hu50B3F5 - GET-Evidence variant report

Variant report for hu50B3F5

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1C3-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
2MTRR-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
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4RPGRIP1L-A229TLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0561443This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.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
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
9TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
11ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
12BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
13CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
14SP110-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
15CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
16rs1544410LowUncertainUncertain pharmacogenetic

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

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

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19KCNJ11-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
20IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
22MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
23LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
25NEFL-S472ShiftLowLikelyLikely benign

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

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
27KRT85-R78HLowUncertainUncertain benign

Recessive, Homozygous
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
28FKTN-N446DLowUncertainUncertain benign

Unknown, Heterozygous
0.00901654Probably benign.1
29VCAN-T689ALowUncertainUncertain benign

Unknown, Heterozygous
0.00644137Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.1
30MAPT-Q230RLowUncertainUncertain benign

Unknown, Heterozygous
0.0420019Common polymorphism.1
31TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
34PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
35PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
36RP1-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
37SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
38TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
39TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
40F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
41HR-T1022ALowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0969511Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31763037 / 33212919 = 95.63%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.4537308569566633536138955553-955753, 957607-957641, 957670-957727, 957729-957737, 957753-957765, 957784-957841, 970657-970672, 970685-970704, 976060, 976072-976260, 976553-976761, 976769-976777, 976858-976861, 976867-976916, 976959-976988, 977018-977025, 977056-977082, 977409-977423, 977431, 977455, 977475-977483, 977492-977509, 977512-977522, 978642-978660, 978667-978669, 978679-978782, 978791-978797, 978824, 978830-978831, 978918-978926, 978938-978955, 978987-979068, 979087-979104, 979203-979210, 979232, 979235-979236, 979241, 979247-979250, 979255-979258, 979288-979331, 979351-979403, 979489-979496, 979505, 979516, 979523, 979559-979562, 979565-979576, 979627, 979714-979742, 979772-979775, 979803, 980559-980562, 980585-980611, 980626-980628, 980788-980800, 980807-980811, 981205-981232, 981345, 981355-981357, 981385, 981404, 981457, 981543-981545, 981552-981558, 981563-981575, 981593-981620, 981636-981645, 981777-981802, 981816-981909, 981915-981989, 982020, 982023-982036, 982040, 982046-982047, 982064, 982085-982087, 982112-982115, 982200-982295, 982309-982314, 982319-982330, 982707-982710, 982717-982751, 982811, 982957-982994, 983024, 983060-983067, 983158-983166, 983171, 983174-983217, 983224, 983248-983251, 983392-983428, 983446-983517, 983525-983542, 983557-983571, 983592-983735, 984247-984439, 984616-984810, 984820-984831, 984992-985028, 985044-985048, 985099-985107, 985116-985123, 985134-985135, 985142, 985152-985175, 985283-985371, 985390-985400, 985416-985417, 985613-985618, 985622, 985654-985658, 985684-985699, 985703, 985706, 985807-985815, 985837-985840, 985876-985877, 985964-985971, 986106-986112, 986138, 986141, 986193, 986197-986217, 986633, 986636-986639, 986671-986702, 986709-986740, 986833-986906, 986913-986919, 986949-986975, 986989-987003, 987109-987137, 987166, 987180-987195, 989141-989142, 989253-989260, 989305, 989891, 990230-990234, 990245-990321
2GABRD10.7108167770419439313591950863-1950930, 1956424, 1956805-1956820, 1957029, 1957037, 1959016-1959017, 1959594-1959617, 1959677-1959718, 1960550-1960569, 1960640-1960641, 1960658-1960694, 1960990-1960991, 1961002-1961024, 1961058-1961080, 1961098-1961107, 1961119-1961148, 1961180-1961185, 1961422-1961426, 1961447-1961449, 1961462-1961471, 1961479, 1961553-1961589, 1961628, 1961634, 1961661-1961679, 1961682, 1961708-1961714
3PEX1010.92048929663609789812337923-2337932, 2337938-2337943, 2340007-2340013, 2340270-2340272, 2343830-2343845, 2343850-2343879, 2343904-2343909
4NPHP410.957252978276118342815924445-5924446, 5935066, 6029234, 6029252-6029256, 6038330-6038473, 6046215, 6046223-6046233, 6046264-6046269, 6046330-6046341
5ESPN10.7528265107212563425656485016-6485085, 6485092-6485127, 6485142-6485148, 6485162-6485257, 6485260, 6485280, 6485283-6485297, 6485308, 6488301-6488336, 6488365-6488393, 6488425-6488434, 6500386-6500403, 6500413-6500437, 6500466-6500476, 6500480, 6500485-6500486, 6500702-6500801, 6500834-6500868, 6505847-6505903, 6505914-6505947, 6508885, 6508922-6508928, 6509054-6509078, 6509139-6509145, 6511910, 6512130, 6520199-6520205
6PLEKHG510.984948259642524831896527966-6527973, 6527989, 6530938-6530942, 6531086, 6533405-6533411, 6534123, 6534523-6534532, 6534627-6534637, 6557380-6557383
7KIF1B10.999058912102395531310425556-10425560
8PEX1410.9356261022927773113410535028-10535030, 10535051-10535057, 10684433, 10684438-10684455, 10689767-10689789, 10689834-10689836, 10689971, 10689977, 10690009-10690024
9TARDBP10.9309236947791286124511082322-11082362, 11082530, 11082566-11082609
10MASP210.7627365356623489206111094895-11094917, 11097751, 11097757, 11097831-11097832, 11097837, 11097840-11097841, 11097851, 11102932-11102993, 11103037-11103043, 11103052-11103079, 11103402-11103407, 11103434-11103472, 11103477-11103479, 11103495-11103537, 11103557-11103592, 11105465-11105540, 11105551, 11105583-11105596, 11106613-11106638, 11106659-11106672, 11106701, 11106739-11106745, 11106751-11106752, 11106756-11106758, 11106771, 11106775-11106778, 11106785-11106790, 11106948-11106995, 11107016-11107023, 11107083, 11107086-11107099, 11107169-11107176
11MTHFR10.999492643328261197111863115
12PLOD110.997710622710625218412023679, 12024774, 12030748-12030750
13CLCNKA10.91279069767442180206416349179-16349182, 16351275, 16353092-16353098, 16355687, 16356467-16356478, 16356960-16357001, 16357041-16357068, 16357109-16357136, 16358299-16358300, 16358336-16358338, 16358757-16358784, 16359713-16359724, 16360106-16360117
14CLCNKB10.92587209302326153206416373044-16373050, 16374523-16374526, 16375046, 16375055, 16378701-16378712, 16378716-16378807, 16378816, 16378825-16378834, 16380157-16380163, 16380233-16380237, 16380241-16380243, 16380265, 16382240-16382245, 16382248, 16383368, 16383372
15ATP13A210.9793959920970973354317312767-17312771, 17312776, 17312783, 17313585-17313631, 17320274-17320279, 17322780-17322791, 17326637
16PINK110.9713631156930150174620960225-20960240, 20960243-20960259, 20960268-20960277, 20960325, 20960334-20960339
17ALPL10.999365079365081157521900279
18HSPG210.984365513054042061317622150160, 22151042-22151045, 22165419, 22165899-22165901, 22167658-22167659, 22168547-22168553, 22174533-22174563, 22176652-22176653, 22178148-22178150, 22178153-22178156, 22181419-22181427, 22186143-22186150, 22186422-22186423, 22186426-22186427, 22186433-22186451, 22186477-22186486, 22190601-22190603, 22191560, 22191820, 22191826-22191829, 22192253, 22198779-22198782, 22199141-22199151, 22199520-22199522, 22202528-22202534, 22263648-22263710
19WNT410.9166666666666788105622456149, 22456335-22456344, 22469339-22469415
20HMGCL10.99897750511247197824134728
21FUCA110.9486081370449772140124189722-24189726, 24194419-24194426, 24194628-24194636, 24194689-24194738
22SEPN110.89028776978417183166826126722-26126904
23KCNQ410.9942528735632212208841249766-41249773, 41249853, 41284257-41284259
24CLDN1910.99703703703704267543203963-43203964
25LEPRE110.998190863862514221143232575-43232578
26SLC2A110.99729546991214147943424305-43424307, 43424310
27ORC110.998839907192583258652854254-52854256
28PCSK910.9874939874939926207955505553-55505555, 55521678-55521679, 55521837-55521856, 55524237
29COL11A110.99157045995968465457103363714, 103364236-103364266, 103364497-103364498, 103364534-103364543, 103380288, 103544342
30GSTM110.9238964992389650657110230501-110230531, 110230792-110230796, 110230800-110230801, 110231302, 110232907-110232913, 110232983, 110233089, 110233093, 110233138
31NOTCH210.983144552319311257416120539665-120539714, 120539778-120539784, 120539916, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611989-120612010
32PRPF310.999512670565312052150315914
33FLG10.50123092072871607812186152275631, 152275685-152275728, 152275796, 152275832, 152275915, 152275924, 152276019-152276048, 152276109-152276152, 152276175-152276202, 152276253, 152276273-152276306, 152276361-152276401, 152276421-152276464, 152276487-152276529, 152276556-152276674, 152276696-152276729, 152276757-152276785, 152276791-152276831, 152276845-152276892, 152276904-152276940, 152276991-152276997, 152277011-152277065, 152277072-152277089, 152277097-152277182, 152277216-152277279, 152277285-152277350, 152277356-152277380, 152277393-152277410, 152277428-152277473, 152277509-152277532, 152277539-152277591, 152277606-152277613, 152277649-152277674, 152277693-152277741, 152277787-152277797, 152277806-152277854, 152277868-152277917, 152277963-152278002, 152278013-152278054, 152278083-152278153, 152278210-152278246, 152278262-152278268, 152278303-152278339, 152278385-152278423, 152278471-152278499, 152278545-152278574, 152278591-152278598, 152278612-152278646, 152278664-152278693, 152278759-152278791, 152278806-152278817, 152278841-152278859, 152278873-152278899, 152278935-152278974, 152278985-152279029, 152279055-152279068, 152279081-152279125, 152279168-152279204, 152279275-152279311, 152279357-152279398, 152279443-152279471, 152279508-152279559, 152279566-152279601, 152279612-152279618, 152279675-152279678, 152279712-152279763, 152279778-152279805, 152279820-152279867, 152279889-152279932, 152280025-152280086, 152280140-152280194, 152280236, 152280247-152280290, 152280329-152280389, 152280449-152280475, 152280544-152280562, 152280570-152280656, 152280668-152280703, 152280733-152280762, 152280788, 152280859-152280885, 152280897-152280903, 152280991-152281011, 152281094, 152281225-152281257, 152281287-152281328, 152281442-152281483, 152281518-152281548, 152281559-152281596, 152281621-152281650, 152281670-152281736, 152281747-152281783, 152281793-152281794, 152281836-152281860, 152281872-152281893, 152281908-152281924, 152281942-152281997, 152282006-152282037, 152282065-152282142, 152282159, 152282178, 152282187, 152282196, 152282207, 152282211-152282212, 152282229-152282276, 152282282-152282322, 152282374-152282377, 152282386-152282398, 152282414-152282471, 152282498-152282523, 152282527, 152282531-152282537, 152282551-152282592, 152282672-152282710, 152282718-152282756, 152282763-152282816, 152282824-152282922, 152282939-152282971, 152282980-152282986, 152282994-152283000, 152283073, 152283093-152283129, 152283155, 152283170-152283260, 152283267-152283315, 152283321-152283353, 152283362-152283374, 152283393-152283438, 152283464-152283473, 152283494-152283549, 152283607, 152283621-152283675, 152283689-152283717, 152283739-152283746, 152283798-152283824, 152283843-152283881, 152283888-152283994, 152284003-152284013, 152284029-152284095, 152284112-152284183, 152284193-152284223, 152284229-152284258, 152284266-152284280, 152284294-152284375, 152284409-152284453, 152284461-152284481, 152284492-152284520, 152284542-152284579, 152284592-152284632, 152284669-152284725, 152284802-152284885, 152284908-152284935, 152284946-152284964, 152284970-152285039, 152285056-152285064, 152285099, 152285116-152285165, 152285177-152285248, 152285277-152285330, 152285342-152285373, 152285394-152285428, 152285437-152285474, 152285512-152285540, 152285556-152285588, 152285601-152285645, 152285665-152285666, 152285710, 152285723-152285771, 152285780-152285805, 152285835-152285880, 152285927-152285948, 152285956-152285959, 152285974-152285984, 152286002, 152286011, 152286021-152286026, 152286032, 152286050-152286074, 152286114-152286116, 152286131-152286175, 152286181-152286227, 152286254, 152286266, 152286269, 152286359-152286413, 152286657, 152286695-152286727, 152286735, 152286852, 152286880-152286896, 152286946-152286967, 152287009, 152287012-152287031, 152287833-152287835, 152287895
34GBA10.9991645781119511197155184381
35PKLR10.99246376811594131725155269981-155269993
36SEMA4A10.98206474190726412286156131141-156131168, 156131224-156131236
37NTRK110.99247176913425182391156830736-156830746, 156830755-156830758, 156830780-156830782
38F510.98382022471911086675169510256-169510296, 169510377-169510383, 169510499-169510528, 169510624-169510653
39SERPINC110.98781362007168171395173878908-173878919, 173879960, 173879967, 173880955-173880957
40HMCN110.99994085639934116908186010226
41CFHR510.99298245614035121710196963310, 196965207, 196967360-196967361, 196967372-196967374, 196967377, 196967403, 196967416, 196971670, 196971752
42ASPM10.99894575426491110434197070045-197070055
43PKP110.99495644199908112181201292215-201292225
44CD4610.997531200207925558-207925560
45USH2A10.99955154077776715609215916628, 215916664-215916667, 216251465-216251466
46PSEN210.98737936154417171347227071480-227071492, 227071525, 227076703-227076705
47ADCK310.99279835390947141944227153417-227153425, 227171800-227171804
48GJC210.567424242424245711320228345494-228345507, 228345646-228345665, 228345692-228345694, 228345722-228345754, 228345785-228345793, 228345815-228345840, 228345867, 228345897-228345937, 228345962-228345985, 228346000-228346045, 228346056-228346115, 228346140-228346157, 228346197-228346201, 228346242-228346272, 228346282-228346285, 228346327-228346339, 228346354-228346355, 228346364-228346457, 228346478-228346518, 228346540-228346560, 228346573-228346590, 228346617, 228346622, 228346629, 228346633, 228346713-228346755
49ACTA110.95590828924162501134229567765-229567766, 229567875, 229567878-229567881, 229567920-229567926, 229568045-229568054, 229568057, 229568065-229568072, 229568081-229568086, 229568158-229568167, 229568324
50LYST10.993950552340876911406235896941-235896959, 235897783-235897787, 235897869-235897875, 235897909-235897927, 235907279-235907280, 235907307-235907319, 235909781-235909784
51ACTN210.9992551210428322685236850031, 236850049
52RYR210.9993961352657914904237729968-237729976
53NET1100.976549413735344217915454697-5454722, 5454749-5454763, 5498551
54CUBN100.9993561442236971087217107533-17107539
55PTF1A100.798378926038519998723481515-23481523, 23481630-23481642, 23481657-23481672, 23481696-23481702, 23481719-23481773, 23481821-23481848, 23481860-23481882, 23481889-23481909, 23481914-23481919, 23481953-23481956, 23482000-23482015, 23482164
56MYO3A100.9962894248608518485126377211-26377226, 26414401-26414402
57PDSS1100.999198717948721124826986674
58RET100.9766816143497878334543572707-43572753, 43572762-43572779, 43607589, 43607592, 43615023, 43615076-43615078, 43615180-43615186
59ERCC6100.999553770638112448250740822, 50740825
60CHAT100.9951045838896311224750822351-50822361
61PCDH15100.9940567159110235588955839135-55839169
62EGR2100.999301187980431143164573026
63NODAL100.991379310344839104472201385-72201393
64CDH23100.979216388225932091005673406344-73406348, 73439168-73439170, 73439213-73439217, 73442253-73442273, 73447404-73447414, 73447448-73447461, 73461779-73461808, 73461822, 73461831-73461832, 73461836, 73461943-73461959, 73462360-73462393, 73464668-73464674, 73464680, 73464769-73464779, 73464799, 73464805-73464815, 73464871-73464880, 73466666-73466670, 73472526-73472529, 73537657-73537658, 73550117, 73551072-73551074, 73556926-73556930, 73558229-73558232
65VCL100.9894273127753336340575758101-75758118, 75873951-75873968
66LDB3100.9784798534798547218488439910, 88441483-88441484, 88441487, 88466358-88466386, 88469697-88469700, 88476286-88476292, 88476419-88476421
67BMPR1A100.999374609130711159988683146
68GLUD1100.958258795468170167788854082-88854090, 88854165-88854172, 88854386-88854423, 88854447-88854456, 88854504-88854508
69HPS1100.896486229819562182106100177345-100177349, 100177360-100177361, 100177364-100177369, 100177372-100177430, 100177449-100177462, 100177932-100177983, 100178011-100178014, 100183423, 100183523-100183536, 100185316, 100185418-100185423, 100185582-100185616, 100186985-100186986, 100189548-100189553, 100190903, 100190907-100190908, 100190961, 100191029, 100193799-100193803, 100193828
70COX15100.9983779399837821233101491754-101491755
71FBXW4100.9975786924939531239103454285-103454287
72HPS6100.9733676975945622328103825281-103825285, 103825336, 103825368-103825381, 103825409-103825421, 103825439, 103825444-103825450, 103825502, 103825505-103825507, 103825621, 103825674, 103825681, 103825687, 103825693-103825702, 103825725-103825727
73SUFU100.98762886597938181455104263981-104263997, 104264000
74COL17A1100.99465954606142244494105816776-105816795, 105816913-105816916
75HTRA1100.808731808731812761443124221169-124221378, 124221386-124221392, 124221445-124221447, 124221488-124221502, 124221556-124221596
76UROS100.9837092731829613798127477439-127477451
77HRAS110.78245614035088124570532641-532642, 532662-532671, 532751-532755, 533489, 533492-533499, 533558-533571, 533766-533791, 533834-533858, 534254, 534291-534322
78TALDO1110.91518737672584861014747482-747499, 747541-747572, 747578, 763390-763416, 763900, 763919-763925
79SLC25A22110.64711934156379343972791931-791959, 792013-792018, 792063, 792142-792184, 792202-792217, 792357-792373, 792377-792379, 792557-792563, 792573-792583, 792592-792593, 792608-792684, 792719-792727, 792870-792882, 792897-792925, 792939, 792951, 792954-792955, 792970, 792987-792988, 793543-793564, 794503-794507, 794776-794800, 794841, 794845-794848, 794890-794901, 794988-794989, 794993, 795006
80PNPLA2110.831683168316832551515819719-819748, 819774-819811, 819819-819825, 819837-819904, 822489-822492, 823534, 823542, 823793-823794, 823798-823802, 823807-823813, 823998-824008, 824025-824038, 824410-824436, 824593-824604, 824610, 824645-824657, 824726-824735, 824841-824844
81CTSD110.7360774818401932712391774857-1774876, 1774899-1774900, 1775035-1775039, 1775117, 1775128-1775131, 1775228-1775254, 1775270-1775275, 1775311-1775328, 1775351-1775368, 1778570-1778599, 1778612-1778636, 1778676-1778680, 1778756, 1778759-1778777, 1780223-1780226, 1780231-1780236, 1780292-1780293, 1780746-1780753, 1780807-1780812, 1780864-1780869, 1782539-1782583, 1782594, 1782597, 1782689-1782690, 1785022-1785062, 1785066-1785089
82TNNI2110.88888888888889615491861650-1861669, 1861758-1861774, 1861792, 1861795-1861797, 1862261-1862280
83TNNT3110.50064350064353887771946329-1946339, 1947925-1947926, 1947933-1947939, 1950368-1950373, 1954951-1954971, 1954996-1955057, 1955161-1955238, 1955562-1955573, 1955601, 1955606-1955607, 1955611-1955621, 1955635-1955637, 1955645-1955675, 1955776-1955802, 1955850, 1955860-1955885, 1956102-1956137, 1958224, 1959668-1959717
84H19110.936507936507946810712017756-2017763, 2017816-2017829, 2017972-2018003, 2018019-2018032
85IGF2110.596343178621662877112154217-2154259, 2154282, 2154288-2154325, 2154350-2154362, 2154382-2154448, 2154794-2154802, 2154843-2154851, 2154886-2154895, 2156657-2156672, 2161365-2161378, 2161410-2161456, 2161488, 2161491-2161509
86TH110.5377777777777872815752185473-2185476, 2185500-2185501, 2185537-2185540, 2185552, 2185573-2185580, 2185591-2185612, 2186474-2186496, 2186511-2186512, 2186519-2186534, 2186545-2186548, 2186554-2186595, 2186900-2186921, 2186952-2186967, 2186970-2186990, 2187232-2187245, 2187254-2187288, 2187710-2187779, 2187863-2187998, 2188118-2188156, 2188172-2188173, 2188181, 2188187-2188188, 2188209, 2188214-2188237, 2188670-2188678, 2188693-2188715, 2189104-2189110, 2189116-2189117, 2189148-2189163, 2189363, 2189366-2189369, 2189373-2189375, 2189399, 2189734-2189741, 2189744, 2189812-2189834, 2189842, 2190908-2190914, 2190972-2190990, 2190998-2191033, 2191049-2191071, 2191924-2191935, 2191943-2191944, 2191952, 2191956, 2191961-2191976, 2192000
87KCNQ1110.7395371738060152920312466329-2466633, 2466640-2466678, 2466691, 2466698-2466700, 2591858-2591879, 2591890-2591897, 2591909-2591910, 2591919, 2591922-2591926, 2592555-2592594, 2593287-2593289, 2593301, 2593304-2593305, 2593308, 2593311, 2593314-2593334, 2594142-2594177, 2869076-2869101, 2869188, 2869192-2869202
88CDKN1C110.132492113564678259512905257-2905265, 2905267, 2905270, 2905284, 2905294, 2905319-2905364, 2905900-2906543, 2906562-2906572, 2906580-2906646, 2906662-2906705
89SMPD1110.993670886075951218966411931-6411942
90KCNJ11110.999147485080991117317409069
91ABCC8110.9886219974715554474617470148-17470155, 17498176-17498189, 17498287, 17498290-17498320
92WT1110.9478764478764581155432456588-32456592, 32456596, 32456619-32456634, 32456647-32456689, 32456728-32456742, 32456823
93SLC35C1110.991477272727279105645827599-45827602, 45832823-45832827
94PEX16110.9884726224783912104145939262-45939263, 45939274-45939283
95F2110.9673622257891961186946741272, 46744730-46744732, 46744796-46744812, 46745029, 46747462, 46747470, 46747597-46747623, 46747629-46747630, 46748058-46748060, 46748068-46748069, 46749563-46749565
96MYBPC3110.9924183006535929382547371598, 47372123-47372150
97RAPSN110.85633575464084178123947459530, 47459553-47459595, 47460326-47460350, 47460364-47460391, 47460459-47460468, 47463205-47463214, 47463253-47463257, 47463430-47463431, 47464235-47464255, 47469597-47469598, 47470359-47470363, 47470476-47470497, 47470500, 47470507-47470509
98SERPING1110.9846972721224223150357365770-57365792
99BEST1110.996587030716726175861723283-61723286, 61723292, 61723295
100SLC22A12110.78038507821901365166264359101-64359146, 64359286-64359287, 64359350, 64359375-64359376, 64360321, 64360886-64360896, 64360933-64360944, 64361107-64361123, 64361161-64361200, 64361220-64361227, 64361263, 64361271, 64366005-64366009, 64366024, 64366312-64366317, 64366324-64366327, 64367148-64367300, 64367313-64367362, 64367857, 64368209, 64368239-64368240
101PYGM110.9766706207987359252964521022-64521032, 64521036, 64521055, 64521071, 64521381-64521387, 64521746-64521759, 64521777, 64525984-64525987, 64527131-64527143, 64527150-64527155
102SPTBN2110.9852223616339106717366456165-66456168, 66468248, 66468308-66468340, 66468406, 66468457, 66468734-66468737, 66468749-66468750, 66469134-66469138, 66472074, 66472096, 66472633-66472635, 66473298, 66475131, 66475247-66475260, 66475626-66475652, 66475743-66475746, 66483347-66483349
103PC110.9929318631608725353766633683-66633684, 66633749-66633750, 66639183-66639201, 66639289, 66639518
104CABP4110.909420289855077582867222950-67222982, 67223055-67223056, 67223063-67223065, 67223068-67223079, 67223088, 67223113-67223115, 67223199, 67223204, 67223208, 67223660, 67225131, 67225911-67225925, 67225928
105AIP110.2537764350453274199367250654, 67254477, 67254498-67254502, 67254507-67254515, 67254572-67254604, 67254627-67254633, 67256738-67256926, 67257509-67257685, 67257787-67257885, 67257915-67257928, 67258259-67258464
106NDUFS8110.99842022116904163367800727
107TCIRG1110.95226634576815119249367808743, 67808822, 67810133-67810136, 67810260-67810276, 67810283-67810322, 67811347-67811359, 67811620, 67811652-67811658, 67815028, 67817170-67817196, 67817219-67817221, 67817225-67817228
108LRP5110.97710396039604111484868080183-68080260, 68080271-68080273, 68177382-68177389, 68197152, 68201304, 68205951-68205954, 68207347-68207350, 68207374-68207384, 68216314
109IGHMBP2110.9939637826961818298268671474-68671489, 68703959, 68704531
110DHCR7110.9922969187675111142871146671, 71146684-71146693
111MYO7A110.801895306859211317664876858911, 76867122, 76867133, 76867789-76867794, 76868020-76868039, 76872106-76872107, 76873345-76873376, 76877194, 76883844-76883867, 76883907-76883931, 76885802-76885804, 76885807-76885813, 76885842-76885866, 76885898-76885960, 76886418-76886479, 76886501-76886506, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891455, 76891470-76891527, 76892426-76892501, 76892511-76892516, 76892528, 76892533-76892553, 76892557-76892563, 76892573-76892635, 76893008-76893025, 76893040, 76893044-76893081, 76893130-76893132, 76893164-76893200, 76893479-76893508, 76893535-76893565, 76893581-76893589, 76893621-76893645, 76894113-76894122, 76894128-76894167, 76894194-76894202, 76895721-76895754, 76900499-76900513, 76901120-76901121, 76901181-76901184, 76901810-76901821, 76901896-76901900, 76903112-76903137, 76903205, 76903211, 76903287, 76903307-76903311, 76909541, 76909610-76909622
112ALG8110.975332068311239158177817972, 77820488-77820516, 77823776-77823784
113FZD4110.999380421313511161486666091
114ALG9110.9972766884531651836111657184-111657186, 111742159-111742160
115APOA1110.9838308457711413804116706789-116706800, 116706803
116FXYD2110.995433789954342438117693241, 117693246
117HMBS110.9981583793738521086118955775-118955776
118ROBO3110.9987983657774654161124738933-124738937
119HYLS1110.997777777777782900125770046, 125770056
120WNK1120.99678276682053237149862869-862870, 862974-862990, 863277-863280
121VWF120.991471215351817284426058297-6058309, 6131955-6131982, 6132003-6132033
122TNFRSF1A120.99707602339181413686450942-6450945
123SCNN1A120.99771376314586521876464563-6464566, 6472625
124TPI1120.96266666666667287506976731-6976737, 6976825-6976845
125ATN1120.994962216624691835737045922-7045923, 7050642-7050657
126DNM1L120.9886928991406625221132866179-32866194, 32866255, 32866287, 32886733-32886739
127PKP2120.9801113762927650251433049443-33049469, 33049556-33049557, 33049634-33049654
128IRAK4120.999276934201011138344166750
129VDR120.994548286604367128448251347-48251353
130MLL2120.980678945467683211661449424124-49424128, 49424136, 49425107-49425108, 49426043-49426045, 49426184-49426188, 49426361-49426364, 49426618-49426619, 49426629, 49426635, 49426772-49426774, 49426784-49426786, 49426906-49426908, 49426915, 49427055-49427088, 49427211-49427216, 49427247-49427280, 49427319-49427324, 49427326, 49427333-49427338, 49427445-49427446, 49427877-49427879, 49430909-49430913, 49430932, 49431108-49431110, 49431222, 49431252-49431261, 49431305-49431308, 49431311-49431317, 49431371-49431373, 49431491-49431514, 49431550-49431556, 49431596-49431606, 49431759-49431761, 49431802-49431832, 49431865, 49431869, 49431883, 49431984, 49432116-49432123, 49432308-49432310, 49432478, 49432481, 49432493-49432500, 49432633-49432637, 49433079-49433084, 49433275-49433280, 49433313-49433328, 49433367-49433382, 49433624, 49434074-49434083
131TUBA1A120.99780701754386145649522213
132AQP2120.99142156862745781650349222-50349228
133KRT81120.9657444005270152151852683953, 52684027-52684060, 52685070-52685071, 52685075, 52685096, 52685181-52685183, 52685190, 52685193-52685194, 52685241-52685247
134KRT86120.9527720739219769146152696895-52696925, 52697001, 52699030-52699066
135KRT1120.99534883720939193553069235, 53069243, 53069298-53069304
136KRT4120.998879551820732178553201547-53201548
137AAAS120.998781230956732164153701400, 53701403
138GNS120.999397227245331165965141671
139CEP290120.9962365591397828744088472957-88472969, 88519073-88519086, 88522723
140TMPO120.9865707434052828208598909901-98909910, 98927528-98927541, 98927723-98927726
141GNPTAB120.9989392734022843771102224369-102224372
142UNG120.9787685774946920942109535569-109535588
143MVK120.9949622166246961191110034244-110034249
144TRPV4120.98585626911315372616110236433-110236434, 110236569, 110236624, 110246163-110246169, 110252242, 110252248, 110252424-110252444, 110252577-110252579
145ATP2A2120.9996804090763813129110719597
146ATXN2120.830035514967026703942111957728, 111957735, 112036588-112036840, 112036858-112037157, 112037204-112037318
147HNF1A120.99103375527426171896121416616, 121416622, 121416697, 121434192-121434195, 121434353-121434357, 121437374-121437378
148ATP6V0A2120.9992220925709822571124197169-124197170
149PUS1120.95638629283489561284132414268-132414295, 132414517-132414528, 132414621-132414630, 132425974, 132425978, 132425993, 132426084, 132426087, 132426315
150SACS130.9997088791848641374023907683-23907686
151B3GALTL130.9913159652638613149731774245-31774248, 31774258-31774264, 31903692-31903693
152BRCA2130.9998050112118621025732911836-32911837
153FREM2130.9957939011566840951039261568-39261570, 39261638, 39261664-39261690, 39261916-39261923, 39265063
154RNASEH2B130.9989350372737193951484219
155ZIC2130.933708567854911061599100634394-100634410, 100634420-100634422, 100634589-100634600, 100635008-100635010, 100637701-100637708, 100637723, 100637735-100637743, 100637749-100637751, 100637798-100637845, 100637916, 100637925
156COL4A1130.99481037924152265010110821982, 110864222-110864225, 110864252-110864257, 110864265-110864269, 110959337-110959344, 110959356, 110959369
157F7130.560299625468165871335113760156-113760167, 113760179-113760180, 113760189, 113760207-113760219, 113765004-113765005, 113765037-113765069, 113765079-113765087, 113765118-113765143, 113769989-113770056, 113770064-113770112, 113771787-113771810, 113771842-113771844, 113772727-113772739, 113772780-113772862, 113772885, 113772894-113772917, 113772939-113772976, 113773018, 113773021-113773048, 113773051, 113773060-113773081, 113773114-113773119, 113773132-113773175, 113773184-113773205, 113773213-113773239, 113773277-113773311
158F10130.97409679618269381467113777209-113777219, 113798227-113798237, 113798330, 113801736-113801738, 113803661-113803666, 113803671-113803676
159GRK1130.897163120567381741692114321728-114321730, 114321734, 114321759-114321761, 114321771-114321774, 114321777, 114321800-114321821, 114321929-114321940, 114322042, 114322058-114322152, 114322238, 114322289, 114322325-114322326, 114322360, 114322378-114322383, 114325820-114325822, 114325939, 114325944-114325956, 114325959-114325960, 114325963, 114426049
160PABPN1140.959826275787193792123790681-23790683, 23790699-23790710, 23790743-23790745, 23790943-23790946, 23790957, 23790972-23790985
161TGM1140.996332518337419245424724366-24724372, 24724435-24724436
162FOXG1140.76802721088435341147029236528-29236531, 29236620-29236956
163COCH140.9497882637628683165331344164-31344178, 31344262-31344307, 31348069-31348090
164NKX2-1140.9560530679933753120636986590-36986622, 36986673-36986683, 36986694, 36986697-36986703, 36986831
165FANCM140.999674638034812614745623989, 45623999
166C14orf104140.984884645982538251450100683, 50100686, 50100942-50100949, 50101091-50101108, 50101417-50101426
167L2HGDH140.9920977011494311139250713778-50713780, 50778762-50778769
168PYGL140.997248427672967254451411104-51411110
169GCH1140.96015936254983075355369222-55369237, 55369256-55369269
170SYNE2140.9999517467670312072464556377
171VSX2140.9834254143646418108674706335-74706341, 74706462-74706472
172EIF2B2140.9848484848484816105675471588-75471603
173MLH3140.999770747363591436275506638
174TGFB3140.999192897497981123976447001
175POMT2140.997336884154466225377786969-77786974
176GALC140.9946550048590911205888448552-88448554, 88459344-88459348, 88459397-88459399
177SPATA7140.997777777777784180088892618-88892621
178ATXN3140.998158379373852108692559648, 92559662
179AMN140.0462555066079312991362103389026-103389041, 103389050-103389051, 103389055-103389057, 103389060-103389068, 103390048-103390092, 103390098-103390102, 103390107, 103390111-103390117, 103390126-103390166, 103390272-103390301, 103394763-103394850, 103395095-103395312, 103395458-103395480, 103395490-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396978, 103396985-103397017
180INF2140.712810773750105167709-105167732, 105167794, 105167824-105167840, 105167866-105167882, 105167911-105167960, 105167977, 105167986-105167988, 105169442-105169444, 105169632-105169651, 105169745-105169770, 105170254-105170283, 105172416-105172422, 105172496-105172513, 105173273-105173281, 105173293, 105173296-105173298, 105173365, 105173368, 105173633-105173637, 105173754-105173794, 105173863, 105173906-105174146, 105174168-105174217, 105174226, 105174235-105174236, 105174249-105174277, 105174287-105174314, 105174333-105174339, 105174788-105174805, 105174840, 105174888-105174924, 105175618-105175626, 105176019-105176042, 105176431-105176440, 105176464-105176467, 105176497, 105177274-105177277, 105177312-105177313, 105177327-105177337, 105177416-105177419, 105177455-105177456, 105177484-105177523, 105178030-105178036, 105178772-105178781, 105178817-105178859, 105178865-105178890, 105179194, 105179217-105179218, 105179221-105179224, 105179237-105179277, 105179594-105179631, 105179782-105179789, 105179827-105179837, 105179925-105179943, 105180543, 105180565, 105180706, 105180710-105180717, 105180784-105180792, 105180979, 105181013-105181018, 105181069-105181095, 105181139-105181147
181NIPA1150.8202020202020217899023086234-23086411
182UBE3A150.999619482496191262825616254
183OCA2150.998808104886773251728202797, 28273138-28273139
184CHST14150.9628647214854142113140763475-40763500, 40763528, 40763538-40763539, 40763542-40763554
185CDAN1150.999457111834962368443021793, 43028813
186STRC150.9973723723723714532843896900-43896906, 43900354, 43910867-43910872
187SPG11150.999045280960177733244864905, 44864961-44864962, 44943712-44943715
188GATM150.9858490566037718127245670607-45670621, 45670626, 45670629-45670630
189CEP152150.998590130916417496549059555-49059556, 49090190-49090194
190TPM1150.988304093567251085563335108-63335117
191PPIB150.984639016897081065164455109-64455116, 64455171-64455172
192MAP2K1150.999153976311341118266782887
193CLN6150.965811965811973293668500478-68500490, 68521849-68521851, 68521857-68521871, 68521911
194HEXA150.997484276729564159072668279-72668282
195HCN4150.89285714285714387361273615059-73615071, 73615074-73615075, 73615146, 73659955, 73660030-73660076, 73660109-73660111, 73660114-73660155, 73660195-73660253, 73660292-73660336, 73660344-73660387, 73660391-73660393, 73660428-73660457, 73660489-73660525, 73660543-73660584, 73660594-73660611
196PSTPIP1150.36930455635492789125177310489-77310491, 77310526, 77310546-77310551, 77310563-77310570, 77310836-77310840, 77317851-77317876, 77317896-77317910, 77320193-77320218, 77320237-77320245, 77320900-77320929, 77320947-77320953, 77320958, 77320974-77320993, 77321875-77321878, 77321908-77321915, 77322843-77322922, 77323522-77323529, 77323536-77323548, 77323559, 77323566, 77323569-77323606, 77324639-77324703, 77324727, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
197FAH150.993650793650798126080472488-80472495
198RPS17150.9828431372549740882823387-82823393
199RPS17150.9828431372549740883207730-83207736
200POLG150.9801075268817274372089872028-89872035, 89876435-89876447, 89876656, 89876663, 89876814-89876864
201MESP2150.77721943048576266119490319603-90319608, 90319611-90319640, 90319643, 90319676-90319682, 90319734-90319738, 90319843-90319892, 90319952-90319963, 90320014-90320030, 90320043-90320044, 90320056-90320075, 90320099-90320111, 90320146, 90320161, 90320176, 90320214-90320247, 90320252, 90320258-90320284, 90320298-90320323, 90320360, 90320405-90320407, 90320427-90320434
202BLM150.998119417019288425491354597-91354602, 91354606, 91354609
203IGF1R150.9941520467836324410499192873-99192896
204HBZ160.7016317016317128429202954-202979, 203932, 203951, 203959, 203962-203967, 203994, 204007, 204016, 204023, 204056-204058, 204061-204076, 204271-204319, 204345-204365
205HBA2160.68531468531469135429222912-222924, 222955-223006, 223220-223238, 223309-223328, 223471-223494, 223520-223526
206GNPTG160.815904139433551699181401967-1402018, 1402103-1402160, 1402240-1402258, 1402275-1402307, 1412268, 1412305-1412310
207CLCN7160.55913978494624106624181496632-1496645, 1496694-1496718, 1497017-1497039, 1497047-1497056, 1497077, 1497082-1497087, 1497393-1497510, 1497533-1497536, 1497552-1497569, 1497656-1497715, 1498356-1498375, 1498391-1498402, 1498413-1498415, 1498423, 1498428-1498429, 1498447, 1498461, 1498467, 1498682-1498702, 1498709-1498744, 1498754-1498767, 1498967-1498975, 1498981-1499017, 1499042-1499094, 1499277-1499304, 1499323-1499328, 1500498, 1500501-1500503, 1500521, 1500525, 1500543-1500550, 1500560-1500597, 1500614-1500667, 1501624-1501717, 1502756-1502763, 1502776-1502791, 1502832-1502857, 1502864, 1502887-1502894, 1503858-1503869, 1503879, 1504412, 1504418-1504419, 1504437-1504444, 1504453, 1505140-1505152, 1505159-1505169, 1505196-1505230, 1506128-1506177, 1506187, 1509108, 1509123, 1509128-1509131, 1509141-1509145, 1509166-1509184, 1509187, 1510470, 1510885-1510887, 1510946, 1510949, 1511417-1511418, 1524835-1524837, 1524843-1524845, 1524858-1524871, 1524874-1524958, 1524961-1524963, 1524968
208IGFALS160.48084886128364100319321840601-1840625, 1840694-1840737, 1840749-1840769, 1840791-1840797, 1840828-1840861, 1840878-1840897, 1840900-1840903, 1840917-1840918, 1840938-1840975, 1840982-1841033, 1841037-1841057, 1841067-1841173, 1841188-1841237, 1841268, 1841271-1841273, 1841283-1841285, 1841293, 1841299-1841301, 1841313, 1841335-1841364, 1841385-1841394, 1841435, 1841454, 1841463, 1841467-1841489, 1841522-1841586, 1841608-1841664, 1841688-1841733, 1841774, 1841812, 1841818-1841851, 1841858-1841871, 1841909, 1841913-1841932, 1841964-1841977, 1842001-1842002, 1842012-1842055, 1842063-1842107, 1842146-1842157, 1842194, 1842243-1842285, 1842298-1842324, 1842363-1842411, 1842436-1842445, 1842466, 1842475-1842478, 1842483, 1842488, 1842498-1842502, 1843652-1843653
209GFER160.438511326860843476182034220-2034439, 2034451-2034477, 2034748-2034756, 2034797, 2034858-2034901, 2035915-2035921, 2035964-2036002
210TSC2160.23764749262537413554242098631-2098674, 2098691-2098734, 2098741-2098754, 2100482-2100487, 2103343-2103362, 2103388-2103450, 2104395-2104423, 2105403-2105419, 2106198-2106219, 2106660-2106674, 2108748-2108792, 2108801-2108841, 2108866-2108868, 2108874, 2110710-2110742, 2110763-2110814, 2111872-2111924, 2111967-2111994, 2112518-2112551, 2112554-2112561, 2112586-2112591, 2112973-2112999, 2113022-2113044, 2113052-2113053, 2114298, 2114340-2114409, 2114412, 2115521-2115538, 2115559, 2115570-2115636, 2120481-2120517, 2120539-2120575, 2121511-2121539, 2121564, 2121576-2121617, 2121785-2121935, 2122242-2122316, 2122324-2122364, 2122861, 2122931-2122941, 2122945-2122952, 2122969, 2122983, 2124201-2124230, 2124241-2124390, 2125800-2125893, 2126077, 2126081-2126109, 2126143-2126171, 2126492-2126586, 2127599-2127629, 2127636-2127677, 2127690, 2127696-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130177-2130178, 2130186-2130378, 2131596-2131706, 2131716-2131752, 2131756, 2131760-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134281, 2134294-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136867, 2137864-2137942, 2138049-2138138, 2138228-2138326, 2138450-2138456, 2138462-2138473, 2138477, 2138483-2138484, 2138497-2138611
211PKD1160.003794919454770712863129122139728-2139801, 2139807-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812, 2143823-2143870, 2143875-2143883, 2143897-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185495, 2185513-2185690
212ABCA3160.9458455522971727751152328416-2328422, 2331430, 2331464, 2331473-2331474, 2333216-2333232, 2333280-2333318, 2334428, 2334936, 2334957, 2334976-2334981, 2334984-2334985, 2334991-2334998, 2335443-2335458, 2338030, 2339595-2339599, 2342141-2342171, 2347386-2347414, 2347772-2347787, 2347841-2347842, 2347879, 2347899-2347922, 2348410-2348448, 2349406-2349409, 2349456-2349465, 2349493, 2350149, 2354099-2354101, 2354104-2354109, 2358608, 2369774
213MEFV160.988064791133842823463294492, 3304509-3304524, 3304600-3304602, 3304605, 3304610, 3306394-3306398, 3306425
214SLX4160.985467756584928055053632531, 3639452-3639457, 3642866, 3650994-3651026, 3651050-3651051, 3656495, 3656510-3656520, 3656548-3656564, 3656591, 3656650-3656652, 3658503-3658505, 3658932
215CREBBP160.9611133851821528573293777729, 3777744-3777783, 3777803, 3777816-3777817, 3777863-3777872, 3778042-3778051, 3778337-3778340, 3778383-3778415, 3778578-3778589, 3778598-3778640, 3778642-3778645, 3778653-3778654, 3778681-3778684, 3778722-3778726, 3778778-3778794, 3778881-3778895, 3778927-3778928, 3778933, 3778943, 3778957-3778959, 3778962-3778969, 3779006-3779010, 3779161, 3779164-3779186, 3779189-3779190, 3779313, 3779466, 3779472, 3779476-3779491, 3779494, 3929833-3929847, 3929850
216GLIS2160.4476190476190587015754382297, 4382300-4382302, 4382306-4382307, 4382321, 4382394-4382437, 4383385, 4383396, 4384811, 4384814-4384824, 4384827-4384830, 4384864-4384910, 4384943, 4384957-4384970, 4385061-4385122, 4385162, 4385188-4385194, 4385276, 4385293, 4385326-4385330, 4385333-4385353, 4386726-4386744, 4386804, 4386812-4386825, 4386827-4386839, 4386873-4387010, 4387024-4387110, 4387120-4387162, 4387168-4387271, 4387288-4387338, 4387346-4387349, 4387353-4387513, 4387520-4387525
217ALG1160.9003584229390713913955128823-5128872, 5130966-5130976, 5131020-5131057, 5132636, 5134808-5134846
218ABCC6160.92043439716312359451216255320, 16255337-16255344, 16256892-16256900, 16257017-16257020, 16259480-16259535, 16259581-16259592, 16259616-16259627, 16259715-16259790, 16263518-16263557, 16263624-16263662, 16263702-16263710, 16267141-16267178, 16267233-16267261, 16271449-16271473, 16272764
219UMOD160.9703588143525757192320359571-20359575, 20359778-20359793, 20359859-20359860, 20360048-20360073, 20360117, 20360136, 20360139, 20360331-20360335
220OTOA160.998830409356734342021696614, 21696620-21696622
221COG7160.999135322092522231323436127, 23464211
222PALB2160.999719180005621356123646199
223CLN3160.999240698557331131728498858
224TUFM160.9634502923976650136828857294-28857303, 28857397-28857427, 28857562-28857570
225ATP2A1160.998003992015976300628898565-28898569, 28913912
226PHKG2160.9901719901719912122130760142-30760153
227VKORC1160.98577235772358749231105945, 31105950-31105955
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333CACNA1A190.93684350485308475752113318233-13318288, 13318298-13318313, 13318344-13318382, 13318410-13318455, 13318461-13318519, 13318556-13318716, 13318787-13318792, 13318795-13318834, 13318865-13318867, 13319694-13319696, 13409487-13409505, 13409827, 13409872-13409897
334NOTCH3190.98377835199541113696615281329, 15302258, 15302355, 15302365, 15302642-15302658, 15302902, 15303094, 15308368-15308372, 15311615-15311684, 15311687, 15311690-15311692, 15311695-15311699, 15311711-15311716
335CYP4F22190.997493734335844159615651454-15651456, 15651460
336JAK3190.9928888888888924337517940952-17940965, 17953222-17953224, 17953297-17953303
337SLC5A5190.9694616977225759193217984952-17985001, 17985308-17985312, 17994520, 17994805-17994806, 17994837
338IL12RB1190.9567621920563186198918186633, 18188384-18188387, 18188461-18188464, 18191729, 18191767-18191797, 18197570-18197602, 18197622-18197633
339COMP190.94019349164468136227418896659-18896661, 18898317, 18899514-18899516, 18899525, 18900042-18900072, 18900825-18900836, 18900842-18900851, 18900860-18900868, 18900892-18900916, 18901410, 18901670-18901699, 18902033-18902041, 18902077
340SLC7A9190.999316939890711146433353041
341CEBPA190.57381615598886459107733792412-33792424, 33792493-33792496, 33792580-33792596, 33792635-33792637, 33792640-33792650, 33792693-33792695, 33792721-33792722, 33792747-33792787, 33792803-33792806, 33792812-33792815, 33792828-33792894, 33792912-33792931, 33792960-33793003, 33793009-33793060, 33793088, 33793119-33793219, 33793227-33793252, 33793275-33793320
342SCN1B190.970260223048332480735521731-35521754
343TYROBP190.99705014749263133936398453
344SDHAF1190.928160919540232534836486177-36486186, 36486230-36486237, 36486311-36486317
345RYR1190.983263875107492531511738931406, 38931492, 38976653-38976663, 38987504-38987506, 38987528, 38987531, 38987536-38987538, 39037163-39037165, 39055715-39055797, 39055806-39055809, 39055844-39055846, 39055874-39055943, 39055954-39056003, 39056024, 39056029-39056030, 39056080, 39056163-39056164, 39056169, 39056172-39056173, 39056177, 39056180, 39056232-39056237, 39056295, 39075662
346ACTN4190.9926900584795320273639138427-39138435, 39215129, 39216473-39216475, 39216488-39216489, 39219740-39219742, 39219973, 39219976
347DLL3190.999461497038231185739993496
348PRX190.9924760601915233438640909737-40909769
349TGFB1190.969309462915636117341854243-41854245, 41854251-41854253, 41854258, 41858771, 41858908-41858935
350ATP1A3190.999728113104951367842471019
351ETHE1190.99346405228758576544012107-44012111
352BCAM190.9591944886062577188745312393-45312441, 45312448-45312455, 45324060-45324079
353ERCC2190.977222952255852228345867001-45867015, 45867285, 45867288-45867299, 45867348-45867356, 45867508-45867509, 45867513, 45867586-45867589, 45867789-45867791, 45868177-45868181
354SIX5190.99909909909912222046268981, 46271845
355DMPK190.9947089947089910189046285532-46285541
356FKRP190.90120967741935147148847258814, 47259055-47259064, 47259190-47259225, 47259348-47259372, 47259440-47259441, 47259461-47259462, 47259486, 47259493, 47259604-47259616, 47259642-47259646, 47259671-47259693, 47259729-47259741, 47260031-47260033, 47260078-47260083, 47260168-47260173
357DBP190.539877300613545097849134104-49134106, 49134112-49134114, 49134183-49134194, 49138837-49139003, 49139010-49139192, 49139198-49139205, 49139229-49139247, 49140116-49140117, 49140187-49140191, 49140196-49140226, 49140235-49140251
358BCAT2190.995759117896525117949303355-49303357, 49303502-49303503
359GYS1190.996838301716357221449494658, 49496314-49496316, 49496319, 49496327-49496328
360MED25190.95276292335116106224450321630, 50321633, 50321662-50321663, 50333136-50333138, 50333776-50333783, 50335399, 50335404-50335405, 50335411-50335414, 50338830-50338848, 50339033-50339043, 50339161-50339163, 50339169-50339173, 50339525, 50339546-50339558, 50339628-50339659
361PNKP190.999361430395911156650365662
362MYH14190.9900180003272861611150728885-50728892, 50747520, 50764793-50764830, 50764866-50764874, 50764878-50764881, 50764886
363KCNC3190.78188214599824496227450823509-50823516, 50823569-50823578, 50826351-50826358, 50826361-50826364, 50826378-50826395, 50831519-50831566, 50831705-50831706, 50831713, 50831725-50831756, 50831766-50831787, 50831806-50831811, 50831863-50831903, 50831942-50831957, 50831965-50832020, 50832026-50832055, 50832078-50832104, 50832142-50832157, 50832189-50832339
364NLRP12190.93502824858757207318654301661-54301663, 54304521-54304524, 54304528, 54304563-54304580, 54304635-54304637, 54307235-54307236, 54307309-54307324, 54310827-54310833, 54310897-54310903, 54312871-54312875, 54312909-54312918, 54312966, 54312969, 54313065-54313085, 54313113, 54313116-54313117, 54313128-54313134, 54313172-54313173, 54313591-54313605, 54313626-54313635, 54313653-54313674, 54313788-54313802, 54313972-54313976, 54314069-54314073, 54314097-54314103, 54314148-54314159, 54314432-54314436
365PRPF31190.48780150054621694-54621705, 54625264, 54625944-54625964, 54625968-54625969, 54627128-54627164, 54627171-54627179, 54627880-54627888, 54627912, 54627920, 54627934-54627936, 54627940-54627997, 54628012-54628034, 54629905-54629930, 54629941-54629947, 54629958-54629972, 54631448-54631575, 54631680-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863
366TSEN34190.984994640943191493354695362-54695364, 54695368-54695378
367NLRP7190.981053307642959311455445007, 55445039-55445046, 55450744-55450746, 55450751-55450779, 55451168-55451171, 55451574, 55451596, 55452841-55452849, 55452853, 55452967, 55453063
368TNNT1190.87452471482899978955644323-55644328, 55645293-55645295, 55652269-55652324, 55652328, 55652665-55652670, 55653252, 55653256-55653258, 55658049-55658071
369TNNI3190.952380952380952960955665563-55665569, 55666155, 55667582-55667583, 55667671, 55667681-55667691, 55668486-55668492
370TPO20.978943611705925928021520655-1520660, 1520671-1520719, 1520722-1520724, 1544366
371KLF1120.9727095516569242153910183844-10183885
372MYCN20.82939068100358238139516082307-16082309, 16082366, 16082371-16082394, 16082409-16082432, 16082456-16082474, 16082541-16082582, 16082590-16082606, 16082644-16082652, 16082684-16082731, 16082830-16082867, 16082873, 16082945-16082956
373MATN320.996577686516085146120205801, 20212181-20212183, 20212218
374POMC20.99378109452736580425384430-25384433, 25384462
375HADHA20.9877835951134428229226414415-26414441, 26437950
376OTOF20.86036036036036837599426697392-26697399, 26697411-26697422, 26697481-26697504, 26697514, 26699143-26699170, 26699759-26699911, 26700040-26700156, 26700284-26700374, 26700517-26700579, 26700602-26700606, 26700615-26700616, 26702132-26702140, 26702214-26702240, 26702367, 26702371-26702404, 26702428-26702491, 26703071-26703112, 26703159-26703167, 26703722-26703762, 26703787-26703838, 26705274-26705323, 26705380-26705383
377ALK20.999177462471734486330143485-30143488
378XDH20.999000499750124400231570419-31570420, 31572908-31572909
379SPAST20.9529983792544687185132289002-32289026, 32289037-32289040, 32289051, 32289055-32289057, 32289074-32289091, 32289143-32289149, 32289197, 32289207, 32289210-32289220, 32289273-32289280, 32289307-32289314
380CYP1B120.87622549019608202163238298128, 38301627, 38301630-38301634, 38301691, 38301831-38301832, 38301835-38301838, 38301948-38301952, 38301978-38301981, 38301995, 38302002, 38302011-38302020, 38302023, 38302028, 38302032-38302054, 38302072-38302074, 38302109-38302113, 38302183, 38302194-38302227, 38302262, 38302276-38302316, 38302330-38302333, 38302413-38302440, 38302464-38302472, 38302478-38302479, 38302483, 38302519-38302531
381SOS120.9967516241879113400239285821-39285824, 39285892-39285900
382ABCG820.9945598417408511202244079749-44079755, 44099133, 44102368-44102370
383SIX320.996996996997399945169430-45169432
384MSH620.9821209894685373408348010461-48010476, 48010498-48010509, 48010530-48010536, 48010541, 48010549-48010551, 48010557-48010566, 48010601-48010624
385LHCGR20.997142857142866210048982764-48982769
386DYSF20.9858490566037790636071801328-71801330, 71801492, 71801496-71801499, 71825737-71825739, 71825742-71825746, 71825789, 71825840-71825864, 71829906-71829912, 71829915, 71847696-71847735
387SPR20.940203562340974778673114612-73114619, 73114709-73114724, 73114789-73114807, 73114843-73114846
388ALMS120.99904030710173121250473613032-73613034, 73613291, 73827996-73828002, 73828342
389MOGS20.9709626093874373251474688431, 74689008-74689009, 74689049-74689066, 74692280-74692287, 74692293, 74692311-74692330, 74692342-74692364
390SUCLG120.994236311239196104184686302, 84686314-84686317, 84686332
391GGCX20.999121651295562227785788525-85788526
392REEP120.957095709570962660686564602-86564616, 86564623-86564633
393EIF2AK320.997314234556859335188883019-88883023, 88926730-88926732, 88926749
394TMEM12720.910739191073926471796930905, 96930909, 96930951-96930959, 96930980-96930981, 96930996, 96931000, 96931007-96931011, 96931038, 96931067-96931109
395RANBP220.8536434108527114169675109336118-109336134, 109345588-109345601, 109347230-109347259, 109347271, 109347315-109347341, 109347820-109347859, 109347874-109347908, 109351988, 109352014-109352029, 109352099-109352118, 109352128-109352150, 109352178-109352197, 109352560-109352561, 109357088-109357126, 109365376, 109367754, 109367840-109367847, 109367984-109367989, 109368074-109368114, 109368424-109368450, 109369966, 109370281-109370312, 109370369-109370407, 109371468-109371512, 109371656-109371688, 109371711-109371715, 109374869-109374872, 109374904, 109374915, 109374949-109374975, 109378557-109378576, 109378624-109378625, 109378646-109378651, 109379718, 109380092-109380097, 109380334, 109380344, 109380532, 109380993-109381000, 109381347, 109381566-109381568, 109381656, 109381853-109381858, 109381934-109381955, 109382105-109382132, 109382175, 109382307-109382333, 109382530, 109382635-109382642, 109382700-109382724, 109382776-109382794, 109382823-109382846, 109382976-109383003, 109383045-109383117, 109383204-109383232, 109383260-109383301, 109383315-109383321, 109383368, 109383669, 109383679, 109383761-109383798, 109383968-109383986, 109383998-109384041, 109384079-109384109, 109384149, 109384167, 109384291-109384307, 109384469, 109384486-109384521, 109384542-109384567, 109384574-109384605, 109384628-109384667, 109384771-109384805, 109384833-109384844, 109388188-109388215, 109388271, 109393601-109393621, 109397837, 109397841-109397858, 109398704-109398718, 109399206-109399233, 109399310, 109400164, 109400324-109400341
396MERTK20.99933000112656333-112656335
397GLI220.98550724637681694761121555023-121555026, 121708992-121708995, 121746079-121746081, 121746145-121746161, 121746185-121746187, 121746190, 121746226, 121746316, 121746333, 121746337, 121746510-121746514, 121746520-121746521, 121746587-121746609, 121746621, 121747086-121747087
398PROC20.94011544011544831386128178898, 128178901, 128180493-128180498, 128180510, 128180675-128180747, 128180872
399CFC120.9226190476190552672131279623-131279626, 131279640, 131280368, 131280372-131280382, 131280385, 131280745, 131280748, 131280791-131280815, 131285402-131285408
400RAB3GAP120.9993211133740722946135888281-135888282
401SCN2A20.9998338318378216018166211137
402SCN9A20.999494438827135934167099022, 167099025, 167099110
403CHN120.9985507246376821380175869639-175869640
404HOXD1320.9980620155038821032176957802, 176957807
405PRKRA20.9893842887473510942179314970, 179314980-179314986, 179315711, 179315723
406DFNB5920.9962228517469341059179318137, 179318320-179318321, 179325168
407TTN20.999920197909198100248179458863, 179460326, 179468830, 179477673-179477674, 179501408, 179514905, 179598057
408CERKL20.9993746091307111599182468588
409COL3A120.9981822313110784401189850422-189850425, 189856415, 189859034, 189871663, 189872617
410HSPD120.98141695702671321722198351835-198351865, 198361937
411BMPR220.9993583573949323117203242258, 203420804
412NDUFS120.9977106227106252184206992625, 207018362-207018365
413WNT10A20.97288676236045341254219745753-219745777, 219757645, 219757658, 219757668, 219757671-219757673, 219757801-219757803
414DES20.94762915782024741413220283192, 220283195-220283200, 220283217-220283254, 220283259, 220283433, 220283573-220283583, 220283700-220283714, 220283723
415OBSL120.957652433667192415691220416299-220416301, 220416839-220416842, 220416874-220416875, 220416886, 220417282-220417297, 220417367-220417388, 220417604-220417614, 220417666-220417675, 220435353, 220435392-220435395, 220435524-220435537, 220435633-220435656, 220435665-220435695, 220435720-220435727, 220435738-220435780, 220435797-220435821, 220435902, 220435912-220435931, 220435934
416PAX320.9960474308300461518223163260-223163265
417COL4A420.9986176935229175064227886793-227886799
418COL4A320.99740674246958135013228029471-228029473, 228145271-228145277, 228147149, 228163499, 228168832
419CHRND20.999356499356511554233390960
420AGXT20.9983036471586121179241808370, 241810074
421D2HGDH20.876117496807151941566242674734-242674742, 242689601-242689607, 242695409-242695410, 242707125-242707155, 242707199-242707237, 242707245, 242707248, 242707255-242707265, 242707285-242707345, 242707353-242707384
422C20orf54200.9950354609929171410741847, 745984-745989
423AVP200.430303030303032824953063289-3063294, 3063319-3063327, 3063330-3063375, 3063401-3063448, 3063630-3063700, 3063715-3063735, 3063744-3063824
424PANK2200.99474605954466917133870133-3870141
425JAG1200.9967186218211612365710653575-10653579, 10654117-10654121, 10654177-10654178
426THBD200.9918981481481514172823029677-23029683, 23029904-23029910
427SNTA1200.84123847167325241151832000226, 32000425-32000431, 32031162-32031218, 32031224-32031267, 32031282-32031286, 32031290-32031293, 32031304-32031426
428SAMHD1200.999468367889421188135579859
429HNF4A200.9894736842105315142543052785-43052799
430CTSA200.995991983967946149744520238-44520243
431CD40200.99640287769784383444756810-44756812
432COL9A3200.89099756690998224205561448417-61448479, 61448493-61448494, 61448919-61448923, 61448930-61448938, 61448951-61448972, 61451286-61451289, 61453979-61453981, 61455797, 61456320-61456373, 61457176-61457213, 61457594-61457606, 61461878, 61461902-61461910
433CHRNA4200.323779193205941274188461978116-61978151, 61978172-61978208, 61981045-61981115, 61981149-61981185, 61981200, 61981209-61981218, 61981233-61981340, 61981346-61981420, 61981427-61981482, 61981522-61981654, 61981671-61981674, 61981683, 61981687, 61981690-61981691, 61981694, 61981700-61981742, 61981769-61981802, 61981830-61981868, 61981926-61981938, 61981946-61981976, 61982011-61982038, 61982071-61982072, 61982085, 61982092, 61982160-61982197, 61982204-61982257, 61982314-61982347, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
434KCNQ2200.66170294005346886261962037997-62038018, 62038049, 62038052-62038054, 62038059, 62038126, 62038161-62038177, 62038267-62038292, 62038348, 62038398-62038402, 62038411-62038419, 62038453-62038486, 62038507-62038558, 62038588-62038620, 62038635-62038659, 62044882-62044886, 62046260-62046292, 62059756-62059788, 62065187-62065204, 62070951-62070971, 62070981-62070984, 62071029-62071061, 62073784-62073820, 62073883-62073884, 62076017-62076031, 62076066-62076111, 62076142-62076187, 62076593-62076603, 62076645-62076698, 62076717, 62078108, 62103521-62103816
435SOX18200.16883116883117960115562679519-62679526, 62679539-62679569, 62679581-62679600, 62679620-62679626, 62679630-62679632, 62679645-62679676, 62679703-62679748, 62679754-62679785, 62679830-62679896, 62679908-62679974, 62679989-62679999, 62680018-62680062, 62680072-62680215, 62680227-62680315, 62680512-62680869
436IFNGR2210.9487179487179552101434775850-34775883, 34775904-34775921
437RCAN1210.940711462450594575935987194-35987207, 35987248-35987278
438RUNX1210.9951489951497144336164775-36164781
439TMPRSS3210.99853479853482136543805532-43805533
440CBS210.9921497584541113165644474016-44474023, 44478944-44478948
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521MANBA40.99356060606061172640103611767-103611774, 103681886, 103681943-103681946, 103682015-103682018
522CISD240.9264705882352930408103808512-103808522, 103808569-103808587
523ANK240.998736735725111511874114117547-114117553, 114195734, 114213600-114213606
524MFSD840.9974309569685341557128842870-128842873
525CTSO40.997929606625262966156874964-156874965
526GLRB40.96921017402945461494158041708-158041719, 158041761, 158041768-158041780, 158057621-158057627, 158057710-158057715, 158059970-158059971, 158060074-158060078
527GK40.98977135980746171662166199423-166199432, 166199807-166199813
528SLC25A440.9464882943143848897186064590-186064637
529SDHA50.97994987468672401995218495-218504, 223682-223683, 231039-231045, 236584-236590, 251143-251149, 251500-251506
530SLC6A1950.674540682414762019051201766-1201967, 1208861-1208863, 1208887-1208920, 1208948-1208950, 1208964, 1208973-1209000, 1210579-1210581, 1210617-1210677, 1212492, 1212575-1212599, 1213578-1213628, 1213652-1213662, 1213668, 1213687-1213688, 1214068-1214110, 1214138-1214163, 1214166-1214167, 1216704-1216715, 1216800-1216801, 1219018-1219022, 1219042-1219070, 1219125, 1219190-1219215, 1219653-1219685, 1219750-1219764
531TERT50.29214474845543240633991253903, 1253909, 1253915, 1254488-1254540, 1254554, 1254562-1254563, 1258713-1258720, 1258725-1258754, 1264519-1264527, 1264553-1264571, 1264593-1264635, 1264699, 1266589-1266598, 1266603-1266605, 1266618-1266626, 1268635-1268649, 1268655-1268695, 1268709-1268748, 1271243-1271319, 1272304-1272380, 1272390-1272394, 1278766-1278792, 1278799-1278819, 1278823-1278829, 1278838-1278856, 1278865, 1278878-1278911, 1279406-1279558, 1279569-1279585, 1280289-1280291, 1280296, 1280304-1280307, 1280311-1280405, 1280417-1280453, 1282589-1282596, 1282688, 1282692-1282704, 1282710, 1282714, 1282738-1282739, 1293430-1293816, 1293827-1293859, 1293869-1293932, 1293940-1293972, 1293977-1294042, 1294044-1294046, 1294054-1294108, 1294117-1294489, 1294500-1294781, 1294886-1295104
532SLC6A350.9420289855072510818631406322, 1409943-1409944, 1414855-1414881, 1420684-1420701, 1422032-1422067, 1422077-1422098, 1422128-1422129
533SDHA50.8256880733945573271593244-1593285, 1593352-1593358, 1594526-1594531, 1594568-1594569
534DNAH550.9998558558558621387513810316, 13916517
535ANKH50.995943204868156147914713701, 14871552-14871556
536NIPBL50.9957219251336936841536953804, 36976056, 36976081-36976082, 37006609-37006626, 37007480-37007485, 37016234, 37022452, 37036589, 37045603-37045606, 37048753
537GHR50.994261867501311191742629151-42629160, 42629205
538ITGA250.996051889452914354652285334-52285347
539SMN250.962711864406783388569362930-69362953, 69372348-69372356
540SMN250.97288135593222488570238354-70238377
541HEXB50.93596648713345107167173981094-73981134, 73981145-73981165, 73981212-73981238, 73981250-73981252, 73981266-73981280
542ARSB50.998751560549312160278280976, 78281063
543RASA150.9945928753180717314486669980-86669981, 86670060-86670074
544LMNB150.923906871095971341761126113201-126113241, 126113314-126113317, 126113365-126113393, 126113474-126113507, 126113534-126113559
545FBN250.99588053553038368739127702086-127702088, 127702094, 127873070-127873082, 127873278-127873296
546DIAPH150.9994763026970423819140953311-140953312
547TCOF150.99724517906336124356149737358-149737365, 149748372-149748375
548NIPAL450.9992862241256211401156887236
549GABRA150.9992706053975211371161281245
550NKX2-550.998974358974361975172659970
551MSX250.9875621890547310804174151769, 174151817-174151824, 174151871
552F1250.9261168384879743582176830283-176830284, 176830300-176830338, 176830363, 176830371
553F1250.790043290043293881848176830283-176830284, 176830300-176830338, 176830363, 176830371, 176830501-176830535, 176830539-176830541, 176830546-176830551, 176830559-176830573, 176830872, 176830879-176830883, 176830886-176830895, 176830914-176830956, 176830966-176831031, 176831073-176831090, 176831216, 176831219, 176831271, 176831332-176831370, 176831564-176831590, 176831614-176831637, 176831820-176831827, 176831833-176831838, 176832055-176832068, 176832184-176832186, 176832963-176832972, 176833005-176833013
554GRM650.94988610478361322634178408660-178408671, 178409931-178409944, 178410183-178410216, 178413456-178413460, 178413887, 178413890, 178418940-178418949, 178418955-178418957, 178421583-178421596, 178421654-178421689, 178421895-178421896
555SQSTM150.871504157218441701323179247937-179247963, 179247982-179248079, 179248091-179248119, 179248126-179248141
556FLT450.4596774193548422114092180043367-180043392, 180043450-180043489, 180045770-180045838, 180045842, 180045845-180045851, 180045874-180045920, 180046021-180046109, 180046259-180046279, 180046300-180046307, 180046315, 180046334-180046366, 180046672, 180046677-180046696, 180046699-180046726, 180046731, 180046738-180046740, 180046753-180046769, 180047173-180047182, 180047192, 180047195-180047216, 180047254-180047308, 180047615, 180047623-180047648, 180047671-180047674, 180047696-180047715, 180047876-180047914, 180047925-180047966, 180047989-180048007, 180048117-180048148, 180048152-180048175, 180048192-180048219, 180048228-180048241, 180048542-180048595, 180048636-180048643, 180048666-180048667, 180048690-180048695, 180048698, 180048703-180048707, 180048732-180048742, 180048749, 180048756, 180048761, 180048769-180048778, 180048808, 180048815, 180048818-180048829, 180048884-180048887, 180049746-180049748, 180049764-180049767, 180049784-180049786, 180049810-180049838, 180050942-180050955, 180050966-180051061, 180052869-180052896, 180052911-180052968, 180052970, 180052974-180052977, 180052981-180052995, 180053000-180053002, 180053008-180053031, 180053111-180053117, 180053142-180053208, 180053221, 180053258-180053265, 180055893-180055999, 180056259-180056407, 180056419-180056427, 180056696-180056764, 180056776-180056835, 180056943-180057105, 180057225-180057258, 180057269-180057271, 180057275-180057314, 180057331-180057337, 180057555-180057631, 180057647-180057680, 180057688-180057727, 180057740-180057799, 180058682-180058778, 180076516-180076545
557FOXC160.6654632972322555616621610707-1610796, 1610822-1610832, 1610848-1610852, 1610855, 1610865, 1610966-1610979, 1611072-1611119, 1611151-1611155, 1611180-1611202, 1611287-1611330, 1611356, 1611367-1611376, 1611398-1611442, 1611479-1611537, 1611544-1611558, 1611565-1611569, 1611591-1611710, 1611718-1611726, 1611802-1611813, 1611918, 1611929-1611934, 1611940, 1612016-1612039, 1612110, 1612142-1612146
558TUBB2B60.971599402092683813383225059, 3225440-3225468, 3225571-3225573, 3225579-3225580, 3225583, 3225623, 3225638
559ATXN160.9852941176470636244816327436, 16327856, 16327859-16327870, 16327873, 16327876, 16327879, 16327882, 16327885, 16327888, 16327891, 16327894, 16327897, 16327900, 16327903, 16327909, 16327916-16327924, 16327927
560HLA-H60.9841275029855797-29855808
561CFB60.999473822678242380131911929-31911930
562TNXB60.91653706583722161192931976916, 31976926, 31977388-31977395, 31977523-31977555, 31977995-31978001, 31978498-31978517, 31978599, 31978782-31978793, 31979450, 31979476-31979482, 31979558-31979583, 31979960-31980003
563CYP21A260.9657258064516151148832006211-32006243, 32006317, 32006337, 32006886, 32006960-32006963, 32008195-32008201, 32008268, 32008744, 32008825, 32008865
564TNXB60.982559509780822221272932009648-32009664, 32009936, 32010120-32010129, 32010256-32010275, 32010303, 32010325, 32010330, 32010729-32010735, 32010777-32010783, 32010840, 32011220-32011252, 32012274, 32012301-32012348, 32012422-32012437, 32012814-32012820, 32012896-32012902, 32025884, 32026064, 32026071-32026088, 32064312-32064331, 32064681-32064684
565HLA-DQA160.966145833333332676832609126, 32609130, 32609142, 32609147, 32609150, 32609169, 32610387-32610406
566HLA-DQB160.8282442748091613578632629124-32629173, 32629224-32629234, 32632583-32632601, 32632605, 32632608, 32632679-32632703, 32632742, 32632745, 32632749, 32632781-32632791, 32632795, 32632801, 32632817-32632823, 32632832-32632836
567SYNGAP160.9833829365079467403233388042-33388108
568FANCE60.976412166356338161135420390, 35420405-35420438, 35420482-35420484
569LHFPL560.99848484848485166035773814
570MOCS160.80272108843537377191139883883-39883884, 39893422-39893469, 39893492-39893589, 39895068-39895240, 39895262-39895317
571PRPH260.9846301633045116104142672154-42672169
572RSPH960.965102286401932983143612852-43612859, 43612909-43612926, 43638526-43638528
573RUNX260.966155810983453156645390481-45390533
574MUT60.9893475366178424225349409563-49409575, 49409614, 49409619-49409625, 49409640-49409641, 49409672
575EFHC160.996879875195016192352303200-52303204, 52303210
576EYS60.999894011658721943564694373
577LMBRD160.994454713493539162370410727-70410735
578RIMS160.9885804292183558507972806746-72806755, 72993806-72993814, 73000448, 73000476-73000512, 73023248
579SIM160.9995654063450712301100897536
580PDSS260.9991666666666711200107780270
581OSTM160.878606965174131221005108395713-108395797, 108395809-108395845
582FIG460.999632892804712724110106174
583COL10A160.99021047479197202043116441743-116441748, 116441825, 116442001-116442008, 116442332-116442335, 116442389
584PLN60.99371069182391159118880204
585PEX760.978395061728421972137143843-137143845, 137143858, 137143861-137143863, 137143899-137143902, 137143906-137143913, 137143921, 137143928
586PEX360.98841354723708131122143792173-143792185
587STX1160.998842592592591864144508003
588TBP60.93627450980392651020170871023-170871072, 170871122, 170871131-170871144
589LFNG70.2657894736842183711402559496-2559927, 2564329-2564373, 2564882-2564928, 2564939-2564952, 2565063, 2565076-2565174, 2565319-2565334, 2565390-2565399, 2565879, 2565882-2565887, 2565907-2565931, 2565946-2565955, 2565959, 2565970, 2565984-2566043, 2566488-2566491, 2566510-2566555, 2566826, 2566829-2566846
590PMS270.9497875627655513025896013125-6013156, 6017296, 6017299, 6017311, 6026985-6026991, 6029468-6029486, 6042135-6042180, 6048628-6048650
591TWIST170.6666666666666720360919156554-19156565, 19156607-19156612, 19156650, 19156675-19156722, 19156743, 19156760-19156761, 19156793-19156925
592DNAH1170.99594753905099551357221628909-21628925, 21628983-21629000, 21630619-21630627, 21923909-21923917, 21924013-21924014
593KLHL770.997160704145375176123164667-23164671
594HOXA170.996031746031754100827135317-27135319, 27135338
595HOXA1370.68551842330763367116727239183-27239187, 27239199-27239218, 27239259-27239282, 27239295-27239590, 27239602-27239623
596RP970.941441441441443966633136937-33136939, 33148833-33148851, 33148920-33148936
597BBS970.999624624624621266433313463
598GLI370.9818680160236186474342005261-42005269, 42005450-42005459, 42005537-42005548, 42005555-42005598, 42005712, 42005770-42005776, 42005867-42005869
599PGAM270.99737532808399276244105127-44105128
600GCK70.9707351891506141140144185216-44185223, 44186081-44186082, 44186085-44186089, 44191870-44191875, 44192900-44192919
601CCM270.8749063670412167133545039933-45039962, 45113096-45113100, 45113155-45113170, 45113881-45113922, 45115401-45115412, 45115464-45115470, 45115510-45115551, 45115584-45115591, 45115626-45115629, 45115632
602EGFR70.9928433801266226363355087006-55087010, 55087013-55087014, 55087020-55087023, 55087031-55087045
603ASL70.5921146953405569139565546827-65546864, 65546969-65546984, 65547397-65547432, 65548064-65548077, 65548123-65548161, 65551572-65551577, 65551619-65551643, 65551731-65551776, 65551779, 65552763-65552767, 65553794-65553845, 65553880-65553890, 65554078-65554141, 65554271-65554273, 65554282-65554287, 65554300-65554302, 65554305, 65554599-65554600, 65554629-65554677, 65556993-65556996, 65557021-65557062, 65557562-65557571, 65557577-65557588, 65557614, 65557632, 65557636-65557646, 65557772, 65557810-65557816, 65557823-65557881, 65557887-65557890
604KCTD770.958620689655173687066094092-66094098, 66094142-66094148, 66094174-66094195
605SBDS70.976095617529881875366456147-66456164
606NCF170.8387878787878813382572639921-72639963, 72639980-72639993, 72641445, 72643625, 72643630-72643632, 72643645, 72643700, 72645861-72645881, 72645927, 72648669-72648699, 72648735-72648750
607ELN70.93333333333333145217573442523-73442596, 73457354, 73462843-73462848, 73466083-73466088, 73466098-73466101, 73466259-73466281, 73466299-73466300, 73466312-73466313, 73467493-73467506, 73471991, 73477487, 73477677-73477685, 73477688-73477689
608NCF170.81841432225064213117374193605, 74193662-74193680, 74195127, 74197303-74197312, 74197388, 74199544-74199564, 74202349-74202379, 74202415-74202432, 74202933, 74202946-74202954, 74202957, 74202984-74203035, 74203383-74203430
609POR70.469407733724911084204375608773, 75609677-75609685, 75609712-75609724, 75609731-75609805, 75610366-75610390, 75610410-75610436, 75610449-75610450, 75610457-75610461, 75610467, 75610477, 75610835-75610850, 75610899-75610924, 75611574-75611589, 75612898, 75612921-75612937, 75612942, 75613056-75613075, 75613084-75613124, 75613134-75613135, 75613146-75613153, 75613162-75613174, 75614095-75614102, 75614120-75614143, 75614168-75614180, 75614197-75614276, 75614376-75614407, 75614426-75614515, 75614523-75614525, 75614912-75614919, 75614928-75615159, 75615167, 75615241-75615300, 75615324-75615386, 75615477-75615526, 75615550-75615559, 75615657-75615664, 75615675-75615686, 75615707-75615776
610HSPB170.941747572815533661875932062, 75932177-75932179, 75932209-75932213, 75932258-75932283, 75932379
611CD3670.999295278365051141980285973
612AKAP970.9997441146366431172491625108, 91714896-91714897
613KRIT170.998643147896883221191852148-91852149, 91867013
614SLC26A570.9995525727069412235103029492
615RELN70.99961453213838410377103629800-103629803
616MET70.99640546369518154173116339538-116339539, 116339593-116339604, 116340168
617CFTR70.97996848975917894443117188713-117188753, 117188760-117188800, 117188847-117188853
618LEP70.996031746031752504127894788, 127894804
619IMPDH170.975451800128049814-128049837, 128049853-128049871, 128049905, 128049946
620FLNC70.981780386402541498178128470696-128470700, 128470717-128470762, 128470844, 128470870, 128470873-128470911, 128470917-128470920, 128471012-128471028, 128477268-128477298, 128477468-128477471, 128480704
621BRAF70.98826597131682272301140549940, 140624382-140624384, 140624387-140624388, 140624397-140624416, 140624421
622PRSS170.9838709677419412744142460366-142460377
623KCNH270.99281609195402253480150671872-150671876, 150674926, 150674974-150674982, 150674992-150675001
624PRKAG270.995321637426981710151329208-151329211, 151329214, 151372571-151372573
625SHH70.554355651547886191389155595594-155595610, 155595620-155595725, 155595734-155595741, 155595763-155595810, 155595824-155595851, 155595858-155595914, 155595928-155595948, 155595954-155595967, 155595975-155595994, 155596009-155596080, 155596104-155596161, 155596188-155596201, 155596203-155596233, 155596248, 155596258, 155596280-155596281, 155596297-155596336, 155596348-155596387, 155599057-155599058, 155599082-155599088, 155599095, 155599112-155599128, 155599199-155599201, 155599212, 155599217-155599226
626MNX170.703150912106143581206156799264-156799270, 156802527-156802529, 156802536, 156802605-156802612, 156802636-156802821, 156802830-156802847, 156802850-156802858, 156802861-156802908, 156802916-156802949, 156802958-156803001
627GATA480.77125658389767304132911565837-11565839, 11565842-11565864, 11565873-11565876, 11565880, 11565891-11565894, 11565898, 11565941-11566023, 11566042, 11566048, 11566072-11566081, 11566113-11566115, 11566139-11566198, 11566209-11566247, 11566256-11566258, 11566262-11566285, 11566339, 11566345-11566349, 11566357-11566359, 11566367, 11566372-11566373, 11566390-11566407, 11566423-11566436
628ASAH180.994949494949496118817928809-17928814
629CHRNA280.995597484276737159027320590-27320595, 27320598
630ADAM980.996747967479678246038854593-38854594, 38854670, 38854674-38854678
631THAP180.984423676012461064242698170-42698171, 42698174-42698181
632HGSNAT80.94706498951782101190842995640-42995647, 42995664-42995756
633GDAP180.998142989786442107775262798-75262799
634CA280.97573435504471978386376311-86376329
635NBN80.991611479028719226590960052-90960064, 90960111-90960116
636DECR180.999007936507941100891057131
637GDF680.89035087719298150136897156895-97156900, 97157167, 97157196-97157249, 97157269, 97157272, 97157304-97157317, 97157355-97157386, 97157406-97157428, 97157533, 97157571-97157575, 97157613-97157614, 97157635-97157637, 97157653-97157659
638VPS13B80.998415874603971911994100514056-100514067, 100844705-100844711
639TRPS180.98815958815959463885116599373-116599379, 116599418-116599419, 116599446-116599453, 116599756-116599784
640KIAA019680.9974137931034593480126091146-126091151, 126095980-126095981, 126096084
641KCNQ380.9942726231386152619133492749-133492763
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643CYP11B280.99338624338624101512143993951-143993953, 143999085-143999091
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685OFD1X0.99967094438961303913753198
686PHKA2X0.9902912621359236370818912343-18912346, 18912352, 18912453-18912455, 18912496-18912503, 18913287-18913289, 18915381-18915396, 18926028
687RPS6KA3X0.995951417004059222320190959, 20194584-20194586, 20284682-20284686
688SMSX0.9836512261580418110121958946-21958950, 21958972-21958984
689ARXX0.91533451746596143168925031464-25031472, 25031483-25031485, 25031488-25031492, 25031513-25031538, 25031559-25031578, 25031646-25031707, 25031726-25031728, 25031769, 25031777-25031779, 25031896-25031906
690RPGRX0.79820757444348698345938144828-38144832, 38144869-38144872, 38144943-38144953, 38145008-38145028, 38145194-38145200, 38145211, 38145218, 38145278-38145864, 38145933-38145967, 38146072-38146073, 38146111, 38146114, 38146360-38146376, 38146461, 38147197-38147198, 38147225-38147226
691NYXX0.83817427385892234144641332757-41332763, 41332795-41332798, 41332826-41332847, 41333036-41333044, 41333104, 41333107-41333108, 41333132-41333166, 41333232-41333242, 41333294-41333304, 41333336-41333374, 41333407-41333448, 41333474-41333513, 41333943-41333953
692MAOAX0.999368686868691158443571185
693ZNF674X0.999427262313861174646359806
694WASX0.998011928429423150948547219-48547221
695FOXP3X0.995370370370376129649110490-49110493, 49113419, 49114852
696FGD1X0.9986139986144288654521739-54521742
697ARX0.9880564603691633276366765154-66765183, 66766357-66766359
698DLG3X0.991850040749820245469665066, 69665270-69665288
699MED12X0.999540863177233653470361098-70361100
700TAF1X0.9827525519183498568270586165-70586234, 70586256-70586257, 70586267-70586290, 70586336, 70587996
701SLC16A2X0.9923995656894714184273641389-73641391, 73641398-73641407, 73641756
702ATRXX0.999866292285061747976937118
703BRWD3X0.998890737659466540980064940-80064945
704CHMX0.997961264016314196285128146, 85128150-85128152
705PCDH19X0.9869933454325543330699662317, 99663322-99663334, 99663388-99663402, 99663445-99663446, 99663566-99663573, 99663585-99663588
706PLP1X0.9796163069544417834103042866-103042882
707CUL4BX0.9978118161925662742119694347-119694349, 119694356-119694357, 119694363
708GPC3X0.9994262765347111743133119476
709HPRT1X0.998477929984781657133607428
710ZIC3X0.9537037037037651404136648985-136648990, 136648994-136648997, 136649685-136649688, 136651121-136651145, 136651199-136651224
711SOX3X0.96271439224459501341139586142-139586161, 139586485-139586508, 139586692-139586697
712FAM58AX0.9292517006802752735152864462-152864480, 152864483-152864490, 152864495-152864518, 152864521
713SLC6A8X0.851153039832292841908152954030-152954270, 152956958-152956987, 152959465-152959467, 152959598, 152959640, 152959688-152959690, 152959701, 152959879, 152959884, 152959991, 152960250
714ABCD1X0.861930294906173092238152990727-152990737, 152990784, 152990796, 152990815-152990827, 152990833-152990871, 152990878-152990916, 152990966-152990972, 152990978-152990981, 152990993-152991011, 152991014-152991016, 152991051-152991068, 152991185, 152991257-152991270, 152991337, 152991342, 152991423-152991430, 153001566-153001576, 153001818-153001820, 153002653, 153002671, 153002675-153002690, 153005685-153005690, 153008466-153008486, 153008675-153008678, 153008728-153008734, 153008943-153008962, 153009043-153009081
715L1CAMX0.9978802331743583774153135541-153135548
716AVPR2X0.99014336917563111116153171391-153171400, 153171533
717MECP2X0.95858383433534621497153363061-153363122
718OPN1LWX0.92146118721461861095153416312-153416349, 153418494-153418527, 153420173-153420179, 153421909-153421915
719OPN1MWX0.815525114155252021095153448186, 153453337-153453343, 153453474-153453496, 153455583-153455630, 153455651-153455674, 153457286-153457309, 153458977-153459010, 153459043-153459083
720OPN1MWX0.806392694063932121095153485304, 153485308, 153490455-153490461, 153490592-153490614, 153492701-153492748, 153492769-153492792, 153494403-153494427, 153496091-153496128, 153496157-153496201
721FLNAX0.4673967774420942317944153577248-153577269, 153577321, 153577355-153577404, 153577730-153577738, 153577758-153577865, 153577898-153577899, 153577909-153577929, 153577933, 153578041, 153578055, 153578079-153578110, 153578124-153578144, 153578186-153578220, 153578231, 153578406, 153578417-153578420, 153578429-153578447, 153578462-153578469, 153578521-153578527, 153579283-153579322, 153579351-153579352, 153579362-153579371, 153579374-153579377, 153579383-153579387, 153579959-153579986, 153580262-153580269, 153580280, 153580314, 153580320-153580321, 153580324, 153580349, 153580377-153580381, 153580550-153580581, 153580613-153580616, 153580628-153580642, 153580658-153580703, 153580711-153580759, 153580770-153580776, 153580780-153580787, 153580792-153580797, 153580804-153580815, 153580950-153580980, 153581025, 153581030-153581043, 153581140-153581150, 153581170-153581194, 153581219, 153581224-153581226, 153581253-153581274, 153581277, 153581287, 153581290-153581291, 153581369-153581472, 153581479-153581536, 153581548-153581552, 153581559-153581572, 153581664, 153581674-153581692, 153581711-153581723, 153581731, 153581740-153581752, 153581768-153581790, 153581796, 153581813-153581814, 153581935, 153581954, 153581962-153581976, 153581980-153581984, 153582022-153582050, 153582074, 153582372-153582378, 153582562-153582584, 153582617-153582627, 153582630-153582647, 153582656, 153582819-153582822, 153582850-153582851, 153582984-153583077, 153583193-153583217, 153583260-153583263, 153583270, 153583273, 153583297-153583298, 153583327-153583358, 153583385-153583440, 153585636-153585642, 153585802-153585860, 153585870-153585876, 153585895-153585944, 153585978-153585979, 153586567-153586595, 153586614-153586641, 153586679-153586700, 153586721, 153586813-153586846, 153586855-153586894, 153586936, 153587352-153587433, 153587452-153587522, 153587614-153587715, 153587736, 153587742, 153587751-153587774, 153587852-153587887, 153587893-153587916, 153587936, 153587939-153587979, 153587989-153588014, 153588100-153588273, 153588369-153588434, 153588441-153588466, 153588477, 153588509-153588515, 153588519-153588533, 153588537, 153588551-153588614, 153588627-153588652, 153588676-153588691, 153588778, 153588819-153588861, 153588872-153588892, 153588898-153588955, 153589686-153589715, 153589721-153589784, 153589795-153589839, 153589845-153589869, 153589889, 153589935-153589938, 153590038-153590055, 153590067-153590095, 153590126, 153590131, 153590148-153590152, 153590347-153590360, 153590365-153590382, 153590386-153590390, 153590405-153590486, 153590506-153590516, 153590610-153590632, 153590660-153590676, 153590787-153590843, 153590850-153590897, 153591033, 153591042-153591059, 153591075-153591105, 153591123-153591145, 153592405-153592414, 153592439-153592448, 153592487-153592509, 153592524-153592533, 153592636-153592639, 153592658-153592698, 153592901-153592910, 153592919, 153592939-153592949, 153592966-153592995, 153593001, 153593029, 153593032, 153593039-153593050, 153593057, 153593232-153593237, 153593260, 153593269-153593288, 153593291, 153593311, 153593504-153593541, 153593570, 153593574, 153593583, 153593611, 153593717, 153593740-153593749, 153593773, 153593781-153593788, 153593819-153593854, 153594392-153594531, 153594548-153594580, 153594592, 153594676-153594688, 153594691-153594695, 153594724-153594725, 153594729, 153594761, 153594773-153594776, 153594821-153594838, 153594930-153594954, 153594985, 153595100-153595102, 153595106-153595134, 153595179, 153595765-153595789, 153595804-153595849, 153595899-153595901, 153596022-153596039, 153596042-153596043, 153596057-153596106, 153596215-153596225, 153596231-153596261, 153596275-153596283, 153596293-153596326, 153596337-153596342, 153596345-153596348, 153596378-153596379, 153596411, 153596450-153596458, 153599241, 153599266-153599301, 153599345-153599586, 153599592-153599613
722EMDX0.36078431372549489765153607845-153607849, 153607855-153607878, 153607890-153607926, 153608050-153608154, 153608302, 153608309-153608313, 153608326, 153608343-153608359, 153608594-153608656, 153608667-153608675, 153608681, 153608684-153608727, 153609117-153609152, 153609284-153609314, 153609320-153609377, 153609411-153609429, 153609444, 153609460, 153609504-153609527, 153609551-153609557
723TAZX0.78200253485425172789153640181-153640194, 153640208, 153640211-153640251, 153640260-153640266, 153640284-153640289, 153640423-153640437, 153640447-153640487, 153640508-153640535, 153640545-153640551, 153641820-153641831
724GDI1X0.98139880952381251344153665605-153665629
725G6PDX0.90354090354091581638153760265-153760305, 153760403-153760404, 153760459-153760461, 153760492, 153760620-153760628, 153760649-153760651, 153760654, 153760813, 153760919-153760924, 153761196-153761213, 153761218, 153761832, 153762611, 153762614-153762622, 153764173-153764174, 153775007-153775046, 153775067-153775085
726IKBKGX0.98975409836066151464153792573-153792587
727IKBKGX0.9693251533742315489153868340-153868354
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
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
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
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R4270Thet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), 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
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-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
2ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5RPGRIP1L-A229Thet unknown0.056Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.101 (benign), Testable gene in GeneTests with associated GeneReview
1.5NPC1L1-I1233Nhet unknown0.010Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
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)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT9-G126GSGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C1QTNF6-R226Hhomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C1QTNF6-P138Lhomozygous0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
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
1KRT83-V264MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPT9-P145Lhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C17orf77-C207*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
1TGFB1-T263Ihet unknown0.021Dominant
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MSH6-G39Ehomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1HLA-L-H17Rhomozygous0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-I30Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-R38ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-G88Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-A142Vhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1HLA-L-C172Yhomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AGL-K385Nhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1DPYD-S534Nhet unknown0.016Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCN9A-W1150Rhomozygous0.878Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCN9A-S490Nhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.296 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1KRT6B-Y497Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RHBG-G315Rhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NEURL4-R1406Hhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF19-R224Qhomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF19-A34Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M433Vhomozygous0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1F5-M1764Vhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-P1404Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhomozygous0.244Unknown
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-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-P174Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1LAMB3-A926Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1LAMB3-N690Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1LAMB3-V527Mhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
1LAMB3-N181Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.842 (possibly 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
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LAMC2-S733Thomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
1THAP7-A115ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75CDKN1A-S31Rhet unknown0.133Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shomozygous0.162Unknown
not reviewed
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
0.5GAA-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
0.5UNC13D-K867Ehomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1090Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT33B-Y294Dhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT33B-E85Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ULK2-V370Mhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK2-P242Shet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5ABHD15-R448Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5ABHD15-T334Ahet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MPDU1-A229Thomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-T544TKEThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (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
0.5SSH2-G1398Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SSH2-S743Lhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PIP4K2B-G185Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB3-L59Phomozygous0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CD300LG-T228Ahet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT34-R376Whet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT34-H348Rhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT34-I280Thet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-R142Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
0.5TEKT4-R424Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5TEKT4-P426Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TEKT4-T427Phet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAB3GAP1-N598Shomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KDM3A-I212Vhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KDM3A-C417Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX3-T316Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPCAM-A2Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GKN2-D65Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ATP6V1B1-M1Thet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V1B1-E161Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSTN-K153Rhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-R4127Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-P1151Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTN-I24325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-Q22304Phet 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-R13204Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7050Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T5015Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thomozygous0.211Unknown
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
0.5SLC3A1-Y461Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP4F2-V433Mhomozygous0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.5CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COMP-Q756Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF101-H360Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-L202Shet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-D205Ehet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TYK2-I684Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-G363Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TSPAN16-A41Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAN2B1-A481Shet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhomozygous0.373Unknown
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
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZBTB45-D293Ehet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-P906Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-P1089Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-P433Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-A252Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-S13Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR8-I331Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF471-G406Dhet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF471-P430Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LTBP4-V194Ihet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-R635Ghet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LTBP4-T787Ahet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T820Ahet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LTBP4-T1140Mhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EGLN2-S58Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.87 (probably damaging)
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
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D732Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNMBP-C1413Whet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.566 (possibly damaging)
0.5DNMBP-M831Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.987 (probably damaging)
0.5LIPA-T16Phomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
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
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC23IP-A241Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC23IP-K644Ehet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OLFML1-E113Vhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OLFML1-A259Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYO7A-L16Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MTMR2-K3Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5PLEKHA7-T236Rhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-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
0.5PEX16-V254Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYDE2-V1157Ihomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-V569Ihomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYDE2-S422Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SYDE2-E118Ghet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPRF-H1730Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KCNQ4-H455Qhomozygous0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5CLCNKB-R27Lhomozygous0.523Unknown
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-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A609Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-LE1031RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-E1037Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5CROCC-R1049Hhet 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)
0.5KIAA1522-P116Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1522-M291Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1522-S820Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhomozygous0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP3-E138Ghet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OBSCN-A908Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-L2164Vhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
0.5OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-H4489Qhomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4534Hhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-R5575Hhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.276 (possibly damaging)
0.5OBSCN-P6272Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.402 (possibly damaging)
0.5OBSCN-A7172Vhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5PCNXL2-N2065Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DISC1-S704Chet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5DISC1-E751Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FMO2-F81Shet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FMO2-S195Lhomozygous0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-N413Khet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCF2-K181Rhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-E945Qhet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CEP350-T1446Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.5CD3G-V131Fhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INF2-PP425LLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INF2-KLTE787MLMVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CR623477-V188LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-Q168QRShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-C145RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-Q139Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-A133Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CR623477-Q123Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-Y67Hhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR623477-SS44Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-G39Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AVEN-G234Whet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5AVEN-V203Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFYVE19-P11Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.894 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TECPR2-V320Ihomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CINP-N53Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RAD51L1-L172Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.721 (possibly damaging)
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
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-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
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CES1-A270Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CES1-D204Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CES1-S76Nhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRSS21-P186Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-R1241Qhet unknownUnknown
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
0.5NID2-G760Vhomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-S656Phomozygous0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P529Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging)
0.5NID2-G453Dhomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P22Qhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADCY6-R138Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
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)
0.5RASAL1-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)
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-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
0.5SCNN1A-T722Ahet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCNN1A-W552Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCNN1A-R240Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACADS-G209Shomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPPP2-Y165*het unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehomozygous0.433Unknown
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
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-G454Chet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5BTNL2-P393Qhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BTNL2-M380Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.225 (possibly damaging)
0.5BTNL2-P379Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BTNL2-S360Ghomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D336Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.583 (possibly damaging)
0.5BTNL2-M295Vhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5BTNL2-D283Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BTNL2-R281Khet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BTNL2-A202Vhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-T165Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5HLA-DRB5-L67Vhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DRB5-D59Ghomozygous0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-R33*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-DRB5-G30Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DRB5-M20Thet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5HLA-DRB5-K14Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S229Nhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T217Ihet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-EV98DIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S35Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-VA15APhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-F-K56Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-V57Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-D123Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-M126Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-S128Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MXD3-E185Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E47Khet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G181*het unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZBTB22-E591Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBTB22-T310Ahet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0415-L375Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PMS2-M622Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.591 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghet unknown0.774Unknown
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-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-D1639Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TDRD6-P231Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TDRD6-T398Ahomozygous0.860Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TDRD6-Q1014Ehomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.952 (probably damaging)
0.5TDRD6-N1875Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EYS-W1837Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-K532Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSB-V376Mhomozygous0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-T689Ahet unknown0.006Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.862 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), 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
0.5SLC1A3-E219Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
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
0.5ALPK1-T458Ahet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALPK1-H642Rhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-S710Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALPK1-M861Thet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-E1134Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT4-Q1257Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5FAT4-G3524Dhomozygous0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5FAT4-S3873Nhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHAX-R82Chet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAT2-P4117Lhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Q3953Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FAT2-M3631Ihomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GEMIN5-R682Qhomozygous0.837Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SGCD-R96Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOX30-Q429Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NIPAL4-S453Lhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhet unknown0.722Unknown
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
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V2525Ihet unknownRecessive
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-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB31-V783Ahomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
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
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5REXO4-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
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-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
0.5MAPK15-R260Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MAPK15-T381Phet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SHARPIN-P294Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SHARPIN-S282Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.86 (probably damaging)
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HSD17B3-G289Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-R7Whet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehomozygous0.297Unknown
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
0.5DBH-A211Thet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1F-R1930Hhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OGT-H364Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OGT-LA367C*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5OGT-S369Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRE-P437Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GABRE-S102Ahomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
0.5FRMD7-R468Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGR-A781Thet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-G566Ehet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-T533Mhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-Q527Delhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-R425Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPGR-I75Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNAPC4-D40Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5C8G-R69Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.9 (probably damaging)
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5FANCB-G335Ehet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL22A1-L1483Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5COL22A1-A938Dhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL22A1-P703Thet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL22A1-S320Ghet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NOV-C15Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5NOV-R42Qhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFTR-V470Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFTR-R1162Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-V227Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Q280Rhet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR15-P124Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DDC-R462Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBDS-I212Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5OR2F1-R122Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5OR2F1-H137Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.179 (benign)
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5POTEA-C337Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.163 (benign)
0.5POTEA-H470Phet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5POTEA-E485Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1L1-M265Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5PKHD1L1-H923Rhet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-T1192Ahet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5PKHD1L1-R1514Shet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-Y1638Chet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5PKHD1L1-V1965Lhet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1L1-H3050Qhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13B-A829Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-N302Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-F185Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-Q359Phet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
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-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), 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
0.5LPL-S474*het unknown0.084Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5HR-T1022Ahet unknown0.097Recessive
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-P319Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5EPHX2-R103Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5CHRNA2-T125Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIRT5-E305Ghet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.861 (probably damaging)
0.5APOBEC3B-K62Ehet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APOBEC3B-S109Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5APOBEC3B-T146Khomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGT2B7-Y268Hhomozygous0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5IGSF5-N156Khet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5IGSF5-R170Whet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5CCDC116-S219Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMP9-Q279Rhomozygous0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALT5-G61Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.303 (possibly damaging)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5SEC14L4-E211Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5SEC14L4-S3Ghet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIOBP-G131Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5COL6A1-R850Hhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-D227Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-Q881Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDF2L1-R161Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABCF3-P503Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.554 (possibly damaging)
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-A1194Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-A2891Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RTP4-T79Ihet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.669 (possibly damaging)
0.5RTP4-D109Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5RTP4-C169Yhet unknown0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TNIP2-E255Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNIP2-R73Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5NPHP3-A1184Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHP3-A52Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DMP1-Q143Khet unknown0.001Unknown
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
0.5GBE1-T507Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTTP-I128Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-H297Qhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTTP-G661Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QARS-N285Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-W193Chet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPM8-R247Thet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5ID1-N63Dhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.84 (possibly damaging)
0.375ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-R2107Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC25A15-R236Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-V368Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCDH15-E878Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.375PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PEX6-A79Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NOD2-N852Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375B3GALTL-G369Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.375TCOF1-P730Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C11orf35-V46Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C11orf35-A44ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM59B-T239Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM59B-Q407Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AAK1-Q535Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AAK1-K509Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB4-R652Ghet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FJX1-R205Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FJX1-A211Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-T400Khet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THADA-C1605Yhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1187Ahet unknown0.156Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25THADA-V699Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFI44L-H73Rhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI44L-I235Thet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFI44L-Y291*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C1orf141-M340Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf141-V189IhomozygousUnknown
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
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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
0.25CLCNKA-A447Thet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNFRSF1B-E232Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ESPN-E159Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ESPN-R546Chet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZXDA-H141Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZXDA-Q138Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZXDA-A133Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25FUCA1-L134Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZC3H3-S399Ghomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZC3H3-S375Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZC3H3-R168Whet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.858 (probably damaging)
0.25ZC3H3-E151Dhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD36-K5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD36-N440Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD36-W621Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD36-P1126Qhomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD36-W1280Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD36-V1478Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25TANC1-N251Shomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TANC1-P1574Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25ZNF517-H131Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF517-V349Ahomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25TMEM81-F100Shet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ZNF749-Y224Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF749-Q243Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF749-I771Rhet unknown0.639Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GINS3-Q93Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GINS3-MW96IChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25REXO1-S759Phet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REXO1-E642Delhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REXO1-V408Ahet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REXO1-L245Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C19orf22-L73Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C19orf22-KS68IRhet 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-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.154Unknown
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-P2045Lhomozygous0.325Unknown
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-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V1505Mhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phet unknown0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L1255Fhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*homozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-G129Dhomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1R-L364Hhet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25SYCE1L-T16Ahomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SYCE1L-E164Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYCE1L-R178QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SYCE1L-P210Thomozygous0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-V52Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ICAM1-V330Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FGFR4-P136Lhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25SH3TC1-L437Phomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH3TC1-R785Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH3TC1-V982Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KREMEN2-A408Phet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KREMEN2-P412Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-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
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Q230Rhet unknown0.042Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25EPX-Q122Hhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25EPX-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CDC27-N642Khet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-Y641Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-L619Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-F617Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-H615Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-TL611SAhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-S584Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDC27-I511Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BANK1-A383Thet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZBTB4-N561Shomozygous0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.792 (possibly damaging)
0.25ZBTB4-A5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LMAN1-M410Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERAP2-C269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERAP2-R751Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SREK1IP1-G128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SREK1IP1-K121Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEXB-I207Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANTXR2-A357Phet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRP-R4Shomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRP-R141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RPAP1-Q825Ehomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RPAP1-R582Ghet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.25ZNF224-M118Vhet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
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
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-L545Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25VWF-Q852Rhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTS8-T792Ahet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS8-A525Vhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTS8-E78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCR2-V64Ihet unknown0.114Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C12orf68-E140DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf68-D171Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLXND1-S1542Nhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-L1412Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-H894Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-M870Vhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-P617Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLXND1-G531Shet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-S113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG6-S619PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BAG6-T391Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SDHAF1-Q8Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SDHAF1-C90Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25WDR62-Y274Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR62-Q1310Lhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR62-L1390Fhomozygous0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V244Lhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC16A-G1202Shomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC16A-P1289Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPINA1-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
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FANCE-A502Thet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SI-M1523Ihomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SI-E243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SI-T231Ahet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SI-V15Fhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0FLNA-G2237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,729,736,114 bases (96.4% of callable positions, 90.3% of total positions)

Coding region coverage: 31,763,037 bases (95.6% of all genes, 96.2% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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