307-3225339, 3225367-3225410, 3225416-3225480, 3225493, 3225497, 3225505-3225510, 3225513, 3225540, 3225576-3225598, 3225649, 3225653, 3225658, 3225662, 3225735-3225747, 3225754-3225755, 3225759, 3225774-3225810, 3225829-3225843, 3225896, 3225927-3225941, 3226045, 3226412, 3226419-3226422, 3226428-3226431, 3226438-3226440, 3226470-3226503, 3226795-3226821, 3226868-3226892, 3227721-3227728, 3227741-3227744, 3227747-3227762
663F13A160.986812187357892921996305605, 6305627-6305632, 6305704-6305706, 6305709-6305713, 6305750-6305763
664DSP60.99918755803157786167569463, 7580347, 7580958, 7580998, 7581071, 7583751-7583752
665GCM260.997370151216314152110877411, 10877458-10877460
666ATXN160.997549019607846244816327888, 16327909, 16327915-16327918
667ALDH5A160.996964177292055164724495392-24495393, 24495396-24495398
668HFE60.997134670487113104726087723, 26091069, 26091710
669HLA-H60.4146666666666743975029855764, 29855797-29855871, 29855901, 29855915-29855931, 29855940-29855941, 29855945, 29855952, 29855957, 29855965, 29855969-29855971, 29855977-29856001, 29856258-29856261, 29856268, 29856285-29856287, 29856303, 29856311-29856314, 29856318, 29856347, 29856353, 29856368, 29856402, 29856412-29856448, 29856455-29856497, 29856513-29856663, 29856676-29856737
670NEU160.999198717948721124831829816
671CFB60.998158379373857380131905127-31905133
672TNXB60.94349403836185109192931976896-31976929, 31977388-31977395, 31977835-31977841, 31978498-31978535, 31978579-31978586, 31978782-31978788, 31980130-31980136
673CYP21A260.9751344086021537148832006337, 32006886, 32007200-32007206, 32007323-32007328, 32007576-32007596, 32007849
674TNXB60.980045565244722541272932009631-32009664, 32010123-32010130, 32010569-32010575, 32011232-32011269, 32011312-32011320, 32011644, 32012984-32012990, 32021198-32021205, 32023707-32023708, 32023830-32023838, 32023852, 32024624-32024637, 32025943-32025953, 32026079-32026083, 32029179-32029217, 32029226-32029228, 32029303, 32029335-32029336, 32030047, 32030095, 32030099-32030112, 32032613-32032619, 32035438-32035443, 32064371, 32064475-32064478, 32064631-32064635, 32064673-32064676, 32064741-32064752
675HLA-DQA160.8385416666666712476832605254-32605277, 32609147, 32609192-32609195, 32609197-32609242, 32609253-32609255, 32609264, 32609271, 32609277-32609279, 32609286, 32609297-32609299, 32609312, 32609325-32609331, 32609855, 32609873-32609874, 32609952, 32610009, 32610387-32610406, 32610445, 32610461, 32610535-32610536
676HLA-DQB160.4745547073791341378632629124-32629184, 32629193, 32629224-32629234, 32629768-32629770, 32629800-32629804, 32629844-32629918, 32629932-32629958, 32629969-32630015, 32632575-32632650, 32632692-32632786, 32632795, 32632832-32632836, 32634279, 32634325-32634328, 32634341
677COL11A260.998464786029558521133132648-33132655
678SYNGAP160.95138888888889196403233388042-33388108, 33393627-33393636, 33400532-33400583, 33405661, 33405917, 33408539-33408545, 33411179-33411189, 33411414-33411415, 33411427, 33411658-33411698, 33411723-33411725
679FANCE60.84419615145872251161135420325-35420455, 35420469-35420488, 35420498-35420537, 35420564-35420569, 35423578, 35423581, 35423635-35423670, 35423679-35423691, 35425354-35425356
680TULP160.85819521178637231162935473518-35473529, 35479449, 35479452, 35479456, 35479483-35479517, 35479547, 35479550-35479583, 35479957-35480047, 35480431-35480433, 35480436-35480440, 35480589-35480635
681MOCS160.79696493982208388191139874636-39874645, 39881133, 39881171, 39893422-39893589, 39895068-39895071, 39895084-39895133, 39895139, 39895148-39895149, 39895158-39895184, 39895194-39895317
682GUCA1A60.996699669967260642147099-42147100
683PEX660.89636425416242305294342946081-42946082, 42946085-42946086, 42946100, 42946110, 42946138-42946154, 42946238, 42946242, 42946256, 42946339-42946376, 42946394, 42946403-42946444, 42946470-42946481, 42946491, 42946505-42946569, 42946599, 42946605-42946606, 42946625-42946627, 42946636-42946659, 42946713-42946800, 42946833, 42946836
684CUL760.998626643123417509743006035-43006036, 43006091-43006092, 43008787-43008789
685RSPH960.7244283995186522983143612836-43613062, 43618216-43618217
686CD2AP60.9947916666666710192047501343, 47522448, 47541850, 47544745, 47547121-47547125, 47547161
687MUT60.999556147359081225349409614
688PKHD160.990756646216771131222551613236, 51613385-51613403, 51637500, 51637526-51637538, 51640616-51640639, 51712739, 51720697, 51720801, 51732787, 51747896-51747942, 51889381, 51890013-51890014, 51915021
689EYS60.999894011658721943566112374
690LMBRD160.996303142329026162370490416-70490421
691RIMS160.90962787950384459507972596753, 72596768, 72596782-72596784, 72596812-72596850, 72806791-72806794, 72889393-72889406, 72889501-72889507, 72892069-72892093, 72892116-72892161, 72892299, 72892323-72892379, 72892410-72892454, 72892636, 72892830, 72892837, 72892840, 72945366-72945372, 72947564-72947565, 72952043, 72952077-72952105, 72955533-72955554, 72955561, 72957740-72957765, 72957776-72957779, 72957788-72957810, 72957819, 72960043, 72960057, 72960115, 72960148, 72960714-72960723, 72960932-72960949, 72962464-72962468, 72968793, 72993778-72993785, 73000483-73000514, 73001678-73001695
692SLC17A560.90658602150538139148874304874, 74304907, 74310144-74310147, 74345131, 74345194, 74346420-74346430, 74348139-74348157, 74348172, 74351503-74351507, 74351559-74351600, 74363516-74363538, 74363561-74363590
693MYO660.998185588387777385876599787-76599793
694ELOVL460.99365079365079694580631476, 80631502-80631506
695PDSS260.975301200107531707, 107655402-107655411, 107780268-107780280, 107780319-107780320, 107780357, 107780473-107780475
696SEC6360.99211563731932182283108214751-108214768
697OSTM160.821890547263681791005108395560-108395606, 108395706-108395790, 108395809-108395855
698WISP360.996425379803441119112390775-112390778
699RSPH4A60.98233379823338382151116937888-116937894, 116937897-116937912, 116937941-116937942, 116938340, 116938345-116938347, 116938354-116938355, 116938377-116938378, 116938381-116938385
700GJA160.96170583115753441149121768091-121768092, 121768136, 121768922-121768928, 121769028-121769061
701LAMA260.9839794937521509363129204410-129204412, 129204418-129204420, 129204449-129204479, 129704270-129704307, 129704326-129704355, 129704363, 129704374-129704376, 129712655-129712656, 129712685, 129723574-129723595, 129725034-129725049
702ENPP160.9967602591792792778132129176, 132129190, 132129196, 132129208-132129211, 132129360, 132129363
703EYA460.99479166666667101920133769268, 133769271, 133769277-133769284
704AHI160.97354497354497953591135776934-135776941, 135778645, 135778812-135778833, 135784280-135784295, 135784355, 135784361, 135787435, 135811761-135811781, 135811813-135811836
705PEX760.9886831275720211972137143804-137143807, 137143810, 137143821, 137143824, 137143846, 137143903-137143904, 137143909
706PEX360.889483065953651241122143792103-143792110, 143792117-143792143, 143792149-143792154, 143792201-143792207, 143792212, 143792575-143792578, 143792694-143792701, 143793375-143793408, 143795970, 143810280-143810287, 143810339-143810358
707SYNE160.9854891263165938326394152536173, 152558047, 152558081, 152560679, 152563570, 152570349, 152576039-152576054, 152576058, 152576080-152576096, 152576116-152576148, 152576153, 152576173, 152576177-152576180, 152576732-152576769, 152576781-152576825, 152576850-152576881, 152577783-152577785, 152577815-152577823, 152577847-152577897, 152583261-152583262, 152583287-152583295, 152590302, 152602990-152603016, 152605165-152605168, 152614724-152614725, 152614737-152614741, 152614744, 152614756-152614763, 152615220-152615246, 152623093-152623112, 152623190, 152728284, 152730818, 152737685, 152737806, 152746645, 152749378, 152749382, 152749514, 152751284, 152751310, 152832181-152832189
708PARK260.97639484978541331398162864442-162864448, 162864480-162864505
709TBP60.901960784313731001020170871010-170871109
710LFNG70.7921052631578923711402559499-2559635, 2559647-2559648, 2559651-2559686, 2559712-2559727, 2559730-2559733, 2559750-2559774, 2559801-2559806, 2559888-2559898
711PMS270.975666280417156325896017219-6017220, 6026444, 6026529-6026544, 6026759-6026778, 6026829, 6026837, 6026840, 6026905-6026911, 6026942, 6026959, 6027014-6027020, 6027157-6027158, 6029432, 6029443, 6029451
712TWIST170.8062397372742211860919156560, 19156681-19156702, 19156759-19156769, 19156788-19156871
713DNAH1170.99336870026525901357221603857-21603858, 21603862, 21639648-21639651, 21775258, 21775420-21775433, 21778374-21778389, 21805153-21805155, 21893938, 21893945-21893946, 21904241-21904243, 21934533-21934536, 21939659-21939692, 21939734-21939738
714FAM126A70.9808429118773930156622985399-22985427, 22999876
715KLHL770.93583191368541113176123163396-23163405, 23164379-23164393, 23164667-23164710, 23164761-23164784, 23180503-23180505, 23205393-23205396, 23205511-23205520, 23207494-23207495, 23207528
716DFNA570.997987927565393149124742429-24742431
717HOXA1370.9485861182519360116727239316-27239342, 27239365, 27239400, 27239411-27239418, 27239445-27239467
718RP970.950450450450453366633135003, 33148908, 33148911-33148912, 33148915-33148942, 33148947
719BBS970.996621621621629266433217140-33217148
720TXNDC370.999434069043581176737936530
721GLI370.89289479232553508474342004196-42004206, 42004600-42004601, 42004639-42004650, 42004686-42004696, 42004753, 42004860, 42004885-42004893, 42004904-42004913, 42004920-42004921, 42004938-42004939, 42005014-42005077, 42005102, 42005113-42005123, 42005143-42005151, 42005160, 42005175-42005185, 42005210-42005285, 42005313-42005320, 42005387-42005389, 42005428-42005433, 42005439-42005448, 42005452-42005468, 42005503-42005556, 42005570, 42005597-42005598, 42005626-42005683, 42005730-42005738, 42005742-42005743, 42005814-42005827, 42005836, 42005867-42005872, 42005876-42005884, 42005891-42005904, 42005907-42005908, 42005916-42005918, 42005939-42005969, 42005988-42005993, 42006050-42006062, 42006115, 42006153-42006154, 42007201, 42007485
722PGAM270.99868766404199176244104886
723CCM270.9528089887640463133545039933-45039962, 45113094-45113096, 45113129-45113146, 45113889, 45113902-45113912
724DDC70.9979209979213144350595913-50595915
725EGFR70.9854115056427253363355086995, 55087005-55087035, 55211093, 55223566, 55229192-55229193, 55229252, 55229255, 55229298-55229299, 55232984-55232988, 55240699-55240705, 55273035
726GUSB70.9877300613496924195665429407-65429430
727ASL70.87813620071685170139565551615-65551619, 65553794-65553807, 65553815-65553820, 65553835-65553836, 65553887-65553908, 65554143-65554162, 65554272, 65554279, 65554620-65554628, 65554669-65554680, 65557020-65557024, 65557042-65557046, 65557574-65557578, 65557582, 65557780-65557793, 65557843-65557890
728KCTD770.987356321839081187066094156-66094162, 66094170-66094172, 66094177
729SBDS70.99070385126162775366456158-66456164
730NCF170.909090909090917582572639957-72639989, 72640029-72640039, 72643704-72643710, 72644230-72644236, 72645924-72645930, 72648672, 72648730-72648738
731ELN70.95402298850575100217573442518-73442590, 73466266-73466292
732NCF170.9582267689684649117374193665-74193671, 74202352, 74202410-74202417, 74202991-74203022, 74203474
733POR70.502692119432211016204375609667-75609683, 75609735-75609737, 75609764-75609783, 75610374, 75610440-75610443, 75611558, 75612869-75612896, 75613066-75613103, 75613147-75613148, 75613151, 75614107-75614276, 75614376-75614509, 75614897-75615062, 75615072-75615167, 75615242-75615386, 75615495-75615505, 75615526-75615559, 75615655-75615799
734HSPB170.888349514563116961875932059-75932082, 75932257, 75932309-75932341, 75932388-75932393, 75933167-75933168, 75933178, 75933378, 75933385
735CD3670.997885835095143141980301323, 80302140-80302141
736ABCB470.9955729166666717384087032491-87032492, 87043017, 87074278-87074291
737AKAP970.939269873763227121172491603050-91603096, 91603209, 91609603, 91622233-91622257, 91622265-91622271, 91622346, 91623955-91623987, 91624017-91624020, 91624029-91624034, 91624075, 91624937-91624940, 91624949-91624965, 91624969-91624999, 91625019-91625072, 91630238-91630245, 91630283-91630314, 91630404-91630442, 91630562-91630566, 91630571-91630572, 91630587-91630589, 91630620, 91630674-91630709, 91630796, 91630923-91630930, 91631039-91631088, 91631097, 91631216-91631231, 91631247-91631255, 91631263-91631264, 91631311, 91631359-91631412, 91631463-91631483, 91631486, 91631534, 91631572-91631580, 91631698-91631706, 91631751-91631754, 91631793, 91631806, 91632097-91632111, 91632114-91632133, 91632139, 91659234-91659247, 91660843-91660874, 91660898-91660901, 91667844-91667854, 91667928-91667934, 91667962, 91667977, 91667980-91667989, 91668069-91668078, 91668082-91668085, 91670012, 91670150-91670160, 91670186-91670189, 91674386-91674401, 91682218, 91682228-91682229
738KRIT170.9778380823156949221191851237, 91851251-91851256, 91852136-91852156, 91852182-91852185, 91852233-91852248, 91852268
739COL1A270.9824433065106172410194055111, 94055164-94055169, 94055315-94055317, 94055321, 94055349-94055363, 94055785-94055791, 94056355, 94056555-94056586, 94057000, 94057004, 94057185, 94058566, 94058698, 94058701
740SGCE70.999262536873161135694285354
741RELN70.991519707044438810377103179621-103179630, 103230198-103230202, 103230219, 103338366, 103338412, 103338442, 103338453, 103338472-103338499, 103341373-103341412
742SLC26A470.999573196756312343107350595
743SLC26A370.9843137254902362295107414410-107414419, 107427326-107427343, 107431558, 107431564, 107432358, 107432370-107432374
744IFRD170.98598820058997191356112102179-112102181, 112102189, 112112335-112112349
745MET70.99089384136113384173116380906-116380943
746CFTR70.97951834346163914443117188713-117188753, 117188760-117188800, 117188850, 117188877, 117235019-117235025
747AASS70.99532542250989132781121738592, 121738628, 121738862-121738868, 121738906, 121753673-121753675
748FLNC70.99510882856444408178128470992, 128498155-128498193
749ATP6V0A470.9778042013476562523138429966, 138437413-138437421, 138437442-138437445, 138437452, 138437514-138437524, 138437559-138437574, 138437581, 138440434-138440440, 138440492, 138441254-138441255, 138441283-138441285
750BRAF70.99043893959148222301140453091-140453109, 140453120-140453121, 140453166
751PRSS170.80241935483871147744142457365, 142458448-142458454, 142458483-142458529, 142458548-142458554, 142459676-142459697, 142459794-142459817, 142460366-142460397, 142460798-142460804
752CLCN170.9986518368722642967143042696-143042699
753CNTNAP270.9997497497497513996146741051
754KCNH270.966666666666671163480150648786-150648792, 150649603, 150655154-150655156, 150671849-150671850, 150671855-150671862, 150671899-150671915, 150671937, 150671970-150671984, 150674926-150674942, 150674957-150675001
755PRKAG270.97485380116959431710151329171-151329193, 151329204-151329208, 151372593-151372607
756SHH70.813534917206622591389155595594-155595640, 155595647-155595660, 155595688-155595740, 155595746-155595785, 155595796-155595834, 155595842-155595847, 155595919, 155595939-155595940, 155595990-155595993, 155596055, 155596104-155596123, 155596143-155596152, 155596155, 155596176-155596195, 155596305
757MNX170.790215588723052531206156798245, 156798273-156798274, 156802527-156802529, 156802635-156802642, 156802646, 156802658, 156802661, 156802664-156802758, 156802782-156802805, 156802811-156802900, 156802922-156802924, 156802961-156802984
758MCPH180.973285486443386725086264189-6264205, 6266816-6266863, 6272359, 6357420
759GATA480.9879608728367216132911566012, 11566172-11566178, 11566182-11566183, 11566224-11566226, 11566234, 11566398-11566399
760TUSC380.999044890162371104715397950
761LPL80.9901960784313714142819797000-19797013
762ADAM980.9926829268292718246038959382-38959394, 38959432, 38959449, 38961156, 38961198-38961199
763THAP180.98753894080997864242693243-42693244, 42693327, 42693478-42693479, 42694396-42694397, 42698201
764HGSNAT80.9675052410901562190842995641, 42995661-42995698, 42995711-42995712, 42995737-42995757
765CHD780.999332888592396899461712948, 61713058-61713059, 61714087-61714088, 61728987
766TTPA80.8004778972520916783763973872-63973916, 63973944, 63976812-63976818, 63976841-63976843, 63976872, 63978470-63978479, 63978508-63978509, 63978523-63978530, 63978587-63978588, 63978595-63978600, 63978615-63978619, 63985494-63985506, 63998400-63998413, 63998446-63998460, 63998472, 63998475-63998481, 63998487-63998497, 63998541-63998543, 63998568-63998580
767CYP7B180.999342537804081152165527687
768TMEM7080.8033205619412515478374888518-74888529, 74888545-74888551, 74888577-74888590, 74888640-74888658, 74888682-74888726, 74890991-74890992, 74891045-74891087, 74893715-74893722, 74893808-74893810, 74893821
769CA280.970625798212012378386376318-86376334, 86386587-86386589, 86386640-86386641, 86389490
770NBN80.999558498896251226590958422
771DECR180.9206349206349280100891049102, 91057103, 91057156, 91057194-91057215, 91063948-91063967, 91064083-91064110, 91064119-91064125
772TMEM6780.96385542168675108298894797600, 94811870-94811871, 94815860-94815864, 94815869, 94816990-94816996, 94817019-94817035, 94817070, 94822013-94822014, 94822018-94822023, 94822034-94822046, 94827533-94827575, 94828600-94828609
773GDF680.9861111111111119136897157155-97157159, 97157323-97157336
774VPS13B80.9807403701850923111994100205176-100205183, 100205187, 100403857-100403863, 100443790, 100779047-100779051, 100789032-100789060, 100789155-100789159, 100790937-100790957, 100790973, 100791020, 100791051-100791084, 100791101-100791125, 100791161, 100791171, 100791183-100791185, 100791189-100791193, 100796554-100796603, 100796632-100796663, 100831705
775DPYS80.98461538461538241560105478909-105478915, 105478921, 105478989-105478990, 105479078-105479079, 105479093-105479103, 105479106
776TRPS180.909652509652513513885116599234-116599243, 116599276-116599294, 116599320, 116599323-116599333, 116599346-116599349, 116599355-116599384, 116599411-116599481, 116599515-116599525, 116599531, 116599548-116599556, 116599559, 116599571-116599590, 116599613-116599640, 116599663-116599765, 116599781-116599782, 116599786-116599805, 116599808-116599810, 116599824, 116599831, 116616122, 116616125-116616126, 116616132-116616133
777EXT180.913877733154841932241118812081-118812093, 118812127-118812136, 118816964, 118817047-118817064, 118817082-118817132, 118819456-118819465, 118819495-118819525, 118819555, 118819559-118819564, 118819605-118819606, 118825114-118825121, 118825139-118825169, 118825177, 118830689-118830692, 118830765-118830769, 118834836
778KCNQ380.949217258495611332619133492534-133492538, 133492563, 133492571-133492591, 133492638-133492687, 133492714-133492767, 133492778-133492779
779TG80.9979535331648178307133879294, 133882071, 133898865, 133899352-133899355, 133899468-133899469, 133912569-133912570, 134107336-134107341
780SLURP180.9519230769230815312143822570, 143822578-143822586, 143822622-143822626
781CYP11B180.98611111111111211512143958513-143958533
782CYP11B280.9986772486772521512143996539, 143996553
783PLEC80.998221273568132514055144998901-144998919, 144999236-144999241
784GPT80.388329979879289121491145729696-145729719, 145729819, 145729989-145730023, 145730482-145730483, 145730503-145730505, 145730641-145730689, 145730705-145730757, 145730759-145730769, 145730783-145730784, 145730790-145730801, 145730823-145730853, 145731231-145731310, 145731378-145731514, 145731615-145731789, 145731884-145732039, 145732114-145732125, 145732139-145732203, 145732293-145732355, 145732383
785RECQL480.625585883650413583627145736829, 145736833, 145736838-145736846, 145736891-145736895, 145736905, 145736911, 145737073-145737110, 145737116, 145737168-145737172, 145737294-145737325, 145737329-145737331, 145737351, 145737359-145737372, 145737375, 145737426-145737448, 145737527-145737571, 145737597-145737628, 145737636, 145737687, 145737694-145737707, 145737775-145737803, 145737839-145737885, 145737893-145737933, 145738025-145738154, 145738230-145738284, 145738295-145738301, 145738317-145738352, 145738361-145738475, 145738501-145738521, 145738608-145738768, 145738770-145738864, 145738955-145739005, 145739014-145739016, 145739020, 145739025-145739038, 145739055-145739096, 145739322-145739345, 145739360-145739407, 145739418, 145739471-145739491, 145739620, 145739641, 145739644, 145739697-145739713, 145739746, 145739885-145739886, 145740339, 145740729, 145741273-145741274, 145741447, 145741619-145741620, 145741721-145741722, 145741793, 145741988-145742006, 145742011-145742012, 145742055, 145742071, 145742498-145742506, 145742521-145742529, 145742547, 145742813-145742828, 145742839-145742841, 145742844-145742857, 145742998-145743019, 145743112-145743168
786DOCK890.952539682539682996300390511-390512, 396785-396813, 396855-396861, 396875-396904, 396912-396933, 399146-399150, 399168-399179, 399219-399259, 404918-404956, 404980-404988, 405015-405039, 406930-406935, 406940, 406998-407058, 452050-452059
787VLDLR90.975972540045776326222622192-2622251, 2622262, 2622267-2622268
788KCNV290.996336996337616382718974-2718977, 2718987-2718988
789GLIS390.978875760830655927933937035-3937057, 3937161-3937189, 4118327-4118333
790SLC1A190.972698412698414315754490682-4490686, 4490719-4490756
791JAK290.996763754045311133995022083, 5044498, 5044512, 5064940-5064941, 5069091-5069095, 5069108
792GLDC90.9160953313744725730636620244, 6644622-6644652, 6644658-6644671, 6644684-6644687, 6645247-6645280, 6645304-6645343, 6645351-6645422, 6645439-6645499
793CDKN2A90.885350318471345447121974773-21974826
794B4GALT190.999164578111951119733166928
795VCP90.93143329202809166242135057118, 35057199-35057214, 35057454, 35059132-35059133, 35059186, 35059521-35059533, 35059572, 35059704-35059745, 35060499, 35060851-35060854, 35060862-35060866, 35061094-35061100, 35062252-35062255, 35063030, 35063033, 35063037, 35064152, 35064193-35064194, 35065265, 35065335-35065371, 35066710-35066716, 35066760, 35066763-35066765, 35066784-35066792, 35066795, 35068288-35068289, 35072336
796FANCG90.9593365436062176186935074121, 35074409-35074413, 35075475, 35075508, 35075725-35075751, 35076013-35076025, 35076794, 35077021, 35078147-35078153, 35078242-35078254, 35078335-35078338, 35079217-35079218
797NPR290.999363867684482314435792414, 35792423
798GNE90.994694960212212226236233917-36233921, 36234127-36234129, 36249298-36249300, 36249303
799FXN90.99526066350711363371687596-71687598
800TMC190.92466053438458172228375309513-75309569, 75309579-75309588, 75309597, 75309600-75309606, 75309613, 75315434-75315436, 75315462-75315553, 75403363
801TRPM690.9878068874608774606977411689-77411695, 77411804, 77416925, 77418737-77418739, 77418746, 77422961, 77442710, 77442718, 77442729-77442732, 77442795-77442798, 77442838, 77454949-77454997
802VPS13A90.9979002624671920952579931199-79931218
803ROR290.9657485875706297283294712149-94712245
804FBP190.988200589970512101797382644-97382653, 97382747, 97401435
805PTCH190.999079189686924434498270560, 98270593-98270595
806FOXE190.9928698752228281122100616700-100616707
807TGFBR190.93849206349206931512101867489, 101867500, 101867508, 101867538-101867540, 101867551-101867555, 101867560, 101904980-101904985, 101907093-101907122, 101908784-101908805, 101908820-101908821, 101908842, 101908848, 101908852-101908862, 101909974-101909981
808INVS90.93902439024391953198102988351-102988377, 102988403-102988429, 102988505-102988517, 103027160-103027170, 103046698-103046700, 103046714-103046726, 103046752-103046763, 103046818-103046824, 103054619-103054622, 103054661-103054665, 103054701-103054728, 103054839-103054841, 103054942-103054944, 103054949-103054951, 103054957-103054960, 103055008-103055014, 103055071-103055081, 103055141-103055142, 103055237-103055246, 103055293, 103055300
809BAAT90.9984089101034221257104130515, 104133516
810ABCA190.9995579133510236786107620896, 107620902-107620903
811FKTN90.999278499278511386108366734
812IKBKAP90.9987496874218653999111692078-111692082
813MUSK90.999233716475122610113457784-113457785
814DFNB3190.999632892804712724117266988
815CDK5RAP290.9998240056318215682123202101
816NR5A190.97835497835498301386127262873, 127265414-127265426, 127265438-127265443, 127265468-127265475, 127265488, 127265498
817LMX1B90.998212689901721119129458573-129458574
818ENG90.9959534648457381977130616585-130616592
819GLE190.932284215546021422097131267139-131267143, 131267150, 131284971, 131285038-131285042, 131285089, 131285871-131285874, 131285930-131285931, 131285985-131286003, 131286052-131286084, 131287500, 131287506, 131287510, 131287560-131287583, 131287647-131287688, 131295826-131295827
820POMT190.99540863177227102178134382760, 134382846, 134390903-134390904, 134394290, 134394829-134394833
821SETX90.985312422205631188034135139870, 135139882, 135139888, 135139901, 135173585-135173591, 135173632, 135202230, 135202436-135202453, 135202611-135202612, 135202638, 135202805-135202808, 135202880-135202882, 135204336-135204348, 135204363, 135204904, 135205128-135205129, 135205426, 135218151-135218159, 135221753-135221782, 135224721-135224733, 135224802-135224808
822TSC190.98054363376252683495135771887-135771899, 135771988-135772009, 135772571-135772573, 135772821-135772825, 135772902-135772903, 135779052-135779065, 135781007-135781008, 135781195-135781196, 135781286-135781289, 135782176
823CEL90.846323205636283492271135944583-135944589, 135945985-135946018, 135946603-135946607, 135946611-135946613, 135946631-135946925, 135946953, 135946972-135946975
824SURF190.86932447397564118903136221754, 136221757-136221763, 136221769-136221770, 136221775, 136221790-136221802, 136223124-136223174, 136223276-136223304, 136223316-136223329
825ADAMTS1390.881886087768445064284136290655-136290661, 136290672, 136291063, 136291066-136291069, 136291097-136291111, 136291319-136291344, 136291361, 136291384-136291409, 136291428, 136291450-136291459, 136293754-136293777, 136293784-136293846, 136293867-136293881, 136293890-136293891, 136295059-136295215, 136298527-136298535, 136298574-136298577, 136298634, 136298793-136298813, 136301969-136301988, 136302011-136302022, 136302869-136302873, 136304487-136304492, 136308535, 136308585, 136310027-136310029, 136310147-136310157, 136310834-136310867, 136310897, 136310919-136310925, 136313736-136313742, 136313747-136313748, 136320721-136320725, 136321755-136321757
826SARDH90.850562205295614122757136531857-136531902, 136531925-136531992, 136535706-136535874, 136536657-136536681, 136536708-136536738, 136536744-136536763, 136559479, 136568040, 136568045-136568062, 136568090, 136568103-136568108, 136568135, 136570088, 136573412, 136578191-136578193, 136578240, 136599057-136599067, 136599285-136599292
827COL5A190.957585644371942345517137534034-137534045, 137534067-137534074, 137534083-137534129, 137582758-137582771, 137582814-137582925, 137591768-137591769, 137593036-137593043, 137593113-137593130, 137593137-137593145, 137593172, 137593177-137593179
828LHX390.810587262200172291209139089242-139089252, 139089278-139089280, 139089337-139089340, 139089396-139089398, 139089405, 139089409, 139089546-139089555, 139090524-139090527, 139090633, 139090651-139090654, 139090772-139090812, 139090817-139090824, 139090830-139090864, 139090882-139090905, 139091594, 139091701-139091704, 139094792-139094850, 139094866-139094880
829INPP5E90.3627906976744212331935139324852, 139325483-139325519, 139326276-139326295, 139326302-139326310, 139326323-139326369, 139326391-139326407, 139326431-139326437, 139326931, 139326944-139326945, 139326956-139327038, 139327427-139327447, 139327496-139327527, 139327633, 139327664-139327686, 139327705, 139327716-139327731, 139328501-139328505, 139328510-139328511, 139328514-139328516, 139328519-139328522, 139328544, 139328571-139328586, 139329198-139329302, 139329306-139329315, 139333060-139333097, 139333112-139333351, 139333364-139333676, 139333694-139333871
830NOTCH190.7040949400104322697668139390523-139390533, 139390574-139390575, 139390579-139390634, 139390638, 139390648, 139390800, 139390813-139390815, 139390826-139390827, 139390837-139390964, 139390993-139391012, 139391031-139391046, 139391068, 139391141-139391146, 139391150, 139391178, 139391214-139391238, 139391249-139391276, 139391292-139391293, 139391302-139391354, 139391371, 139391379-139391381, 139391396-139391397, 139391424-139391464, 139391476-139391566, 139391577-139391586, 139391590-139391594, 139391621-139391623, 139391627-139391628, 139391636, 139391664, 139391681-139391689, 139391715-139391751, 139391774-139391808, 139391848-139391861, 139391873, 139391888-139391890, 139391895, 139391909, 139391926-139391954, 139391965-139392009, 139393406, 139393660-139393678, 139393702, 139395012-139395043, 139395087-139395140, 139395152-139395165, 139395205-139395214, 139395220-139395222, 139395239-139395284, 139396207-139396215, 139396256, 139396266-139396291, 139396294, 139396299-139396312, 139396358-139396365, 139396453-139396476, 139396492-139396511, 139396740-139396750, 139396830, 139396862-139396863, 139396883, 139396911-139396918, 139396935, 139397748, 139399137, 139399166-139399197, 139399253, 139399263, 139399269, 139399305, 139399308-139399312, 139399315, 139399354, 139399386-139399406, 139399777, 139399852-139399854, 139399868-139399870, 139399873-139399876, 139399921, 139399924, 139400006-139400033, 139400035-139400036, 139400168-139400211, 139400215-139400216, 139400255-139400256, 139400277, 139400324-139400326, 139400329-139400333, 139401000-139401014, 139401055-139401083, 139401175-139401182, 139402513-139402528, 139402546, 139402708-139402721, 139402727, 139402797-139402810, 139403323, 139403331-139403350, 139403406, 139403419-139403434, 139403437, 139403449-139403451, 139403470, 139404341, 139404344, 139407498-139407514, 139407540-139407547, 139407551-139407555, 139407844-139407857, 139407866-139407867, 139407871-139407872, 139407970, 139407982, 139409061, 139409760, 139409776, 139409788, 139409802-139409806, 139409809-139409816, 139410007-139410028, 139410075, 139410095, 139410135, 139410441-139410442, 139411726-139411728, 139411731-139411741, 139411768-139411795, 139411813-139411825, 139411834-139411837, 139412204-139412207, 139412299-139412302, 139412311-139412354, 139412371-139412384, 139412631, 139412655-139412659, 139412665, 139412671-139412672, 139412708-139412726, 139412730-139412737, 139413063-139413085, 139413148-139413163, 139413167-139413182, 139413904-139413934, 139417302-139417379, 139417395-139417640, 139418169-139418379, 139418392-139418431, 139440178-139440207, 139440225-139440238
831AGPAT290.84109916367981133837139581636-139581671, 139581675-139581678, 139581692-139581698, 139581714, 139581725-139581809
832SLC34A390.9983333333333331800140128333, 140128619-140128620
833EHMT190.9933282011804263897140513481-140513497, 140611215-140611222, 140622946
834SHOXX0.50625711035267434879591633-591909, 595390-595412, 595453-595483, 595493-595548, 601560-601561, 601758, 605256-605299
835CSF2RAX0.3218390804597788513051401597-1401650, 1401659, 1404671-1404800, 1407413-1407468, 1407504-1407535, 1407652-1407669, 1407686-1407688, 1407692-1407738, 1407759, 1407762-1407781, 1409230-1409237, 1409250, 1409263-1409270, 1409295-1409349, 1409358, 1409363, 1409367-1409402, 1413221-1413236, 1413248-1413299, 1413310-1413354, 1414320-1414349, 1419384-1419433, 1419444-1419519, 1422154-1422160, 1422177, 1422185-1422207, 1422216, 1422222-1422246, 1422868, 1422873-1422882, 1422896-1422912, 1424339-1424354, 1424366-1424408
836NLGN4XX0.99959200326397124515811180
837KAL1X0.9990210474792220438699943-8699944
838SMSX0.9582198001816546110121958946-21958991
839PHEXX0.998222222222224225022186471-22186474
840ARXX0.74600355239787429168925022821-25022850, 25022910-25022916, 25025296-25025299, 25025356-25025358, 25025367-25025379, 25025549-25025551, 25031179-25031185, 25031225, 25031228-25031245, 25031272-25031279, 25031385-25031386, 25031425-25031458, 25031522-25031623, 25031647-25031736, 25031746, 25031757, 25031768-25031771, 25031774-25031776, 25031779-25031780, 25031783-25031832, 25031858-25031861, 25031878-25031915, 25033745, 25033827-25033829
841IL1RAPL1X0.998087039693934209129417409-29417412
842GKX0.9651022864019358166230718968-30718972, 30737536, 30737582-30737600, 30737625-30737632, 30738140-30738144, 30738180-30738192, 30739039-30739045
843DMDX0.99574968348707471105831144759-31144767, 31164432-31164436, 31525418-31525427, 32466697-32466699, 32481683-32481686, 32503129-32503144
844RPGRX0.73576178086152914345938144899, 38144903-38144916, 38144939-38144969, 38145021, 38145039-38145079, 38145123-38145165, 38145209-38145220, 38145278-38145750, 38145759, 38145769-38145911, 38145943-38145959, 38145966-38145967, 38145973-38145974, 38145999-38146042, 38146081-38146083, 38146109-38146117, 38146173-38146189, 38146359-38146391, 38146458-38146464, 38146489-38146498, 38163925-38163934
845TSPAN7X0.99066666666667775038420800-38420806
846NYXX0.9806362378976528144641332895-41332896, 41333097-41333107, 41333229-41333237, 41333376-41333381
847CASKX0.9812002892263252276641390359, 41390394-41390398, 41393963-41393966, 41394012-41394014, 41394200, 41401957-41401989, 41413045-41413049
848MAOAX0.9551767676767771158443515631-43515635, 43542844-43542855, 43552651, 43571199-43571223, 43571952-43571964, 43571994-43572008
849FTSJ1X0.99494949494949599048341163-48341167
850SYPX0.987261146496821294249048087-49048098
851CLCN5X0.9877600979192230245149834662, 49834665-49834667, 49846423-49846428, 49851501-49851509, 49851512-49851513, 49853480-49853482, 49853496-49853497, 49855028-49855031
852BMP15X0.998299319727892117650659122-50659123
853FGD1X0.95252945252945137288654482976-54482979, 54521559-54521562, 54521588-54521589, 54521635-54521685, 54521698-54521701, 54521765-54521818, 54521843-54521860
854ARX0.9913137893593924276366765158-66765179, 66765182, 66765185
855MED12X0.999540863177233653470361098-70361100
856GJB1X0.977699530516431985270444334-70444335, 70444366-70444382
857TAF1X0.9899683210137357568270586179-70586232, 70586333, 70607249, 70621539
858SLC16A2X0.94462540716612102184273641313-73641321, 73641355-73641426, 73641622-73641623, 73641721-73641738, 73641743
859ABCB7X0.9761273209549154226274332739-74332773, 74334610-74334627, 74334653
860ATRXX0.998796630565589747976763906, 77041468-77041475
861TIMM8AX0.996598639455781294100603552
862BTKX0.9954545454545591980100608263-100608264, 100608270, 100608274-100608277, 100609651-100609652
863ACSL4X0.9971910112359662136108906519-108906524
864CUL4BX0.9989059080962832742119694117-119694119
865XIAPX0.867469879518071981494123019513-123019516, 123019623-123019687, 123019690, 123019745-123019750, 123019921-123019930, 123019991, 123019995-123019997, 123020010-123020012, 123020023-123020029, 123020041-123020043, 123020093-123020126, 123020158-123020172, 123020201, 123020204-123020207, 123020238-123020254, 123020288-123020291, 123020296, 123020388-123020389, 123025100-123025112, 123025124, 123025164-123025166
866GPC3X0.98795180722892211743133119456-133119476
867SLC9A6X0.99240265906933162106135067709-135067711, 135081026-135081029, 135095209-135095213, 135095561-135095564
868FHL1X0.9012345679012396972135288599-135288609, 135289252, 135289271-135289283, 135289311, 135290666-135290712, 135291483-135291491, 135291531-135291537, 135292047, 135292091-135292096
869CD40LGX0.9732824427480921786135732438-135732447, 135732498-135732508
870ARHGEF6X0.99399399399399142331135760102-135760115
871ZIC3X0.96367521367521511404136651079-136651106, 136651114-136651136
872SOX3X0.96569724086503461341139586145-139586150, 139586460-139586464, 139586472-139586498, 139586501, 139586689-139586695
873FMR1X0.906793048973141771899147003464-147003495, 147010315-147010317, 147013984-147014004, 147014232-147014238, 147019632-147019641, 147022117-147022124, 147026398-147026411, 147026443-147026461, 147027054-147027111, 147030242-147030246
874AFF2X0.99237804878049303936147919171-147919172, 147924906-147924909, 148035225, 148037270-148037271, 148037554-148037557, 148037714-148037730
875FAM58AX0.98911564625858735152864487, 152864508-152864514
876SLC6A8X0.958071278826801908152954066-152954073, 152954105-152954108, 152954117-152954155, 152954184-152954212
877ABCD1X0.944593386952641242238152990867-152990886, 152990897, 152990911-152990944, 152991022-152991030, 152991192-152991193, 152991221-152991232, 152991237, 152991245-152991246, 152991410-152991411, 152991419, 152991486-152991494, 152991497, 152991549-152991553, 153001569-153001570, 153001621, 153001625-153001642, 153008675-153008678
878MECP2X0.99131596526386131497153363082-153363094
879OPN1LWX0.93150684931507751095153416311-153416350, 153418521-153418544, 153421909-153421919
880OPN1MWX0.93972602739726661095153453490-153453496, 153455651-153455668, 153459043-153459083
881OPN1MWX0.97077625570776321095153490608-153490614, 153492769-153492786, 153496161-153496167
882TAZX0.992395437262366789153640204-153640207, 153640517-153640518
883GDI1X0.998511904761921344153670744-153670745
884G6PDX0.98778998778999201638153760275-153760280, 153762614-153762627
885F8X0.968537414965992227056154157150, 154157178-154157182, 154157264-154157270, 154157443-154157449, 154157483-154157486, 154157654-154157660, 154157802-154157816, 154158035-154158036, 154158128-154158143, 154158334-154158347, 154158373-154158387, 154158465-154158487, 154158891-154158899, 154158965-154158995, 154159126-154159132, 154159306-154159322, 154159615-154159627, 154159852-154159873, 154197683-154197689
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3TLR4-D299Ghomozygous0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
3TLR4-T399Ihomozygous0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5LRRK2-R1441Chet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5EDNRB-G57Shet unknown0.007Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SEMA4A-R713Qhet unknown0.037Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2DCTN1-T1249Ihet unknown0.003Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5COMT-V158Mhomozygous0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1USH2A-R5031Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-E2238Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-G550GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MYH14-F1511YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-A442Ghet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-M637Thet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-DM13ALhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCN5A-H558Rhomozygous0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GYS2-T631RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PKP2-L366Phomozygous0.221Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKP2-S70Ihet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-N348Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TACC2-V170Ihet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-L830Fhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-A1066Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TACC2-A1425Thet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TACC2-E1916Khet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
1TACC2-T2482Mhomozygous0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLX4-A1221Vhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SLX4-P1122Lhomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1SLX4-A952Mhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-L671Shomozygous0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-N457Khomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-M386Vhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SLX4-R204Chomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-G998Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-E672Qhet unknown0.024Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-Q559Rhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-A350Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYBA-Y72Hhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C17orf77-C207*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1GBA-L483Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GBA-E365Khet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1CACNA1S-L458Hhomozygous0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TNXB-W458ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1EPN3-R170Hhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-R136Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSD3B1-R71Ihomozygous0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
1LAMC2-D247Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TRAP1-R692Hhomozygous0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
1TRAP1-Y444Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRAP1-R307Ghomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TRAP1-S259LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-Y238Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_028064-G139ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IRAK3-H57Rhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1IRAK3-I147Vhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KIAA0196-K541Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1KIAA0196-I538Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1RGPD4-E824KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RGPD4-Q1169Rhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RGPD4-T1410Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VEZT-V496Ihomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
1VEZT-G762Dhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KIAA0649-R381Lhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AGXT-P11Lhomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AGXT-I340Mhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SACS-P3678Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SACS-N1489Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SCML2-T20ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RPGR-E779ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1RPGR-G566Ehomozygous0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1RPGR-T533Mhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RPGR-Q527Delhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RPGR-R425Khomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1GKN2-D65Yhomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.75FBN2-F2554Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75FBN2-R347Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CHRNA5-V134Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75HBZ-E7*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75HBZ-R8Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625COL1A1-G194Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625NOTCH3-H1133Qhet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625NOTCH3-C43Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5GADD45GIP1-K127Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5AGRN-E728Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-V476Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM98C-A64Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM98C-T240Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.485 (possibly damaging)
0.5FAM98C-K349KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF101-H127Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LHCGR-N312Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-T400Khet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC2-G921Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V103Mhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C19orf26-R402Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C19orf26-H365Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C19orf26-V50Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR10V1-Q123Rhomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-V117Ahet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2C8-I264Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.951 (probably damaging)
0.5OXER1-L407Vhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.931 (probably damaging)
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5ANO5-Q190Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ANO5-L322Fhomozygous0.447Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-M1352Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1520Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAIR2-R76*het unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAIR2-H112Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MCEE-A76Vhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAHD2B-R200Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAHD2B-W93Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-L525Shifthet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-L525Shifthet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPT10-E156Khet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5KNDC1-A128Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5KNDC1-S155Ghet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-R156Qhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-C603Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KNDC1-L717Phomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNDC1-V806Dhet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5AKT1S1-L175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AKT1S1-T166Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A12-R473Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP2-C4381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-R4127Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GFRA1-Y85Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTN-I32964Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V30790Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S29107Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23846Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T23304Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N23184Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-Y22998Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R17129Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K15140Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R12902Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-H11456Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R3598Khet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S2831Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-M2610Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R1572Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-V673Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-T25Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DAPL1-L60Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.5DAPL1-R105*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CIB4-H181Rhet unknown0.506Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CIB4-K101Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CEACAM16-L55Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-E49Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GIF-Q23Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SPG11-D566Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PACS2-P714Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT1-K633Rhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINA9-V348Ahet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-R310Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-H254Qhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-P236Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TDRD9-A956*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TDRD9-F958Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-S54Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027242-N339Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NOXO1-R39Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5VASN-R161Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5VASN-E384Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.172 (benign)
0.5BLM-P868Lhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-V363Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A1-V189Ihomozygous0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BIN2-A70Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-K231Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S873Nhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PABPC3-R89Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PABPC3-D90Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-Q172Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-E178Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PABPC3-A181Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5PABPC3-P191Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-I195Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5PABPC3-RL206HFhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-RQTEL272Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R278Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M326Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-E345*het unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PABPC3-E372Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-R374Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PABPC3-M579Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GJB2-R127Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDX54-P822Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM132C-H49Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-V332Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-T618Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM132C-G698Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132C-R806Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARL11-C148Rhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.153 (benign)
0.5ARL11-W149*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-E4913Khet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.251 (possibly damaging), Testable gene in GeneTests
0.5MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ZFYVE26-N1891Shet unknown0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-A1122Vhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-P1103Lhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests
0.5ZFYVE26-M1067Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-K435Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC1-R723Qhet unknown0.010Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARSG-T444Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC4A3-S666Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC4A3-L1037Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRIM37-TSNT543SSDAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIM37-NE90K*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R921Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-S706Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-P682Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-F672Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-P641Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R619Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R544Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R533Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-G472Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-E457Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-R377Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHM1-Y349Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLX4-N44Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-R162Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSEN54-H38Qhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-S443Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FECH-R102Qhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5PCNXL3-Q258Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNXL3-R1917Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC87-L738Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC2-P231Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5TXNDC2-P234Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCL14-S25Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5CES1-F6Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.24 (possibly damaging)
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R913Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-N130Dhomozygous0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-P1182Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM5-P126Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SH2B1-T484Ahomozygous0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOC2A-P392Ahet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5DOC2A-G48Shet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-M4551Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-S4362Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T3115Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2529Ehet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2522REEAERhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R2017Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5SPSB2-R236Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.875 (probably damaging)
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSH2-G1398Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP6-W475Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-L639Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP6-N640Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-R641Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-V642Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP6-R912Qhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5PLCG2-M28Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZFPM1-Q296Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FANCA-T1328Ahet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-C1879Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-V1748Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-D1513Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DEFB128-H62Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB128-K27Nhet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRPL50-L127Fhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-A173Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AQP7-G264Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SPAG17-T1590Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPAG17-P1348Lhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5TRIM10-R267Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R658Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-R809*het unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CROCC-R855Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-L874LGRVAREKEALhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFKBIE-V194Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NFKBIE-P175Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1586-F75Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-R4037Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A516Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-Q407Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5DENND4C-I5Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5DENND4C-G754Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MOCS1-R439Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA9-M1Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ANXA9-D166Ghet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BSDC1-I234Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-V455Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQGAP2-D527Ehomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-K532Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-L629Fhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQGAP2-I724Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1428Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G2045Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA6-ND153SNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-N170Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-R173Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-E194Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-L198Fhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.946 (probably damaging)
0.5HSPA6-V336Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-S342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSPA6-G447Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HSPA6-S464Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA6-R471Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-K2192Qhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-T938Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q594Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-P753Shomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN1-A717Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-A19Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SAMD9L-G1137Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GTF2I-N440Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5MBLAC1-S43Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-P3Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-K170Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ORC5-H344Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM67-D261Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA2-P564Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LAMA2-G1584Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RTCD1-F349*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RTCD1-V351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRHL3-T454Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL20RA-V259Ihomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IL20RA-S177Yhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR15-P115Shet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5PRR15-P124Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC18-L2525Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-P2393Lhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNRC18-A1927Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TNRC18-S1925Whet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5TNRC18-N1676Dhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-A1267Ghet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.469 (possibly damaging)
0.5TNRC18-Q707Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNRC18-S579Phomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-P103Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5TM7SF4-L397Fhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-S36Phomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-TRRTTT1479Delhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC30A8-R325Whomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5REXO4-T283Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC116-R199Whet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CCDC116-R325Chomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.805 (possibly damaging)
0.5CCDC116-C519Rhet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GGT1-I93Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHEK2-E493Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHEK2-Y488Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-M25Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HIC2-P362Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CD99-D165Nhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.547 (possibly damaging)
0.5CD99-M166Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.194 (benign)
0.5CD99-N173Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5GAB4-W206Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAB4-G163*het unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COBRA1-L40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COBRA1-S43*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC5A1-A411Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P57Shet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ISX-R83Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5BDP1-D38Ehomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-S213Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BDP1-I1264Mhomozygous0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-Q1676Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5RNF123-R387Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5RNF123-R854Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CELSR1-T2268Ahet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CELSR1-I2107Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-L1995Phet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-L1994Phet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-C1126Rhet unknown0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CELSR1-S664Whet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.5CELSR1-L556Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SH3BP1-Q579Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SH3BP1-Q603Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-T397Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S402Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-Q483Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
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-E1372Dhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5TRIOBP-T1480Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EDARADD-M9Ihet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-S103Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASXL1-Q427Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASXL1-G645Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASXL1-L814Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F8-D1260Ehomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-M236Vhomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5EFHD1-A31Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EFHD1-K186Rhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RASAL1-R321Hhet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5SLC19A1-H27Rhomozygous0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5EXO1-N279Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EXO1-H354Rhet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.119 (benign)
0.5EXO1-E589Khet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5EXO1-E670Ghomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5EXO1-R723Chomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ADARB2-A626Thomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ADARB2-A44Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-V368Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANO10-R462Qhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CFHR2-C72Yhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5DMP1-K447Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG2-V12Mhet unknown0.045Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRAMEF2-V67Ghet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-T72Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5PRAMEF2-L73Fhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5PRAMEF2-L105*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRAMEF2-E110Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5PRAMEF2-F444Vhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TOR1AIP1-M146Thet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TOR1AIP1-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-D38Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANK2-S3300Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM160A1-P994Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCHS2-H2633Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DCHS2-K2475Rhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DCHS2-E1595Khet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5DCHS2-E1595Khet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5DCHS2-T1480Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-N897Shet unknown0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BMP3-Y67Nhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5BMP3-R192Qhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.334 (possibly damaging)
0.5BMP3-L205Fhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.17 (benign)
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5CCDC39-T182Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TTF1-A290Shet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHP3-R397Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EIF2B5-I587Vhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-H33Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-R105Qhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-V454Ihet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPN2-V536Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-Q509Rhomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-A305Thomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-P1948Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-T544TKEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375ATXN7-V125Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PLD1-G237Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MAPT-A90Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-D89Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25MYOM3-K724Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYOM3-D528Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NACA-G899Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NACA-F405Shomozygous0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NACA-V336Ehomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AL157420-F154Shifthet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AL157420-F154Shifthet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25B4GALNT1-L89Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25B4GALNT1-L35Vhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TIMELESS-P1018Lhomozygous0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25TIMELESS-A787Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UBR4-M4867Lhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25UBR4-M2803Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UBR4-T1107Ahet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.14 (benign)
0.25UBE4B-H713Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UBE4B-Q1075Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGA7-R655Hhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA7-R291Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25CLCNKA-R83Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25MUC5AC-W1342Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC5AC-P2018Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-P2582Lhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-F3655Shomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-A3672Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PNPLA2-G124Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA2-L481Phet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM80-S51Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM80-G52Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25C1orf49-G169Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf49-L171RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CEP350-E945Qhomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.25CEP350-E3069Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZC3H11A-L801Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZC3H11A-S805*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLAU-L141Phomozygous0.842Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLAU-S204Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DKK1-H252Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DKK1-H252Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DKK1-A254Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-R934Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC29A3-V239Ihet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25FAM35A-E551Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM35A-T606Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DISC1-T198Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DISC1-S704Chet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.25LIPA-G23Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C1orf112-A253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf112-A481Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HIVEP3-T2338Ahomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-D2109Ahomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-A2023Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-H575Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HIVEP3-K82Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXD2-E38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXD2-A368Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TUBA1A-C136Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TUBA1A-W137Rhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1324-C278Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1324-T623Phomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1324-L1009Phomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUS81-C74*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MUS81-R180Phomozygous0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25GUCY1A2-DL492EVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GUCY1A2-K488Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25CEP164-S94Nhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CEP164-K128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CEP164-Q1119Rhet unknown0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOK7-T137Ihet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EVC-T449Khet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCDHB10-T213Rhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.885 (probably damaging)
0.25PCDHB10-R543Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDHR2-V424Ahomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR2-W863*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TCF7-H40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCF7-Q239Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2-E534Khet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HEXB-L62Shet unknown0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.25VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF732-SK461NEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF732-Y459Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF732-A458Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF732-W456*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADAMTS1-I727Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADAMTS1-A227Phomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNFX1-T1351Ihomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNFX1-T1249Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNFX1-Q924Hhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FER1L4-K526Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-H326Rhomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-G305Rhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-E242Dhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FER1L4-V182Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-S890Lhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCT8L2-W320Rhomozygous0.935Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCT8L2-L180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NAALADL2-G68Shomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAALADL2-I128Mhomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAALADL2-M194Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25NAALADL2-P385Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAALADL2-P622Rhomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.797 (possibly damaging)
0.25NAALADL2-Q671*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NAALADL2-L677Shomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25TRMU-A10Shet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25MKL1-S859Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MKL1-S648Ghet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MKL1-A396Thet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCF20-S722Ghet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-R570Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RREB1-H230HMETHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RREB1-A380Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RREB1-D1171Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AL137446-L281Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AL137446-E326VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AL137446-R372PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25RANBP6-K578*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RANBP6-A3Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf73-C677Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C8orf73-A619Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf73-T134Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf73-V132AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf73-H97Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPINK4-V7Ihet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Frameshift
0.25SPINK4-V7Ihet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Frameshift
0.25NM_001141917-M499Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_001141917-F352Shet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_001141917-T238Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_001141917-L149Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001141917-R69Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SURF6-T175Mhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SURF6-R163Whet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SURF6-K47Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25ZNF462-Q1103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF462-N1828Shomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25FAM75C1-I304Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-G336Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-R350Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-R409Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-G587Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-L712Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-E1024Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM75C1-Q1141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WNK2-H758Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WNK2-V828Mhomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WNK2-E1856Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JHDM1D-G917Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25JHDM1D-R644Shet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BC107113-I84Thet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC107113-D186Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-D184Ehet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-I186Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VARS2-W113*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25VARS2-W449Rhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VARS2-V680Lhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.715 (possibly damaging)
0.25VARS2-A965Thet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25VARS2-R1049Qhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB4-R652Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP3A7-R409Thet unknown0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK4-V1914Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DOCK4-L1876Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001039576-D8Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_001039576-P59Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_001039576-Q141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_001039576-R143Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA1244-G32Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KIAA1244-S1991Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BPTF-E521Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BPTF-A2692Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25DVL2-S709Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DVL2-P699Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DVL2-E213Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RPA1-E363Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RPA1-G541Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A1739Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-D1203Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1042Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R1040*het unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G785Chet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V183Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IRX3-L422Phomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IRX3-L397Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IRX3-E236Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-K1107Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLSCR3-V293Ihet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLSCR3-L243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BZRAP1-D1762Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BZRAP1-H1728Rhomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25BZRAP1-A1140Phomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BZRAP1-H1118Lhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.616 (possibly damaging)
0.25BZRAP1-W851Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BZRAP1-Q817Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KSR1-A85Vhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KSR1-P155Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NTAN1-N297Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NTAN1-S287Phet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NTAN1-H283Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZIC5-E405KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZIC5-C398Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZC3H13-T1238Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZC3H13-E138Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLYR1-H459Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GLYR1-R381Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SORD-A253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SORD-N269Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC12A1-A390Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25SLC12A1-V958Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XYLT2-W33Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25XYLT2-R305Thet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XYLT2-G529Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25XYLT2-T801Rhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASKIN2-E891Ghomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASKIN2-Q728Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCAF1-T420Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCAF1-T1181Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83E-H334Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25CEBPZ-D477Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CEBPZ-V102Ihet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGAV-L562Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGAV-V783Ihomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25NAT8B-G111Ahomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT8B-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NAT8B-R22Ghomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D8-R1079Ghomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TBC1D8-W667Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF880-H498Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF880-N523Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF880-S530Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIRT6-S46Nhomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIRT6-E28Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-R279Khet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SETBP1-P1130Thet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.25SETBP1-SP1492RThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SETBP1-A1499Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSG4-I644Lhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DSG4-D976Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCTD1-V567Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCTD1-Q70Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25AL832652-N1131Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AL832652-V168LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25C19orf46-Q278HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C19orf46-A36Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBN3-E2610Dhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-P1958Hhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-L1904Fhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-S1293Ghomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-D868Nhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN3-L602Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBN3-P329Lhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0PDX1-L73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0OCA2-A55Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MSH6-F1088Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0SHANK3-A1243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MYCN-N108Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0RAI1-Q1035Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0NF1-Q1360Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,696,526,723 bases (94.3% of callable positions, 87.5% of total positions)

Coding region coverage: 31,883,334 bases (95.8% of all genes, 96.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in