hu6E4515 - GET-Evidence variant report

Variant report for hu6E4515

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-G1961EHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00269567This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.1
2COL7A1-P2847ShiftHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function.1
3PPT1-M57ShiftHighUncertainUncertain not reviewed

Unknown, Heterozygous
Although there are no known reports for this variant, this is predicted to be very disruptive. Other disruptive mutations in this gene cause infantile Neuronal ceroid-lipofuscinosis in a recessive manner, this variant is predicted to have the same effect.1
4CEP290-D983ShiftHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber's Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect.1
5C3-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
6MYO1A-G662EModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0257483Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.1
7EDNRB-Y293ShiftModerateUncertainUncertain pathogenic

Complex/Other, Heterozygous
Reported as "EDNRB, 1-BP INS, 878T" in OMIM, this frameshift variant has been reported to cause increased susceptibility to Hirschsprung's disease (partial lack of nerves in the bowel, potentially leading to severe constipation and digestive issues). It may also be associated with Waardenburg syndrome type 4 in a recessive or incomplete-dominance manner.1
8PIGR-A580VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.247537In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10MBL2-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
11WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
12ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
13SP110-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
14TP53-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
15SLC5A2-N654SLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00706451Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.1
16H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
17ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, 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
19PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
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
21TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 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
23COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
24FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
25FANCA-M717ILowLikelyLikely benign

Unknown, Heterozygous
0.0216583Rare polymorphism, not considered pathogenic.1
26NOTCH3-A1020PLowLikelyLikely benign

Unknown, Heterozygous
0.111835Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.1
27PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
28ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
29MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
30GAA-E689KLowUncertainUncertain benign

Complex/Other, Heterozygous
0.0301845This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.1
31VCAN-T689ALowUncertainUncertain benign

Unknown, Heterozygous
0.00644137Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.1
32RP1-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
33PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
34ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
35ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
36APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
37DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
38SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
39PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
40TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
41MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
42TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
43TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
44NKX2-5-E21QLowUncertainUncertain benign

Unknown, Heterozygous
0.000470189Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism.1
45AARS-K967MLowUncertainUncertain benign

Unknown, Heterozygous
0.0107827Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31756872 / 33282720 = 95.42%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.77370478983413896138955553-955753, 957660, 957704, 957710-957719, 957756-957774, 976045-976087, 976097-976121, 976137-976181, 976197-976260, 976553-976669, 976677-976734, 976776-976777, 976898-976929, 976961-976971, 977040, 977060-977080, 977517-977532, 978687, 978697-978704, 978709-978715, 978728, 978749, 978752-978753, 978767-978772, 978950-978952, 979058, 979384-979388, 979493-979494, 981779-981797, 981821-981854, 981858, 981872-982037, 982069-982089, 982217-982219, 982225-982235, 982246-982253, 982322, 983008-983011, 983219, 983231, 983241-983242, 983406-983441, 983451-983457, 983478-983512, 983536-983542, 983558, 983564-983576, 983589-983745, 984306, 984416-984439, 984686-984692, 984701-984711, 984716-984717, 985613, 985667-985695, 985848-985853, 986188-986196, 986633, 986683-986690, 986833-986869, 986952-986957, 987011, 987191-987195, 990276-990284
2GABRD10.9418690213397913591950863-1950930, 1957033-1957040, 1961134, 1961137, 1961486
3PEX1010.856269113151419812337205-2337208, 2337923-2337944, 2337951-2337959, 2338282, 2338322, 2339988-2339989, 2339996-2340004, 2340205, 2340212-2340215, 2343830-2343833, 2343841-2343886, 2343894-2343907, 2343918-2343941
4NPHP410.97640738145310142815925300, 5925322-5925328, 5935061-5935067, 5935079-5935080, 5935084-5935085, 5935091-5935160, 5947484-5947492, 5969232-5969233, 6008248
5ESPN10.63625730994293325656485016-6485180, 6485194-6485202, 6485208-6485242, 6485249-6485265, 6485274-6485293, 6485299, 6485304-6485309, 6488333, 6488378-6488392, 6500314, 6500373-6500377, 6500410-6500458, 6500494-6500495, 6500686-6500868, 6501032-6501041, 6501049, 6501054, 6501058-6501065, 6505726-6505738, 6505838-6505883, 6508701-6508783, 6508807-6508859, 6508876-6509064, 6509082-6509092, 6509108, 6509116-6509121, 6512130, 6517319
6PLEKHG510.88773910316735831896528255-6528257, 6530367, 6530585, 6530851-6530854, 6530935-6530944, 6531571-6531609, 6532651-6532669, 6533405-6533416, 6534080-6534173, 6534179-6534185, 6534198-6534224, 6534511-6534647, 6557380-6557383
7KIF1B10.9960474308321531310356997-10357003, 10357013-10357026
8PEX1410.96737213403937113410690008-10690044
9TARDBP10.994377510047124511082356-11082362
10MASP210.9970887918496206111094888-11094893
11MTHFR10.99289700659614197111853987, 11854871-11854875, 11861371-11861372, 11863114-11863119
12PLOD110.97573260073353218411994837-11994847, 11994858-11994889, 12010469-12010470, 12018617, 12023651, 12023656, 12023660-12023664
13CLCNKA10.95494186046593206416353251-16353254, 16355301-16355331, 16355339-16355340, 16356479, 16357061, 16357064, 16358212-16358225, 16358268-16358274, 16358720-16358741, 16358771-16358780
14CLCNKB10.99418604651212206416374486, 16374515-16374518, 16383399-16383405
15ATP13A210.956534010725154354317312739-17312746, 17312801, 17313339-17313341, 17313352-17313357, 17313612-17313657, 17313680-17313686, 17314636, 17314919-17314923, 17314937-17314942, 17320278-17320321, 17322482-17322483, 17322487-17322489, 17322493, 17322498, 17322502-17322505, 17322588-17322594, 17323562-17323563, 17326741-17326742, 17327008, 17331930-17331933
16ALDH4A110.98877068557919169219202920-19202922, 19204003, 19204028-19204029, 19204034-19204035, 19228997-19228998, 19229002-19229003, 19229007-19229013
17PINK110.772623138603397174620960042-20960428, 20975061-20975064, 20975075-20975080
18ALPL10.99238095238112157521900284, 21903900-21903906, 21904076-21904077, 21904084, 21904087
19HSPG210.9864146933821791317622149847-22149852, 22149930, 22156515-22156518, 22167701, 22167754, 22168110, 22168113, 22170692-22170707, 22170776-22170777, 22181413-22181417, 22181447-22181466, 22191438-22191452, 22192231, 22198699-22198702, 22199499-22199503, 22199512, 22199525-22199528, 22207020-22207021, 22207252-22207263, 22207285-22207291, 22213708-22213714, 22263648-22263710
20WNT410.883522727273123105622446688, 22446859-22446868, 22447955-22447989, 22469339-22469415
21GALE10.9971346704873104724122659-24122660, 24122755
22FUCA110.98501070663821140124194487, 24194491-24194494, 24194741-24194756
23LDLRAP110.88673139158610592725870190-25870277, 25890186, 25893442-25893445, 25893466-25893476, 25893483
24SEPN110.889088729017185166826126722-26126904, 26138360-26138361
25HPCA10.9295532646054158233359387-33359406, 33359418-33359438
26GJB310.9975399754281335251054-35251055
27COL9A210.97584541062850207040768406-40768408, 40769493-40769500, 40769504, 40769508, 40781295-40781311, 40781317-40781323, 40782857-40782869
28KCNQ410.861111111111290208841249766-41249908, 41249922-41249935, 41249943, 41249946-41249947, 41249987-41249993, 41250006-41250021, 41250038-41250040, 41284193-41284224, 41284239-41284263, 41284289, 41284295-41284310, 41284321, 41284324, 41296825-41296828, 41296973-41296975, 41303987, 41303993-41303998, 41304048, 41304118-41304123, 41304132-41304135, 41304169-41304171
29CLDN1910.9377777777784267543201549-43201590
30LEPRE110.92039800995176221143212431, 43232180-43232214, 43232252-43232280, 43232387, 43232395-43232401, 43232479-43232539, 43232586-43232606, 43232622-43232642
31SLC2A110.9932386747810147943393367-43393368, 43424315-43424322
32MPL10.96960167714958190843805714-43805715, 43814936-43814957, 43814979-43815011, 43818356
33MUTYH10.99235181644412156945797119, 45797124, 45797135-45797140, 45798095-45798096, 45798456, 45798460
34CPT210.99443601416311197753662617-53662620, 53678978-53678984
35DHCR2410.850419084462232155155340771, 55352562-55352792
36PCSK910.929773929774146207955505529, 55505538-55505565, 55505590, 55518403-55518409, 55521688-55521735, 55521756-55521766, 55521775, 55524184-55524192, 55524254-55524281, 55529180, 55529206-55529216
37GLMN10.999439775911178592733535
38RPL510.9876957494411189493307396, 93307405-93307414
39ABCA410.99677513925522682294497392-94497410, 94497415-94497417
40DPYD10.9980506822616307897848000-97848005
41COL11A110.9794759025111125457103363681-103363702, 103364222-103364241, 103364272-103364290, 103364315-103364328, 103364522, 103364527-103364535, 103364543-103364550, 103435797-103435802, 103440420, 103471827-103471829, 103471833-103471837, 103471854-103471857
42GSTM110.9893455098937657110235885-110235891
43AMPD110.99910873440322244115236067-115236068
44NGF10.9944903581274726115828707-115828710
45PHGDH10.99937578027511602120278051
46NOTCH210.9862459546931027416120458206-120458209, 120539665-120539690, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120572609-120572610, 120611957-120611967, 120612003-120612010
47HFE210.99765807962531281145415575-145415577
48FLG10.9983587723622012186152276686, 152277524, 152277527, 152279403-152279409, 152280081-152280083, 152282291-152282292, 152283975, 152286125-152286128
49CHRNB210.946322067594811509154540521-154540534, 154540556-154540565, 154540571-154540583, 154544089, 154544247-154544265, 154544268, 154544271, 154544381-154544390, 154544405, 154544408-154544418
50PKLR10.99826086956531725155269991-155269993
51LMNA10.9929453262794567156105052, 156105759-156105761
52LMNA10.985463659148291995156084726, 156084730-156084731, 156084739, 156084743-156084756, 156100452, 156105052, 156105759-156105761, 156108297, 156108304-156108307, 156108338
53SEMA4A10.975503062117562286156124430-156124438, 156130806, 156131137-156131138, 156131209-156131233, 156131243, 156131249-156131252, 156146427-156146430, 156146559-156146568
54NTRK110.9535759096611112391156830727-156830809, 156830818-156830831, 156837945-156837950, 156843446, 156843451-156843456, 156843588
55NDUFS210.99856321839121392161172215, 161172218
56MPZ10.92664092664157777161275905-161275913, 161275950, 161276185-161276186, 161279635, 161279651-161279675, 161279685-161279693, 161279699-161279704, 161279710-161279713
57SLC19A210.995314591771494169454935-169454941
58F510.99191011236546675169509580, 169510337-169510343, 169510472-169510478, 169510568-169510606
59FMO310.99874921826121599171077351-171077352
60DARS210.99845201238431938173819513, 173819516, 173819521
61NPHS210.933159722222771152179544816, 179544864-179544904, 179544941-179544949, 179544957-179544973, 179544976-179544977, 179544990-179544996
62LHX410.990622335891111173180199672-180199682
63RNASEL10.989218328841242226182555114-182555115, 182555271-182555291, 182555297
64LAMC210.996091568956143582183201437-183201450
65HMCN110.999940856399116908185897744
66CFH10.98538961039543696196654199-196654202, 196658717-196658740, 196659193-196659211, 196682989-196682990, 196706611-196706614, 196715024
67CFHR110.186304128902808993196794607-196794801, 196795959-196796135, 196797200-196797319, 196797354, 196799630-196799812, 196800927-196800948, 196800982-196801057, 196801096-196801129
68CFHR510.991228070175151710196963255-196963269
69ASPM10.999137435308910434197063309-197063310, 197115496-197115502
70CACNA1S10.992885094273405622201009382-201009397, 201022698-201022715, 201038651-201038654, 201081387, 201081390
71LAMB310.99829497016263519209790796, 209790799, 209800765, 209800769, 209800890-209800891
72IRF610.99857549857521404209961862, 209969820
73USH2A10.9992312127621215609215823937, 215823943, 215916553-215916558, 216496932-216496935
74PSEN210.99851521900521347227071480-227071481
75ADCK310.994855967078101944227152804-227152810, 227153379, 227153431, 227171873
76GJC210.15984848484811091320228345460-228345463, 228345484-228345506, 228345523-228345696, 228345714-228345878, 228345891-228345898, 228345909-228345956, 228345962-228346194, 228346208-228346269, 228346281-228346551, 228346573-228346693
77ACTA110.8580246913581611134229567492-229567496, 229567793-229567797, 229567849-229567881, 229567892-229567932, 229568017-229568027, 229568093-229568125, 229568162-229568170, 229568332-229568346, 229568455-229568463
78AGT10.987654320988181458230845781-230845784, 230845788, 230845988-230846000
79LYST10.9969314395933511406235896819-235896821, 235896970, 235897165-235897173, 235944279, 235950500-235950513, 235969206-235969212
80ACTN210.9452513966481472685236849974-236850099, 236907981-236907982, 236917289, 236917302-236917303, 236917348-236917354, 236924415-236924423
81MTR10.99973670352813798237013802
82RYR210.99214975845411714904237205838-237205845, 237205862-237205869, 237656279-237656284, 237656291-237656311, 237666687, 237796906, 237821244-237821285, 237821293-237821322
83FH10.99412915851391533241661136-241661138, 241661156, 241663849, 241672049-241672052
84NLRP310.992606878817233111247582289-247582304, 247587704, 247588036-247588037, 247588043, 247588053-247588055
85NET1100.9927414852041317915454669-5454675, 5454679-5454684
86GATA3100.9692883895134113358097641-8097647, 8097732-8097763, 8100745, 8100748
87OPTN100.9994232987311173413174098
88PHYH100.95575221238945101713330452, 13330455, 13341974-13341995, 13342022-13342042
89DCLRE1C100.9995189995191207914970144
90CUBN100.995584988962481087216882332, 16960700, 16960709, 16960712, 17026107-17026113, 17085866-17085888, 17085925-17085938
91PTF1A100.27862208713371298723481460-23482164, 23482170-23482176
92PDSS1100.904647435897119124826986641-26986710, 26986716-26986764
93RET100.965022421525117334543572707-43572779, 43600564-43600603, 43606878, 43606883-43606884, 43615084
94ERCC6100.99576082106219448250681017, 50740816-50740833
95CHAT100.891410769915244224750822236-50822246, 50822272-50822504
96PCDH15100.99643402954721588955587192-55587195, 55587205, 55587209, 55626439, 56128978-56128991
97EGR2100.93361285814195143164573080, 64573102, 64573117, 64573120, 64573325, 64573329, 64573334-64573344, 64573467-64573504, 64573513-64573520, 64573529-64573535, 64573558-64573582
98NODAL100.9971264367823104472201328-72201330
99PRF1100.98561151079124166872358258-72358263, 72358338-72358344, 72358474-72358484
100PCBD1100.990476190476331572648288-72648290
101CDH23100.984387430391571005673375319-73375327, 73464782-73464785, 73464803-73464808, 73464819, 73490302-73490308, 73501554-73501556, 73501604-73501612, 73537472-73537518, 73544790, 73550073-73550081, 73550103-73550126, 73563020-73563027, 73565731-73565741, 73565938-73565946, 73569657, 73574831-73574833, 73574838, 73574845-73574848
102PSAP100.998730158732157573587858, 73594176
103VCL100.950367107195169340575757968-75757996, 75758007-75758113, 75849029, 75854071-75854099, 75854115-75854116, 75854121
104LDB3100.951923076923105218488466308-88466313, 88476084-88476093, 88476162-88476196, 88476229-88476234, 88476241-88476259, 88476264-88476270, 88476282-88476302, 88476360
105BMPR1A100.9956222639157159988683143-88683149
106GLUD1100.847942754919255167788854163-88854170, 88854174-88854175, 88854178, 88854209-88854219, 88854239-88854262, 88854294-88854338, 88854348-88854390, 88854399-88854427, 88854435-88854526
107LIPA100.99166666666710120090974618-90974620, 91007354-91007360
108ANKRD1100.997916666667296092675628-92675629
109PDE6C100.9996119518821257795372703
110ZFYVE27100.9951456310686123699512911-99512913, 99518996-99518998
111HPS1100.988129154796252106100177366-100177384, 100177950, 100183561-100183563, 100186994, 100190946
112COX15100.99432278994371233101491751-101491757
113PAX2100.979984603541261299102587323-102587329, 102587403-102587421
114C10orf2100.99951338199512055102748068
115FBXW4100.934624697337811239103371414-103371415, 103436141-103436150, 103454185, 103454215-103454246, 103454310-103454323, 103454329-103454350
116HPS6100.7152061855676632328103825232-103825526, 103825568-103825571, 103825575-103825583, 103825593-103825646, 103825652, 103825669-103825825, 103825841-103825868, 103826023-103826050, 103826127-103826141, 103826174-103826185, 103826217-103826254, 103826290, 103826298-103826310, 103826401-103826403, 103827446-103827449, 103827452
117SUFU100.8934707903781551455104263918-104264047, 104264055-104264079
118CYP17A1100.99934512115311527104590634
119COL17A1100.99888740542954494105793823-105793826, 105798246
120SHOC2100.99942824471111749112769073
121HABP2100.994058229352101683115341846-115341853, 115341857, 115341860
122EMX2100.826086956522132759119302790-119302806, 119302833-119302865, 119302876-119302893, 119302926-119302960, 119302993-119303009, 119303015-119303018, 119303109-119303116
123BAG3100.895254629631811728121411188-121411367, 121436212
124HTRA1100.729729729733901443124221169-124221517, 124221528-124221532, 124221558-124221563, 124221605-124221627, 124266243-124266249
125ACADSB100.990762124711121299124768576-124768587
126UROS100.9987468671681798127477544
127HRAS110.97368421052615570534212-534226
128TALDO1110.917159763314841014747482-747495, 747520-747563, 747575-747578, 763344-763347, 763396, 763404-763405, 763430-763440, 763448-763449, 763512-763513
129SLC25A22110.819958847737175972791929-791930, 792603-792694, 792712-792724, 792870-792909, 792932-792934, 794784-794800, 794806-794809, 794884-794887
130PNPLA2110.7848184818483261515819719-819905, 823586-823587, 823728-823759, 823787-823794, 823802, 824025-824038, 824095-824120, 824375-824420, 824780-824789
131CTSD110.85068603712718512391774747, 1775033-1775034, 1775098-1775106, 1775224-1775225, 1775234-1775242, 1775252-1775297, 1775331-1775345, 1775351-1775368, 1778608-1778614, 1780202-1780208, 1782582, 1785022-1785089
132TNNI2110.850637522769825491861463-1861468, 1861633-1861634, 1861664-1861667, 1861671-1861673, 1861758-1861763, 1861783-1861795, 1861802-1861806, 1861812-1861819, 1861864, 1862049-1862062, 1862321, 1862332-1862336, 1862340-1862346, 1862360-1862364, 1862402, 1862406
133TNNT3110.978120978121177771946331-1946346, 1955224
134H19110.9131652661069310712017784, 2017792-2017793, 2017799-2017805, 2017816-2017832, 2017864-2017876, 2017916-2017921, 2018059-2018100, 2018123, 2018297-2018299, 2018440
135IGF2110.7482419127991797112154333-2154341, 2154349-2154353, 2154365, 2154378-2154379, 2161365-2161526
136TH110.89396825396816715752187710-2187715, 2187753-2187761, 2187771-2187779, 2187863-2187864, 2187960-2187998, 2188120-2188127, 2191013-2191038, 2191926-2191962, 2191970-2192000
137KCNQ1110.82373215164935820312466329-2466580, 2466590-2466659, 2466669-2466684, 2466697-2466714, 2608800, 2608804
138CDKN1C110.2271293375397359512905275-2905279, 2905283, 2905289-2905290, 2905294, 2905310-2905312, 2905900-2906480, 2906487-2906528, 2906540-2906542, 2906556-2906597, 2906611-2906641, 2906684-2906690, 2906703-2906719
139SMPD1110.9604430379757518966411934-6411939, 6411955-6411965, 6412659-6412661, 6412742-6412768, 6412780-6412784, 6412869-6412871, 6412977, 6412982-6412986, 6413003-6413012, 6413096, 6413222-6413224
140TPP1110.998226950355316926637678, 6638369, 6638547
141SBF2110.9893693693695955509838421-9838423, 9838519, 10315562-10315616
142KCNJ11110.9991474850811117317408527
143ABCC8110.99325747998332474617498284-17498295, 17498297, 17498305-17498323
144USH1C110.926666666667198270017531089-17531226, 17531236-17531242, 17531288-17531340
145LDHA110.998998998999199918424494
146ANO5110.98760029175834274222276961-22276964, 22276987-22277016
147FANCF110.95644444444449112522646833-22646857, 22647245-22647268
148PAX6110.9929078014189126931811482-31811487, 31824300-31824302
149WT1110.749678249678389155432456317, 32456321-32456326, 32456330, 32456335-32456344, 32456437-32456440, 32456479-32456482, 32456498-32456538, 32456544-32456560, 32456587-32456891
150ALX4110.895631067961129123644331147-44331184, 44331192-44331232, 44331254-44331274, 44331287-44331310, 44331319-44331321, 44331327-44331328
151SLC35C1110.868371212121139105645827436-45827441, 45827477-45827478, 45827630-45827674, 45827688-45827706, 45827789-45827848, 45827854-45827860
152PEX16110.95389048991448104145937372-45937387, 45939270-45939301
153DDB2110.9976635514023128447236783-47236785
154MYBPC3110.9976470588249382547371434-47371437, 47371463-47371467
155SLC39A13110.9731182795730111647431726-47431731, 47435022-47435024, 47435029-47435030, 47435035-47435053
156RAPSN110.96125907990348123947460397-47460400, 47460405-47460406, 47460416-47460420, 47463217-47463224, 47463375-47463382, 47463405-47463413, 47463418, 47463432-47463438, 47469390-47469393
157SERPING1110.96606786427151150357365744-57365794
158GIF110.9968102073374125459599162-59599163, 59599166-59599167
159BEST1110.98065984072834175861719310-61719311, 61723229, 61723271, 61723275, 61723343, 61723359-61723361, 61723390-61723397, 61725741-61725757
160ROM1110.94507575757658105662380758-62380766, 62380771-62380782, 62380828-62380840, 62381090-62381112, 62381223
161BSCL2110.9985601151912138962457946-62457947
162SLC22A12110.94223826714896166264359165-64359177, 64359306-64359314, 64360329-64360332, 64367165, 64367168, 64367245-64367311, 64367322
163PYGM110.99565045472511252964514786, 64521035-64521043, 64521124
164MEN1110.96753246753260184864572248-64572256, 64572567-64572573, 64577170, 64577174, 64577538-64577579
165RNASEH2C110.9191919191924049565488103-65488113, 65488118-65488123, 65488128, 65488164-65488168, 65488179-65488183, 65488192-65488194, 65488204-65488212
166EFEMP2110.9992492492491133265635434
167CST6110.9133333333333945065779584, 65779597, 65779602-65779604, 65780297-65780307, 65780347-65780354, 65780407-65780421
168BBS1110.9949494949499178266281971-66281975, 66299433-66299436
169SPTBN2110.99344765091347717366453472-66453473, 66453478-66453480, 66453485, 66453490-66453491, 66453497, 66453500, 66455040-66455044, 66455678, 66457632, 66460720-66460726, 66461294, 66463760, 66468005, 66472221, 66472522, 66472525, 66472592-66472593, 66472622-66472631, 66472641, 66473193, 66475187, 66475204-66475205
170PC110.98445009895455353766618344-66618345, 66618349, 66618354-66618355, 66618359, 66618368, 66618372-66618373, 66618377-66618379, 66618569, 66620062, 66620068-66620075, 66633677, 66633684-66633687, 66633691, 66633695-66633700, 66633709, 66633713-66633723, 66633765-66633771, 66639212-66639213
171AIP110.938569989936199367257527-67257535, 67257541-67257548, 67257787-67257826, 67257928, 67258293, 67258297-67258298
172NDUFV1110.98494623655921139567379909-67379929
173NDUFS8110.9447077409163563367799795-67799799, 67803749-67803755, 67803929-67803945, 67803954-67803959
174TCIRG1110.944645006017138249367810261-67810286, 67810932-67810959, 67811038-67811042, 67811320, 67811325-67811326, 67811334-67811358, 67811789, 67816555-67816559, 67816565, 67816570-67816575, 67816581, 67816673, 67817171-67817206
175LRP5110.966377887789163484868080183-68080273, 68131215, 68131219, 68133051-68133067, 68153793-68153807, 68154166, 68154171, 68204447, 68206053-68206057, 68206096, 68207298-68207301, 68207367-68207384, 68216334-68216340
176CPT1A110.99526270456511232268564325-68564328, 68571482-68571488
177IGHMBP2110.9912810194526298268671466-68671481, 68704383-68704386, 68704530-68704535
178DHCR7110.94397759103680142871146452-71146461, 71146484-71146503, 71146508, 71146517-71146520, 71146566-71146572, 71146574-71146577, 71146581-71146584, 71146594-71146601, 71146714-71146722, 71146830-71146842
179MYO7A110.99232851985651664876874032-76874034, 76890868-76890905, 76893193-76893200, 76914107, 76914187
180FZD4110.98884758364318161486666046-86666048, 86666067-86666071, 86666089-86666090, 86666095-86666097, 86666099-86666103
181MTMR2110.9901656314719193295591780, 95657095-95657108, 95657111-95657114
182TRPC6110.996423462089102796101454166-101454175
183DYNC2H1110.9903437620712512945102991483-102991486, 102991676, 102991725-102991726, 103006345, 103006351, 103006658, 103029521-103029529, 103029535, 103029538, 103043816-103043846, 103044022-103044024, 103057045-103057066, 103062246-103062280, 103062348, 103070780, 103106411-103106418, 103126154, 103128412, 103158279
184ACAT1110.969626168224391284107992343-107992381
185ATM110.995202268019449171108098600-108098604, 108114680, 108126999-108127023, 108188185-108188187, 108196207-108196215, 108202244
186RDX110.99828767123331752110126053-110126055
187ALG9110.956427015251801836111742106-111742130, 111742136-111742145, 111742147-111742178, 111742187-111742199
188DLAT110.99948559670811944111909982
189APOA1110.97388059701521804116706732-116706739, 116706791, 116706795-116706806
190SCN4B110.9985443959241687118023355
191HMBS110.99723756906131086118962228-118962230
192DPAGT1110.984515077425191227118972308, 118972312, 118972320-118972336
193ROBO3110.9670752223021374161124735478-124735481, 124738863-124738908, 124738920-124738945, 124745976-124745980, 124746177-124746181, 124746187-124746193, 124746251-124746252, 124746265-124746269, 124746291, 124746298-124746302, 124746306-124746308, 124746313-124746314, 124748613, 124750422-124750446
194WNK1120.99923371647511305978105
195WNK1120.9569170513363087149862732-862751, 862787-862789, 862796-862822, 862844-862877, 862883-862905, 862922-862950, 863119-863177, 863189-863211, 863241-863279, 863291-863299, 994156, 994348-994358, 994411-994417, 994793, 994801-994814, 1017031-1017034, 1017087-1017090
196CACNA2D4120.983596953725634141902905, 1906624-1906652, 1909566, 1994187-1994193, 2027522-2027539
197CACNA1C120.994360615763765612787013-2787015, 2788728, 2797712-2797720, 2797843-2797848, 2797889-2797896, 2800350-2800359
198VWF120.98199478796515284426058303-6058309, 6125328-6125344, 6131926-6131932, 6131970-6131982, 6132003-6132033, 6166111-6166140, 6166165-6166181, 6166219-6166238, 6172172-6172177, 6172185, 6172190-6172192
199TNFRSF1A120.942982456147813686438485-6438524, 6438602-6438616, 6438767-6438788, 6439060
200SCNN1A120.9702789208966521876457373, 6457392-6457396, 6457407, 6472616-6472622, 6472688-6472710, 6472721-6472725, 6472750-6472772
201TPI1120.945333333333417506976731-6976746, 6976787-6976789, 6976814-6976835
202ATN1120.92387349566227235737045900-7045933, 7046096-7046097, 7046102-7046107, 7046219-7046222, 7046327-7046329, 7046332-7046333, 7046340-7046345, 7046356-7046364, 7046371-7046388, 7046393-7046399, 7046405-7046441, 7046506-7046509, 7046519-7046533, 7046552-7046562, 7046577-7046642, 7046672-7046684, 7046716-7046724, 7050585, 7050615-7050639
203PEX5120.995780590717818967343034-7343040, 7361234
204AICDA120.98659966499285978756880-8756887
205CDKN1B120.998324958124159712871075
206GYS2120.9976325757585211221712086-21712089, 21712092
207ABCC9120.999354838713465021981904, 21998622, 22063817
208KRAS120.994736842105357025368402-25368404
209DNM1L120.99185888738118221132832342-32832347, 32832388-32832399
210PKP2120.97096260938773251433049567-33049590, 33049602-33049606, 33049610-33049613, 33049626-33049665
211KIF21A120.9989971921385498639726796, 39760289-39760292
212LRRK2120.99841772151912758440687387, 40753214-40753221, 40761494-40761496
213VDR120.96962616822439128448238706-48238710, 48238719, 48251357-48251389
214COL2A1120.972670250896122446448369786, 48373315-48373327, 48376329-48376366, 48377497-48377519, 48377872-48377876, 48380224, 48398052-48398092
215MLL2120.9550379198277471661449420426-49420432, 49420438, 49420442-49420443, 49420601-49420618, 49420944, 49422934, 49422937, 49424147, 49424465-49424478, 49425062-49425065, 49425137-49425138, 49425421, 49425426, 49426052, 49426508, 49426511, 49426515-49426517, 49426616-49426626, 49426688-49426689, 49426733-49426734, 49426746-49426753, 49426767-49426805, 49426833-49426839, 49426864-49426868, 49426880-49426886, 49426902-49426949, 49426956-49427005, 49427012-49427103, 49427130-49427151, 49427153-49427178, 49427187-49427192, 49427236-49427295, 49427307-49427350, 49427563-49427566, 49427617-49427685, 49430936-49430939, 49431295-49431347, 49431359-49431362, 49431592-49431593, 49431685-49431688, 49431746-49431758, 49431767-49431768, 49431802-49431805, 49431824-49431830, 49431842, 49431849-49431859, 49431869-49431873, 49431887-49431891, 49431895, 49432583-49432585, 49433765-49433766, 49434051-49434082, 49434166-49434168, 49434515-49434522, 49434528-49434530, 49434572, 49434922-49434928, 49435443, 49438290, 49438296-49438302, 49444509
216DHH120.822837951301211119149483646-49483685, 49483696-49483725, 49483736-49483773, 49483836-49483864, 49483876-49483880, 49483898-49483908, 49483953-49484000, 49484128-49484130, 49484221, 49484963, 49484966, 49488116-49488119
217TUBA1A120.984649122807745649522308-49522314
218AQP2120.990196078431881650349356-50349363
219ACVRL1120.9966931216935151252307386-52307387, 52312883-52312884, 52312890
220KRT81120.95520421607468151852680207-52680226, 52684021-52684029, 52685061-52685065, 52685164-52685196, 52685213
221KRT86120.96851471594846146152695735-52695743, 52695763-52695776, 52695783-52695785, 52695880-52695882, 52696925-52696934, 52699545-52699551
222KRT83120.98043184885329148252714920-52714925, 52715018-52715040
223KRT6B120.95280235988280169552840976, 52841179, 52841338-52841344, 52841659-52841665, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845668, 52845713-52845719, 52845797-52845829
224KRT6C120.930973451327117169552865915-52865928, 52866021-52866041, 52866052-52866054, 52867101-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867345, 52867457-52867488
225KRT6A120.98289085545729169552881702, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886778
226KRT5120.943598420756100177352908771-52908780, 52908792-52908795, 52908806-52908854, 52908866-52908882, 52908915-52908927, 52908936, 52908942-52908947
227KRT2120.9979166666674192053045840-53045843
228KRT1120.9963824289417193553070152-53070155, 53070159-53070160, 53070175
229KRT4120.99271708683513178553201525-53201532, 53201542-53201545, 53201554
230ITGA7120.99503794512617342656081779-56081783, 56086700-56086703, 56088567-56088573, 56090125
231RDH5120.9791013584122095756115157-56115160, 56115585-56115593, 56115600-56115605, 56117719
232KIF5A120.98031623104261309957944057-57944106, 57944160-57944170
233CYP27B1120.9941060903739152758159806-58159807, 58159811, 58159889-58159894
234TSFM120.9672801635993297858176598-58176629
235GNS120.97468354430442165965141666-65141672, 65141676, 65152904-65152928, 65152935-65152938, 65152963, 65153019-65153022
236LEMD3120.947733918129143273665563388-65563391, 65563611-65563641, 65563739-65563763, 65563787-65563814, 65563838-65563844, 65563857-65563904
237BBS10120.9995395948431217276742057
238CEP290120.99045698924771744088472947-88472961, 88472975-88472985, 88472996-88472997, 88505475-88505477, 88505602-88505604, 88519023-88519024, 88519065-88519066, 88519134-88519140, 88519144-88519146, 88522783-88522804, 88532968
239HAL120.98733535967625197496379695, 96389648-96389671
240TMPO120.96258992805878208598909793-98909831, 98909851-98909854, 98909882-98909916
241SLC17A8120.993220338983121770100774562-100774566, 100774579-100774585
242GNPTAB120.996022275259153771102224337-102224351
243IGF1120.9982993197281588102874144
244UNG120.97027600849328942109535485-109535500, 109535545-109535548, 109535554-109535561
245MMAB120.97875166002716753109998854-109998862, 110011229-110011235
246MVK120.9966414777541191110034235, 110034238-110034240
247TRPV4120.99655963302892616110230596, 110236711-110236717, 110238442
248ATP2A2120.981783317354573129110719605, 110719608-110719611, 110719617-110719624, 110719633-110719656, 110719662-110719675, 110778526-110778531
249MYL2120.9980039920161501111348888
250ATXN2120.8242009132426933942111895064-111895069, 111908484, 112036588-112037272, 112037318
251PTPN11120.99214365881141782112856916-112856929
252TBX5120.99486191393781557114793792, 114793797-114793801, 114841682-114841683
253TBX3120.9166666666671862232115110043-115110047, 115111976-115112080, 115112102-115112107, 115112118-115112124, 115112195-115112228, 115112245, 115112257, 115112267-115112271, 115112326-115112329, 115112395-115112398, 115112401, 115112405-115112408, 115120850-115120858
254ACADS120.99838579499621239121175788, 121176676
255HNF1A120.972573839662521896121416591-121416592, 121416633, 121416699, 121434185-121434188, 121434349-121434373, 121435344, 121435358-121435361, 121435365-121435371, 121437409-121437415
256EIF2B1120.9989106753811918124111036
257ATP6V0A2120.99766627771362571124197128-124197129, 124197149-124197150, 124242474-124242475
258PUS1120.8948598130841351284132414268-132414300, 132414306-132414319, 132414334-132414341, 132414452-132414481, 132414495-132414533, 132414617-132414621, 132425975-132425979, 132426089
259SACS130.9890829694321501374023908084, 23949260-23949408
260PDX1130.77816901408518985228494287-28494321, 28494407, 28494414-28494416, 28494440-28494444, 28494511-28494514, 28494568-28494580, 28494587-28494590, 28494658-28494661, 28498393-28498397, 28498404-28498417, 28498425-28498426, 28498431, 28498644-28498652, 28498672-28498718, 28498755-28498794, 28498814-28498815
261B3GALTL130.95323981295970149731774222-31774291
262BRCA2130.996100224237401025732903629, 32929387-32929425
263SPG20130.9985007496253200136909449, 36909452, 36909457
264FREM2130.98958990536399951039261564-39261592, 39261613, 39261681, 39261688, 39261707-39261711, 39261715, 39261793, 39261797-39261804, 39261836-39261842, 39261848-39261850, 39261911-39261935, 39261949-39261958, 39262062, 39450257, 39450266, 39450270-39450273
265TNFSF11130.9811320754721895443148452-43148456, 43148492-43148503, 43148508
266SUCLA2130.9935344827599139248528398-48528401, 48575343-48575347
267RB1130.96698959454692278748878082-48878088, 48878102-48878138, 48878147-48878182, 49030402, 49051515-49051525
268RNASEH2B130.9893503727371093951484213-51484222
269ATP7B130.997953615289439852508956, 52508964-52508969, 52518251-52518252
270CLN5130.99019607843112122477566336, 77566339, 77566348-77566350, 77566358-77566364
271EDNRB130.9992475545521132978475263
272SLITRK1130.98852223816424209184453780-84453802, 84454039
273ZIC2130.4140087554729371599100634319-100634801, 100634825, 100634831-100634833, 100634862-100634902, 100634921-100634945, 100635001-100635040, 100635052-100635098, 100637324-100637328, 100637577-100637582, 100637587, 100637622-100637666, 100637672-100637911
274PCCA130.984910836763332187100741439-100741471
275ERCC5130.99976409530514239103519038
276COL4A1130.984630738523775010110804842-110804843, 110814611-110814612, 110814718, 110821993-110821994, 110864259-110864269, 110959316-110959374
277F7130.948314606742691335113765022-113765025, 113765038-113765061, 113765068-113765092, 113765130-113765133, 113770027, 113770031-113770033, 113772961-113772967, 113772971
278F10130.965916837082501467113777175-113777224
279GRK1130.976359338061401692114321945, 114322121-114322122, 114322134-114322141, 114325884-114325885, 114325888, 114325947, 114325951-114325954, 114325960-114325970, 114426074-114426081, 114426088-114426089
280TEP1140.99099441907771788420841508-20841531, 20850445-20850486, 20851418-20851419, 20851436, 20851783, 20853249
281RPGRIP1140.9997409997411386121793021
282SLC7A7140.99088541666714153623282109-23282122
283PABPN1140.61889250814335192123790679-23791029
284MYH6140.9993127147774582023855263, 23858147, 23863444-23863445
285MYH7140.99466253443531580823887511-23887515, 23894050-23894052, 23894057-23894067, 23894071, 23894223-23894233
286NRL140.68067226890822871424550454-24550471, 24550536-24550724, 24550750-24550758, 24550763-24550774
287PCK2140.9989599583982192324563641, 24568259
288TINF2140.9955752212396135624711497-24711502
289FOXG1140.665986394558491147029236486-29236969, 29237060, 29237156, 29237164-29237167, 29237202
290COCH140.9993950393221165331355496
291CFL2140.994011976048350135183744-35183746
292NKX2-1140.641791044776432120636986510-36986518, 36986524, 36986529, 36986564-36986611, 36986622-36986630, 36986652-36986678, 36986690-36986905, 36986919-36986930, 36986944-36986945, 36987031-36987037, 36987073-36987081, 36987104-36987124, 36988360-36988399, 36989280, 36989287-36989294, 36989300, 36989306-36989325
293PAX9140.9990253411311102637135749
294FANCM140.99788514722613614745605373-45605377, 45623992, 45624000, 45654427, 45654449-45654453
295MGAT2140.98958333333314134450088119-50088127, 50088132, 50088143-50088146
296C14orf104140.760143198091603251450100595-50100607, 50100644, 50100712-50100759, 50100768-50100814, 50100821-50100824, 50100830-50100834, 50100854-50100887, 50100913-50100919, 50100929-50101020, 50101034-50101037, 50101044-50101064, 50101081-50101129, 50101136-50101172, 50101179-50101183, 50101213-50101262, 50101344-50101372, 50101378-50101380, 50101388-50101419, 50101453-50101467, 50101526-50101588, 50101676, 50101795-50101837
297L2HGDH140.9942528735638139250778813-50778820
298PYGL140.98545597484337254451410939-51410958, 51411105-51411121
299GCH1140.77025232403717375355326399-55326403, 55326417, 55326420, 55369085-55369090, 55369096-55369102, 55369127-55369137, 55369207-55369300, 55369334-55369381
300SIX6140.9419703103914374160976243-60976249, 60976376, 60977828-60977862
301SIX1140.9719298245612485561115428-61115431, 61115437-61115438, 61115442, 61115448, 61115451, 61115503-61115507, 61115565, 61115574, 61115583, 61115591-61115597
302SYNE2140.998359390079342072464457771-64457777, 64483273-64483274, 64522809, 64669605-64669606, 64676759, 64692109-64692129
303ZFYVE26140.9934383202150762068215249-68215252, 68229069-68229074, 68233097, 68242687-68242688, 68244316, 68274116-68274127, 68274210-68274229, 68274239-68274241, 68274378
304VSX2140.95488029465949108674706420-74706432, 74706451-74706475, 74706506, 74706513-74706514, 74706601-74706608
305EIF2B2140.98674242424214105675471590-75471603
306MLH3140.99266391563532436275506687-75506718
307FLVCR2140.9968374446555158176045382, 76045510-76045512, 76045570
308TGFB3140.9967715899924123976447019-76447022
309ESRRB140.95743287491865152776964641, 76964668-76964672, 76964683-76964731, 76964786-76964795
310POMT2140.941411451398132225377786862-77786900, 77786906-77786991, 77787009-77787015
311GALC140.94120505345121205888459314-88459358, 88459384-88459399, 88459404-88459411, 88459421-88459457, 88459463-88459477
312SPATA7140.9972222222225180088899530, 88899547-88899550
313TTC8140.9954780361767154889343667-89343673
314ATXN3140.95672191528547108692537348-92537394
315VRK1140.9941225860627119197304111-97304114, 97304152-97304153, 97322488
316AMN140.5513950073426111362103390139-103390166, 103395159-103395187, 103395198-103395218, 103395260-103395265, 103395494-103395539, 103395590-103395595, 103395765-103395825, 103396008-103396021, 103396055-103396074, 103396317-103396328, 103396372-103396395, 103396403-103396411, 103396416-103396423, 103396502-103396664, 103396755-103396827, 103396913-103396959, 103396967-103397010
317INF2140.8445333333335833750105167729-105167732, 105167880-105167887, 105167892-105167911, 105167931-105167962, 105168006-105168022, 105168027, 105169760-105169764, 105170256-105170257, 105170263, 105170282-105170283, 105172446-105172449, 105173289, 105173295, 105173301, 105173305, 105173310, 105173619-105173648, 105173657-105173664, 105173713-105173793, 105173802-105173808, 105173856-105174187, 105174892-105174897, 105177497-105177512, 105177517, 105179818
318NIPA1150.82020202020217899023086234-23086411
319SNRPN150.994467496542472325222089-25222091, 25222964
320OCA2150.99562971791811251728263571-28263577, 28326942-28326945
321TRPM1150.99709060681614481231320562-31320565, 31332375-31332381, 31353662-31353664
322IVD150.9937548790018128140710451-40710458
323CHST14150.794871794872232113140763413-40763545, 40763559-40763591, 40763643-40763648, 40763670-40763671, 40763675-40763678, 40763693-40763703, 40763779-40763821
324CAPN3150.98733660130731244842652004-42652034
325CDAN1150.861292073833511368443019898-43019903, 43019926-43019948, 43021006, 43021780-43021784, 43022911, 43026483-43026505, 43028523-43028546, 43028558-43028595, 43028606-43028614, 43028683-43028704, 43028710-43028978, 43029211-43029300
326STRC150.968280780781169532843896259-43896261, 43896303-43896312, 43900150-43900156, 43902605, 43902611-43902614, 43903726-43903727, 43905031-43905037, 43905045, 43905052-43905059, 43907736-43907751, 43907802-43907803, 43907807-43907810, 43907874-43907880, 43908044-43908051, 43908070-43908086, 43908093-43908101, 43908186-43908190, 43908275-43908288, 43910188-43910194, 43910436-43910444, 43910866-43910893
327STRC150.996649916248259744003188-44003189
328STRC150.95282051282192195044007198-44007213, 44007264-44007265, 44007269-44007272, 44007336-44007342, 44007506-44007513, 44007532-44007548, 44007555-44007563, 44007648-44007652, 44007737-44007750, 44009589-44009590, 44009601, 44009650-44009656
329SPG11150.9991816693946733244955721-44955726
330DUOX2150.975037658705116464745398401-45398403, 45398455-45398458, 45401078-45401081, 45401087-45401088, 45403591-45403604, 45403612-45403629, 45403635, 45403644-45403688, 45403760-45403783, 45404009
331GATM150.96226415094348127245670604-45670651
332FBN1150.99744661095622861648737585, 48737590-48737597, 48826316-48826319, 48936958-48936966
333CEP152150.9997985901311496549036499
334SCG3150.9992892679461140751975288
335TPM1150.990643274854885563335063, 63336019, 63336023-63336028
336PPIB150.8817204301087765164455091-64455113, 64455123-64455163, 64455173-64455185
337CLN6150.9241452991457193668506711-68506712, 68521840-68521841, 68521856-68521922
338NR2E3150.97554347826127110472103901-72103903, 72103908, 72103917-72103933, 72105814, 72105861-72105865
339HEXA150.9955974842777159072668267-72668271, 72668277, 72668288
340HCN4150.7054263565891064361273614851-73614906, 73614928, 73615004-73615027, 73615069-73615072, 73615113-73615167, 73615189-73615231, 73615421-73615440, 73615465-73615471, 73615479-73615520, 73615574-73615649, 73615740, 73615755-73615768, 73615924-73615926, 73615929-73615930, 73615984-73616001, 73616032-73616056, 73616069, 73616073-73616086, 73616094, 73616103-73616107, 73616130-73616183, 73616204-73616207, 73616441-73616451, 73616555-73616556, 73616564-73616594, 73624536, 73660038, 73660048, 73660056-73660060, 73660070-73660611
341PSTPIP1150.9944044764197125177320958-77320964
342RPS17150.987745098039540882823348, 82824441, 82824444-82824445, 82824458
343RPS17150.987745098039540883207691, 83208784, 83208787-83208788, 83208801
344POLG150.97661290322687372089864030, 89876791-89876813, 89876826-89876827, 89876835-89876869, 89876912-89876920, 89876930-89876933, 89876938-89876941, 89876952-89876960
345MESP2150.876046901173148119490319723-90319746, 90319773-90319778, 90320021-90320064, 90320080-90320125, 90320131-90320146, 90320150-90320161
346BLM150.99647390691115425491303489, 91303496, 91303501, 91303505, 91312738-91312744, 91328191-91328193, 91337432
347VPS33B150.99460625674210185491565384-91565393
348IGF1R150.98075048732979410499192821-99192826, 99192847-99192904, 99250827, 99250830, 99250833, 99250842, 99251234-99251236, 99251282-99251283, 99473504, 99473515-99473517, 99473522-99473523
349HBZ160.487179487179220429203891-204011, 204020-204044, 204051-204079, 204087-204095, 204271-204291, 204300-204302, 204325-204335, 204340
350HBM160.706572769953125426216309-216315, 216321-216362, 216376-216383, 216393-216458, 216609-216610
351HBA2160.692307692308132429222918-222955, 222966-223006, 223215-223240, 223285-223311
352GNPTG160.917211328976769181401967-1402000, 1402103-1402106, 1402240-1402277
353CLCN7160.91232423490521224181497424-1497426, 1497528-1497540, 1500498-1500534, 1500610-1500616, 1503879-1503881, 1506170, 1509120-1509126, 1524835-1524975
354IGFALS160.92443064182214619321840613-1840651, 1840951-1840993, 1841029, 1841102-1841103, 1841232-1841238, 1841293-1841296, 1841538, 1841554, 1841788-1841824, 1842084-1842086, 1842186, 1842296-1842302
355GFER160.5825242718452586182034220-2034477
356TSC2160.9806415929210554242103387-2103422, 2104382-2104386, 2104391, 2104394, 2106757, 2108756-2108757, 2121527-2121528, 2121845, 2121856-2121866, 2124272, 2124276, 2126563-2126566, 2133696-2133699, 2136317-2136322, 2136329-2136347, 2136356-2136364, 2136869
357PKD1160.8224132589842293129122139818-2139819, 2139824-2139827, 2139875-2139913, 2140675-2140699, 2140708-2140718, 2140766-2140802, 2140912-2140976, 2140982-2141050, 2141063-2141128, 2141138-2141175, 2141424-2141568, 2141824-2141835, 2141842-2141853, 2143978, 2147149, 2147153, 2147159-2147160, 2147199, 2147396-2147399, 2147411-2147417, 2147940-2147975, 2149915-2149922, 2149961-2149968, 2150043-2150072, 2150190-2150206, 2150284, 2153289-2153299, 2153592-2153639, 2153652-2153658, 2153664-2153747, 2153755-2153780, 2153812-2153816, 2153854, 2153864-2153874, 2154542-2154643, 2155323-2155346, 2155366, 2155943-2155952, 2156169-2156181, 2156249-2156258, 2156442-2156462, 2156520-2156526, 2156660-2156673, 2156816-2156836, 2156901-2156907, 2158575-2158581, 2158630-2158644, 2158698-2158704, 2158901, 2158913, 2158932, 2158941, 2158971-2158977, 2159067-2159115, 2159166, 2159169, 2159172, 2159256-2159296, 2159340-2159347, 2159398-2159434, 2159449-2159488, 2159608-2159653, 2159759-2159761, 2160494, 2160718-2160726, 2160884, 2160980-2160981, 2161303-2161328, 2161732-2161747, 2161804-2161805, 2162935, 2162953, 2162959, 2162962, 2164429-2164435, 2164519-2164529, 2164563-2164569, 2164681-2164682, 2164698, 2164703-2164708, 2164713-2164714, 2164755-2164761, 2164803-2164812, 2164878-2164884, 2165388-2165394, 2165564-2165567, 2165993-2166007, 2166044-2166045, 2166098, 2166858-2166874, 2166897-2166917, 2166946-2166970, 2166991-2166995, 2167654-2167673, 2167818-2167822, 2167851-2167890, 2167902-2167906, 2167924-2168038, 2168046-2168072, 2168103-2168147, 2168157-2168243, 2168292-2168294, 2168306-2168429, 2168439-2168463, 2168727-2168751, 2168791-2168797, 2185476-2185690
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482GAA170.97306750612177285978078522-78078524, 78078564-78078597, 78078705-78078713, 78082206-78082208, 78082595-78082598, 78086377-78086400
483SGSH170.9324055666102150978190836-78190861, 78190959-78190991, 78194051-78194058, 78194078-78194112
484ACTG1170.98758865248214112879477758-79477760, 79479002-79479012
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488AFG3L2180.957393483709102239412376980-12377081
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491DSC3180.98439241917542269128574310-28574311, 28622587-28622626
492DSC2180.99076127124925270628681866-28681877, 28681897-28681909
493DSG2180.98748882931242335729078215-29078256
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495MYO5B180.99332972778137554747352977, 47380001, 47390527-47390535, 47402158, 47421311, 47421459, 47429129-47429133, 47721137-47721153, 47721163
496SMAD4180.98975286317117165948584608, 48603045-48603047, 48603057, 48603061, 48603066-48603076
497FECH180.95813953488454129055238709, 55253786-55253794, 55253809-55253852
498ATP8B1180.99227902023429375655315871-55315882, 55328523-55328527, 55334395-55334397, 55364856, 55364860-55364867
499RAX180.698366954851314104156936262-56936265, 56936284-56936311, 56936324-56936346, 56936354-56936417, 56936437-56936565, 56936586-56936622, 56940259-56940287
500LMAN1180.9954337899547153357000473, 57013281-57013283, 57026359-57026361
501CCBE1180.93611793611878122157134045, 57134050-57134058, 57364493-57364531, 57364546-57364574
502TNFRSF11A180.923824959481141185159992586-59992660, 60021752-60021761, 60051997-60052003, 60052076-60052101, 60052200, 60052203, 60052212-60052232
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504ELANE190.773631840796182804852876-852915, 853262-853403
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506STK11190.9846390168972013021219367, 1219374, 1219380-1219384, 1219409-1219410, 1221317-1221321, 1221324, 1226642-1226646
507NDUFS7190.99221183800656421387844-1387846, 1388584, 1393254
508GAMT190.8543209876541188101398837-1398843, 1399792-1399793, 1399808, 1399892-1399905, 1401308-1401327, 1401390-1401429, 1401437-1401470
509RAX2190.6954954954951695553770619-3770626, 3770632-3770712, 3770718-3770778, 3770921-3770924, 3770928-3770930, 3770935-3770946
510MAP2K2190.91687448046610012034099211-4099218, 4123781-4123872
511NDUFA11190.910798122066384265896464-5896477, 5896480-5896496, 5896514, 5896998-5897003
512TUBB4190.9295880149819413356495567-6495613, 6495622-6495638, 6495645-6495672, 6502219, 6502222
513C3190.96033653846219849926693455-6693461, 6693466, 6693472-6693473, 6693481, 6693486-6693489, 6707087-6707134, 6707148-6707161, 6707167-6707171, 6707192-6707247, 6707255-6707260, 6707264-6707267, 6707284, 6707520, 6707815, 6707829, 6713440-6713453, 6713514-6713520, 6714003-6714006, 6714177-6714197
514INSR190.97372860930310941497126629-7126636, 7184448-7184454, 7184491-7184494, 7184501, 7184529-7184530, 7184538-7184547, 7293813-7293847, 7293861-7293902
515MCOLN1190.9558232931737717437587651-7587660, 7592439-7592441, 7593999-7594019, 7594512-7594533, 7598492-7598512
516PNPLA6190.95657630522117339847600866, 7600895-7600899, 7604833-7604834, 7605097, 7605100, 7615899-7615937, 7615944-7615953, 7616248-7616266, 7616297-7616301, 7619506-7619538, 7619909-7619910, 7619915, 7619921-7619925, 7620230-7620248, 7621546-7621572, 7621609-7621610, 7622065
517STXBP2190.91582491582515017827702038-7702064, 7702070-7702072, 7706650-7706655, 7706715-7706739, 7706920-7706924, 7706945-7706954, 7706960, 7706968, 7706972-7706976, 7707099-7707130, 7707338, 7707347-7707351, 7707911-7707934, 7708077, 7709582, 7711156-7711158
518ADAMTS10190.9501811594216533128649811-8649817, 8649864-8649866, 8649898-8649931, 8650026-8650058, 8650112-8650114, 8650353-8650362, 8650395, 8650410-8650412, 8650424-8650429, 8650466-8650468, 8650494-8650497, 8650501-8650502, 8650507-8650510, 8650514-8650516, 8654236-8654239, 8654244-8654249, 8654393-8654396, 8654436-8654439, 8669926-8669948, 8670075-8670076, 8670081-8670086
519TYK2190.957070707071153356410463137-10463172, 10463613-10463635, 10463649-10463683, 10463699-10463700, 10464233, 10464238-10464250, 10464255-10464260, 10465273-10465274, 10475649-10475655, 10476365-10476386, 10476472-10476477
520DNM2190.922311519326203261310828919-10829079, 10939790-10939792, 10939798-10939810, 10939824-10939826, 10939830-10939835, 10940911-10940921, 10940941, 10940950, 10940954-10940957
521LDLR190.99728997297258311200273-11200279
522PRKCSH190.98487712665424158711558254-11558255, 11558307, 11558343-11558363
523MAN2B1190.908432147563278303612758080-12758088, 12758093-12758103, 12758107, 12758360-12758404, 12759007-12759038, 12759061-12759095, 12759116-12759147, 12766576, 12767763-12767779, 12767785-12767787, 12767807-12767812, 12767854-12767862, 12767868, 12768275-12768318, 12768360-12768369, 12776614-12776619, 12777422-12777423, 12777450-12777462, 12777466
524GCDH190.98936977980314131713002119, 13002126-13002128, 13002135-13002139, 13002150-13002154
525CACNA1A190.8206355537831349752113318127-13318130, 13318156-13318198, 13318238-13318867, 13319598-13319647, 13319690-13319726, 13320155-13320192, 13409382-13409386, 13409426-13409427, 13409458-13409674, 13409729-13409764, 13409800-13409824, 13616746-13616755, 13616775-13616848, 13616854-13617031
526NOTCH3190.88931955211771696615271511-15271522, 15271752, 15271864-15271895, 15272094-15272102, 15272112-15272116, 15272125, 15272216-15272251, 15272461-15272496, 15272511-15272518, 15276754-15276756, 15276771-15276774, 15281172-15281202, 15281217-15281238, 15281298-15281363, 15281482-15281495, 15281523-15281526, 15281530, 15281537-15281553, 15281588-15281606, 15281613-15281635, 15284984, 15284987, 15284990, 15285090-15285092, 15288377, 15288381, 15288386, 15288538-15288542, 15288571-15288770, 15288779-15288831, 15288852, 15288854-15288858, 15288864-15288871, 15288878-15288890, 15288901, 15290994, 15291924-15291930, 15292434-15292440, 15296119-15296124, 15296128, 15296134-15296141, 15311615-15311716
527CYP4F22190.98997493734316159615636311-15636317, 15662270-15662278
528JAK3190.883259259259394337517940917-17940966, 17940974-17940993, 17941326-17941380, 17941395-17941401, 17941411-17941429, 17942185-17942209, 17942563-17942566, 17945477-17945482, 17945488-17945507, 17949083-17949086, 17949096-17949097, 17949103, 17949110-17949114, 17950366-17950372, 17953158-17953195, 17953231-17953279, 17953287-17953343, 17953401, 17953858-17953881
529SLC5A5190.97256728778553193217984947-17984948, 17984960-17984981, 17985011-17985012, 17994687, 17994689-17994700, 17994711-17994723, 17999212
530IL12RB1190.9964806435397198918177486-18177489, 18197631-18197633
531COMP190.773526824978515227418896491-18896544, 18896569-18896575, 18896583-18896591, 18896831, 18896834-18896835, 18898378-18898389, 18898420-18898444, 18899091-18899095, 18899102-18899113, 18899226-18899233, 18899239, 18899247-18899287, 18899294-18899309, 18899404-18899444, 18899456-18899512, 18899559, 18899969-18899990, 18900017-18900023, 18900037, 18900041-18900045, 18900096-18900106, 18900751-18900783, 18900795-18900893, 18900899-18900923, 18901666-18901672, 18901677-18901682, 18901702-18901708
532CEBPA190.19591457753866107733792244-33792253, 33792451-33792488, 33792498-33792565, 33792571-33793320
533SCN1B190.9504337050814080735521725-35521764
534MAG190.95800106326479188135790617, 35790634, 35790644-35790649, 35790729-35790735, 35790738, 35791061-35791109, 35791131-35791144
535PRODH2190.94723774053485161136297667, 36297722-36297726, 36297946, 36303086-36303108, 36303281-36303328, 36303334-36303340
536NPHS1190.968062265164119372636336326-36336329, 36336593-36336604, 36336623-36336629, 36336644-36336665, 36336687-36336700, 36336928-36336933, 36337044, 36337054-36337069, 36337090-36337092, 36339577-36339610
537SDHAF1190.60344827586213834836486177-36486186, 36486193-36486204, 36486227-36486262, 36486300, 36486304-36486307, 36486341-36486361, 36486369-36486421, 36486504
538WDR62190.98490813648369457236545880-36545885, 36546010-36546013, 36546024, 36549749-36549755, 36558288-36558294, 36595857-36595900
539RYR1190.9415889396048831511738931385, 38931484-38931488, 38943499-38943505, 38954160-38954167, 38954486, 38956913-38956916, 38964327-38964336, 38976260, 38976288-38976328, 38976339-38976380, 38976630-38976638, 38976646-38976683, 38976692-38976715, 38976766, 38976769-38976771, 38987503-38987518, 38990359, 38993147, 38993151, 38993156-38993169, 38993177-38993181, 38993239-38993244, 38994909-38994910, 38997486, 38998413-38998420, 38998425-38998432, 39008204-39008214, 39018365, 39019617-39019619, 39037085-39037091, 39037098-39037121, 39037137-39037163, 39055600-39055606, 39055707-39055718, 39055732-39056182, 39056201-39056223, 39056275-39056277, 39056286-39056319, 39056358-39056360, 39062706-39062709, 39062772-39062773, 39062778-39062784, 39068841, 39075665-39075669
540ACTN4190.93567251462176273639138411-39138417, 39138425-39138433, 39138441-39138446, 39138452-39138461, 39138474-39138517, 39138537-39138547, 39200971-39200982, 39214637-39214643, 39214822-39214827, 39214846-39214869, 39216455-39216487, 39218596-39218602
541DLL3190.757673667205450185739990004, 39993455-39993457, 39993463-39993473, 39993500-39993667, 39997768-39997781, 39997798-39997919, 39997946-39997951, 39997998-39998052, 39998078-39998085, 39998089, 39998097-39998098, 39998106-39998140, 39998189-39998196, 39998207-39998221, 39998255
542PRX190.965344277246152438640900734, 40900862, 40901306, 40901310-40901312, 40903400, 40903406-40903408, 40903415, 40903423-40903431, 40904527-40904528, 40909635-40909676, 40909682-40909769
543TGFB1190.829497016198200117341836999-41837001, 41837010-41837095, 41838046-41838047, 41848105-41848111, 41854236-41854246, 41854249-41854256, 41854261-41854262, 41854303, 41858864-41858904, 41858911-41858949
544BCKDHA190.97683109118131133841903750-41903761, 41916837-41916839, 41929058, 41929063-41929072, 41930353-41930357
545ATP1A3190.927406199021267367842470782-42470788, 42470963-42470977, 42470995-42471010, 42471016-42471023, 42471041-42471062, 42471086-42471113, 42471182-42471186, 42471308-42471372, 42480568-42480600, 42480646-42480670, 42480676-42480718
546ETHE1190.9581699346413276544011005, 44011008, 44012212, 44031259-44031283, 44031294-44031296, 44031321
547BCAM190.898251192369192188745312383-45312452, 45314499-45314507, 45322123-45322125, 45322956-45322959, 45323962-45324019, 45324038-45324079, 45324173-45324178
548APOE190.61006289308237295445411861-45411899, 45411908-45411954, 45411963-45412021, 45412034-45412038, 45412065-45412066, 45412092-45412140, 45412151-45412190, 45412204-45412262, 45412373-45412378, 45412413-45412442, 45412456-45412491
549BLOC1S3190.42364532019735160945682578-45682602, 45682623-45682629, 45682688-45682711, 45682744-45682788, 45682827-45682871, 45682881-45682959, 45682987, 45683006-45683130
550ERCC2190.96627244853377228345856401, 45867002-45867012, 45867023-45867044, 45867145-45867151, 45867255-45867264, 45867292-45867316, 45867322
551OPA3190.9705340699821654346032426-46032440, 46032628
552SIX5190.707207207207650222046268977-46268987, 46269094, 46269100-46269101, 46269105-46269108, 46269680-46269682, 46269760-46269766, 46269876-46269879, 46270149-46270171, 46270195-46270200, 46271310-46271339, 46271375-46271410, 46271438-46271475, 46271495-46271500, 46271538-46271612, 46271642, 46271646-46271655, 46271660-46271668, 46271676-46271689, 46271694-46271700, 46271714, 46271719-46271726, 46271749-46272102
553DMPK190.893650793651201189046273768-46273795, 46274253-46274282, 46278242, 46281386-46281393, 46281764-46281766, 46285451-46285463, 46285493-46285610
554FKRP190.571908602151637148847258814-47258822, 47258830-47258834, 47258836-47258837, 47258864, 47258945-47258993, 47259018-47259022, 47259037-47259041, 47259049-47259053, 47259068-47259070, 47259118-47259126, 47259141-47259280, 47259294-47259300, 47259311-47259470, 47259480-47259481, 47259484-47259536, 47259586-47259590, 47259613-47259685, 47259703-47259768, 47259785-47259794, 47259830-47259832, 47259916-47259917, 47260049-47260055, 47260081-47260093, 47260097, 47260105, 47260136
555CRX190.9777777777782090048342621, 48342633-48342638, 48342647-48342659
556DBP190.62474437627836797849138837-49139030, 49139036-49139082, 49139088-49139118, 49139127-49139164, 49139229-49139232, 49139241-49139247, 49140176-49140181, 49140186-49140189, 49140196-49140231
557FTL190.998106060606152849469087
558GYS1190.995934959359221449473869-49473877
559MED25190.934937611408146224450321620-50321654, 50321665-50321666, 50321845-50321854, 50333087-50333090, 50333455-50333460, 50333768-50333782, 50333792-50333799, 50333805-50333807, 50334072-50334081, 50334116-50334144, 50335402-50335414, 50338434, 50339550-50339559
560PNKP190.934227330779103156650364615-50364619, 50365135-50365137, 50365328-50365330, 50365480-50365504, 50365534-50365538, 50365628-50365629, 50365795-50365798, 50365818-50365824, 50365835-50365865, 50365984-50365989, 50370409-50370417, 50370429-50370431
561MYH14190.979054164621128611150713633-50713661, 50713715-50713718, 50713832, 50713988, 50714005-50714015, 50727416-50727418, 50747545-50747549, 50762401-50762404, 50762411, 50762414-50762422, 50770142-50770166, 50770181-50770184, 50770211-50770220, 50780085-50780088, 50780141, 50784934-50784936, 50785056, 50789907-50789911, 50812949-50812955
562KCNC3190.4920844327181155227450823503-50823606, 50826270, 50826294, 50826298, 50826344-50826357, 50826365-50826367, 50826397-50826429, 50826436-50826479, 50826523-50826529, 50826542-50826575, 50826625-50826656, 50826765, 50826781, 50826789, 50826798, 50826903-50826909, 50831470-50832339
563KLK4190.9581699346413276551411944, 51411949-51411955, 51412602-51412615, 51412620-51412624, 51412653, 51412667-51412670
564ETFB190.95773294908744104151856432-51856465, 51857404-51857413
565NLRP12190.9978028876337318654304629, 54313667-54313669, 54314393-54314395
566PRKCG190.834288443171347209454385749-54385750, 54385758-54385803, 54385813-54385849, 54385900-54385918, 54387473-54387480, 54392901-54392907, 54392913-54392914, 54392919-54392923, 54392932-54392989, 54393140-54393271, 54401821, 54403980, 54406360-54406369, 54409969-54409980, 54410001-54410005, 54410011-54410012
567PRPF31190.9983150054625946, 54627878-54627879
568TSEN34190.88210075026811093354695231-54695238, 54695283-54695375, 54695391-54695398, 54695665
569NLRP7190.9993577392422311455450976-55450977
570TNNT1190.85551330798511478955648548-55648558, 55648566-55648580, 55652271, 55652275-55652280, 55652311-55652324, 55652654-55652670, 55656919, 55657825-55657834, 55658049-55658075, 55658376-55658387
571TNNI3190.78981937602612860955667578-55667625, 55667639-55667659, 55667680-55667697, 55667972-55668012
572AURKC190.994623655914593057743141-57743145
573TPO20.9225553176321728021480916-1480948, 1480982-1480987, 1481003-1481047, 1481057-1481060, 1481093-1481117, 1481145-1481158, 1481204-1481252, 1481258-1481296, 1481345, 1481349
574RPS720.98803418803475853623232-3623236, 3623263-3623264
575KLF1120.97270955165742153910183844-10183885
576LPIN120.9988776655443267311955329-11955330, 11955333
577MYCN20.693906810036427139516082404-16082410, 16082433-16082463, 16082473-16082484, 16082492-16082600, 16082629-16082858, 16082867, 16082882, 16082895-16082928, 16086185-16086186
578MATN320.887063655031165146120212173-20212183, 20212205-20212249, 20212284-20212392
579APOB20.994522348817751369221266736-21266810
580POMC20.8544776119411780425384063-25384079, 25384164-25384211, 25384331, 25384357-25384358, 25384412-25384448, 25384464-25384475
581HADHB20.9992982456141142526507825
582OTOF20.956456456456261599426685049, 26696908-26696909, 26696914, 26696918-26696925, 26696955-26696958, 26696968, 26697383-26697391, 26697396-26697409, 26697517-26697518, 26697526-26697530, 26699133, 26699137, 26699759-26699911, 26700089-26700140, 26700336-26700339, 26702191-26702193
583EIF2B420.99325980392211163227592853-27592863
584C2orf7120.998448409626386729293648-29293649, 29293798, 29294053-29294055
585ALK20.98519432449172486329451816, 29462675-29462681, 29754866-29754871, 30143237-30143245, 30143402-30143413, 30143419-30143421, 30143423-30143425, 30143492-30143522
586XDH20.9995002498752400231560609, 31604522
587SRD5A220.9356955380584976231805823-31805846, 31805874-31805880, 31805883-31805900
588SPAST20.796866558617376185132288915-32288952, 32288978-32289315
589CYP1B120.821691176471291163238301660, 38301667-38301673, 38301886-38301888, 38301894, 38301899-38301906, 38301919-38301942, 38301954-38301988, 38301995-38302053, 38302090-38302096, 38302170-38302218, 38302284-38302341, 38302386-38302389, 38302397-38302399, 38302420-38302451
590SOS120.99475262368821400239222327, 39285891, 39347490-39347491, 39347547-39347563
591ABCG520.94427402863109195644050056-44050062, 44058918-44058919, 44058958-44058982, 44058992-44058996, 44059086-44059141, 44059171-44059178, 44059192, 44059198-44059201, 44059221
592ABCG820.9915924826917202244099142-44099143, 44099419-44099422, 44099430-44099437, 44100980, 44102367-44102368
593LRPPRC20.99522102747920418544115783, 44153052, 44222967-44222973, 44222984-44222994
594SIX320.77077077077122999945169307-45169325, 45169333-45169396, 45169426, 45169437-45169458, 45169502-45169515, 45169522-45169535, 45169569-45169588, 45169597, 45169609-45169617, 45169634-45169668, 45169695-45169704, 45171736-45171745, 45171754, 45171757, 45171784-45171791
595EPCAM20.9777777777782194547596645, 47596656-47596661, 47596684-47596693, 47596698-47596700, 47596703
596MSH220.99037433155127280547630468-47630493, 47639636
597MSH620.936321332354260408348010373-48010632
598LHCGR20.96047619047683210048915925-48915927, 48982686-48982687, 48982691-48982695, 48982729-48982794, 48982800-48982806
599NRXN120.965875706215151442550758412-50758417, 51254671-51254673, 51254676, 51254767-51254799, 51255072-51255078, 51255118-51255148, 51255262-51255274, 51255278-51255279, 51255294-51255295, 51255337-51255362, 51255385-51255411
600EFEMP120.99325236167310148256102091-56102094, 56102158, 56144958, 56144972, 56144975-56144977
601PEX1320.9991749174921121261258684
602ATP6V1B120.98767833981819154271163111-71163112, 71163128-71163133, 71163173, 71163185-71163187, 71163196-71163200, 71188070, 71192109
603MCEE20.9792843691151153171337209, 71337219-71337221, 71337235-71337241
604DYSF20.99449685534635636071694034-71694040, 71753450-71753476, 71801426
605SPR20.64503816793927978673114562-73114730, 73114743-73114749, 73114761-73114863
606ALMS120.9900831733851241250473612997-73613074, 73613084-73613087, 73613160-73613164, 73613277-73613302, 73675742, 73676823, 73676875, 73679586-73679589, 73679599, 73679745-73679747
607SLC4A520.9982425307566341474460581-74460584, 74513019, 74531616
608DCTN120.99061767005536383774590479-74590496, 74590514-74590516, 74590528-74590529, 74596523-74596525, 74596529-74596531, 74598124-74598127, 74605327, 74605362-74605363
609MOGS20.96181384248296251474689004-74689008, 74692027-74692031, 74692066-74692068, 74692078-74692083, 74692098, 74692101, 74692143-74692164, 74692171-74692205, 74692243, 74692257-74692258, 74692261, 74692267-74692273, 74692355-74692361
610HTRA220.851851851852204137774757134, 74757186-74757234, 74757262-74757303, 74757332-74757376, 74757387-74757391, 74757436-74757479, 74757527-74757544
611SUCLG120.9990393852071104184668456
612GGCX20.98462889767235227785787989, 85788517-85788550
613SFTPB20.97731239092526114685890909, 85895262-85895284, 85895292, 85895295
614REEP120.9471947194723260686564602-86564633
615EIF2AK320.956132497762147335188926638-88926655, 88926664-88926792
616RPIA20.99358974359693688991293-88991298
617TMEM12720.8158995815913271796930883-96930925, 96930962-96930996, 96931007-96931012, 96931019-96931032, 96931039-96931041, 96931066-96931070, 96931077-96931090, 96931095-96931106
618SNRNP20020.9998440180941641196962712
619ZAP7020.939784946237112186098340560-98340564, 98340607-98340613, 98340749-98340754, 98340803-98340884, 98349670-98349675, 98351169-98351172, 98355846, 98355849
620RANBP220.9872868217051239675109336133-109336134, 109347230, 109347802, 109357110-109357116, 109363167-109363200, 109368082-109368110, 109368327-109368341, 109371659, 109378625, 109382787-109382793, 109383051-109383058, 109383268-109383274, 109383315-109383321, 109383357, 109383771, 109399168
621NPHP120.99459193707112034110917823-110917832, 110919189
622MERTK20.979633000112656313-112656366, 112786409-112786412, 112786416, 112786420-112786423
623GLI220.8281873555988184761121555022-121555025, 121712960-121712962, 121728146-121728153, 121728172-121728178, 121729620-121729632, 121745820-121745835, 121745988-121745994, 121746002-121746003, 121746017-121746024, 121746083-121746511, 121746542-121746581, 121746609-121746611, 121746625-121746628, 121746634-121746643, 121746651-121746656, 121746693-121746713, 121746790-121746811, 121746822-121746824, 121746840-121746854, 121746953-121746960, 121747024-121747025, 121747058-121747095, 121747117-121747119, 121747183-121747200, 121747246-121747251, 121747321-121747363, 121747402-121747438, 121747470-121747486, 121747492-121747503, 121747655-121747657, 121747661-121747670
624BIN120.966891133558591782127808378-127808384, 127808397-127808428, 127808785-127808791, 127816625-127816637
625PROC20.8838383838381611386128178889, 128178893-128178904, 128178920-128178925, 128180508-128180517, 128180610-128180627, 128180637-128180747, 128186095-128186097
626CFC120.800595238095134672131279404, 131280366-131280477, 131280758-131280760, 131280778-131280785, 131285307-131285312, 131285362, 131285378-131285380
627LCT20.996715076072195784136567437-136567439, 136567444-136567447, 136575342, 136590687-136590697
628MCM620.977696674777552466136616947-136616959, 136633881-136633922
629ZEB220.97695473251843645145147392-145147401, 145161627, 145274845-145274917
630NEB20.9986482427162719974152402512, 152417740, 152432727, 152432782-152432785, 152432792-152432800, 152486098, 152486105-152486109, 152486118, 152512821-152512824
631CACNB420.99936020473411563152732984
632SCN2A20.996510468594216018166171981-166171990, 166188061-166188064, 166237629-166237632, 166237705-166237707
633SCN1A20.998332499583105997166903283-166903284, 166911245-166911252
634SCN9A20.993933265925365934167085413, 167089953, 167089958-167089959, 167141064, 167141069-167141070, 167141074-167141076, 167141100-167141106, 167141115, 167141123, 167141131-167141139, 167144971-167144977, 167144981
635SLC25A1220.99901816396722037172725332-172725333
636ITGA620.9444444444441823276173292517-173292698
637CHN120.986231884058191380175869622-175869640
638HOXD1320.6085271317834041032176957619-176957848, 176957858-176957932, 176957938-176958028, 176958043, 176958160, 176958267-176958272
639AGPS20.976732422863461977178257582-178257620, 178257714-178257715, 178346859-178346863
640PRKRA20.95010615711347942179296824, 179296981, 179312278-179312281, 179312288-179312296, 179312305-179312307, 179315704-179315731, 179315742
641DFNB5920.99622285174741059179318291, 179320841-179320843
642TTN20.99931170696769100248179392321-179392360, 179392405-179392409, 179424094, 179425477-179425481, 179502116, 179510663-179510664, 179523799, 179539111, 179587856-179587859, 179593721, 179650732, 179650837-179650840, 179650847-179650848, 179654173
643NEUROD120.987861811391131071182542824-182542836
644COL3A120.990229493297434401189849593, 189861196, 189871663-189871702, 189872616
645COL5A220.994888888889234500189909936-189909955, 189932796-189932798
646PMS120.99964272954612799190719085
647MSTN20.99911347517711128190926988
648STAT120.984909010209342253191859883-191859915, 191873727
649HSPD120.99767711962841722198351840-198351843
650CASP820.980828695114311617202123009, 202149544, 202149608-202149623, 202149663-202149673, 202149797-202149798
651ALS220.99819059107494974202569867-202569868, 202571646-202571652
652BMPR220.99935835739523117203384901-203384902
653NDUFS120.99954212454212184207018361
654FASTKD220.99484294421112133207652768-207652774, 207652788, 207652799-207652801
655CPS120.99844548079174503211460233-211460239
656ABCA1220.98998459168787788215809785, 215809788, 215846947, 215854084-215854134, 215854173-215854181, 215854292-215854298, 215862432-215862439
657SMARCAL120.99685863874392865217297457-217297465
658PNKD20.987046632124151158219204554-219204557, 219204565-219204575
659CYP27A120.99937343358411596219646924
660WNT10A20.8787878787881521254219745718-219745722, 219745731-219745757, 219745767-219745788, 219745805, 219757557-219757564, 219757616-219757619, 219757628, 219757633-219757637, 219757642-219757646, 219757705-219757735, 219757867-219757873, 219757893-219757928
661DES20.9079971691441301413220283238-220283280, 220283286-220283292, 220283330-220283344, 220283395-220283396, 220283404-220283428, 220283472, 220283598-220283605, 220283696-220283724
662OBSL120.8402741170279095691220416269-220416308, 220416370, 220416420-220416424, 220416433-220416443, 220416464-220416465, 220416851-220416877, 220416901-220416907, 220416938, 220417263-220417278, 220417284-220417397, 220417668-220417675, 220417693-220417696, 220417700-220417708, 220423041, 220424042-220424046, 220432922-220432924, 220434995-220435003, 220435208-220435211, 220435256-220435262, 220435289-220435331, 220435354-220435360, 220435370-220435954
663PAX320.99538866930271518223163263-223163269
664COL4A420.994273301738295064227942676-227942681, 227942686-227942690, 227942703-227942705, 227968703-227968716, 227968766
665COL4A320.997805705167115013228029445-228029451, 228029494, 228102700, 228145259-228145260
666SLC19A320.99396378269691491228563994-228563996, 228564051-228564056
667CHRNG20.97425997426401554233405347, 233405355, 233405367-233405376, 233406116, 233406223-233406229, 233409247-233409259, 233409272-233409275, 233409524-233409525, 233409591
668SAG20.99753694581331218234243644-234243646
669UGT1A120.99937578027511602234668953
670COL6A320.9886721208311089534238244872-238244895, 238249097-238249111, 238249299-238249300, 238249304, 238249317-238249321, 238270424-238270425, 238280461-238280465, 238283249, 238283335-238283368, 238283445-238283447, 238283452-238283456, 238287334, 238303560-238303567, 238303577, 238303603
671AGXT20.9754028838291179241808283-241808288, 241808292, 241808299-241808304, 241808308, 241808319-241808323, 241808327-241808332, 241808352-241808355
672D2HGDH20.8409961685822491566242674654-242674689, 242674707-242674731, 242674758-242674760, 242674764, 242674803, 242689591-242689600, 242689683, 242689692-242689693, 242689697-242689701, 242689707-242689709, 242707169-242707200, 242707225-242707250, 242707281-242707384
673C20orf54200.99858156028421410744361, 746184
674IDH3B200.99481865285611582641135-2641140
675AVP200.2626262626263654953063276-3063448, 3063623-3063814
676PANK2200.75481611208442017133869783-3869826, 3869865-3869995, 3870001-3870065, 3870076-3870082, 3870092-3870182, 3870206-3870231, 3870243-3870298
677PRNP200.99868766404217624680152
678JAG1200.9824993163864365710621449, 10621854-10621857, 10623161, 10654105-10654151, 10654168-10654178
679C20orf7200.9922928709068103813782207-13782214
680THBD200.895833333333180172823028448-23028449, 23029093, 23029193-23029195, 23029261-23029264, 23029271, 23029280, 23029284-23029296, 23029397-23029405, 23029411-23029412, 23029417-23029419, 23029424-23029428, 23029493-23029495, 23029505-23029510, 23029530-23029548, 23029582, 23029585, 23029588, 23029593-23029596, 23029692-23029729, 23029741-23029743, 23029853-23029856, 23029862, 23029867, 23029872-23029900, 23030047-23030050, 23030056-23030062, 23030076-23030080, 23030085-23030092, 23030101
681SNTA1200.827404479578262151832000152-32000155, 32000425-32000426, 32031151-32031164, 32031168, 32031174-32031184, 32031197-32031426
682GDF5200.92363877822115150634022396-34022401, 34022448, 34025118-34025134, 34025142-34025171, 34025214-34025220, 34025254-34025274, 34025549-34025581
683HNF4A200.98596491228120142543030047, 43052756-43052758, 43052775-43052787, 43052797-43052799
684ADA200.95879120879145109243255142-43255145, 43255157-43255160, 43257766-43257771, 43257776, 43257782, 43280216-43280244
685CTSA200.97127588510443149744520226-44520262, 44520357-44520358, 44523633-44523636
686SLC2A10200.98831488314919162645338376-45338379, 45354887-45354901
687SALL4200.98134092346659316250407020, 50408315-50408327, 50408338-50408342, 50408346-50408350, 50418825-50418858, 50418884
688PCK1200.9994649545211186956137827
689VAPB200.9207650273225873256964516-56964573
690GNAS200.9579945799463173857415325-57415355
691GNAS200.840719332049496311457428696-57428722, 57428905, 57429066-57429067, 57429092-57429140, 57429316-57429320, 57429381, 57429394, 57429438-57429440, 57429448-57429452, 57429462-57429506, 57429559-57429563, 57429576, 57429592-57429614, 57429625-57429666, 57429699-57429743, 57429837-57429845, 57429851-57429981, 57429997-57430002, 57430045-57430068, 57430075-57430081, 57430108-57430143, 57430247, 57430261-57430269, 57430300, 57430307-57430311, 57430316-57430320, 57430361-57430367
692COL9A3200.914355231144176205561448417-61448494, 61448919-61448977, 61453504-61453505, 61456342-61456354, 61456363-61456373, 61457591-61457597, 61461902-61461907
693CHRNA4200.91932059448152188461981056, 61981071-61981075, 61981088-61981090, 61981246-61981261, 61981588-61981631, 61981648-61981675, 61981703-61981704, 61981941-61981944, 61987406-61987415, 61992449-61992456, 61992460-61992463, 61992471-61992485, 61992487-61992494, 61992500-61992503
694KCNQ2200.884688812524302261962038030, 62038035-62038036, 62038043-62038056, 62038235-62038237, 62038273-62038290, 62038617, 62038677-62038683, 62044852, 62065196-62065202, 62076654-62076667, 62103521-62103535, 62103544-62103563, 62103594-62103746, 62103771-62103816
695SOX18200.1307359307361004115562679521-62679524, 62679539-62679542, 62679619, 62679646-62679654, 62679662, 62679670-62679671, 62679678-62679695, 62679701-62679707, 62679716-62680315, 62680512-62680869
696APP210.98357111975838231327542895-27542921, 27542928-27542938
697BACH1210.98914518317524221130701870-30701872, 30715015-30715031, 30715067-30715070
698SOD1210.946236559142546533032083, 33032088-33032111
699IFNGR2210.92800788954673101434775850-34775922
700RCAN1210.66798418972325275935987059-35987310
701RUNX1210.915453915454122144336164432-36164475, 36164508-36164509, 36164513-36164517, 36164599-36164621, 36164702-36164704, 36164708-36164709, 36164715-36164722, 36164762, 36259260-36259264, 36259293-36259321
702CLDN14210.9833333333331272037833304-37833311, 37833327, 37833436-37833438
703TMPRSS3210.9992673992671136543810145
704CBS210.9945652173919165644480611-44480619
705CSTB210.7777777777786629745196085-45196150
706AIRE210.725885225885449163845705890-45706021, 45706440-45706444, 45706501-45706507, 45706588, 45706905, 45706979-45706985, 45711020-45711034, 45712241, 45712876-45712930, 45712963, 45712966, 45712974-45713058, 45713687, 45713690, 45713696-45713704, 45713715-45713720, 45713726, 45713731-45713735, 45713740, 45713749-45713754, 45713773-45713776, 45713786-45713793, 45714284-45714318, 45714325-45714385
707ITGB2210.938961038961141231046306753-46306754, 46308608-46308698, 46308723-46308745, 46308792-46308810, 46330221-46330226
708COL18A1210.925166191833394526546875468-46875505, 46876362, 46876424-46876427, 46876480-46876484, 46876526, 46876530-46876535, 46876546-46876549, 46876580, 46876648-46876676, 46876706-46876708, 46876720-46876722, 46876742, 46888218-46888238, 46888655-46888657, 46888668, 46888677, 46896331-46896334, 46896363, 46906847-46906848, 46909432-46909434, 46911164-46911182, 46911220-46911228, 46913077-46913078, 46924383-46924385, 46924403-46924408, 46924418, 46924422, 46924434-46924452, 46925056-46925062, 46925079-46925121, 46925293, 46925297, 46925305, 46925308, 46925794-46925820, 46927475-46927477, 46929313-46929316, 46929467-46929474, 46929499-46929504, 46929508-46929511, 46929978-46929980, 46929983, 46930010-46930048, 46930111-46930153, 46932145-46932151, 46932210-46932212
709COL6A1210.933916423712204308747401765-47401818, 47401832-47401846, 47407535-47407538, 47407543-47407549, 47410172-47410191, 47410309-47410336, 47410721-47410724, 47419589-47419606, 47420673-47420681, 47422619-47422624, 47423397-47423404, 47423419-47423432, 47423438-47423443, 47423505-47423507, 47423633-47423640
710COL6A2210.898366013072311306047531391-47531405, 47531413-47531459, 47531895-47531898, 47531910-47531913, 47531997-47532037, 47539752, 47545180-47545225, 47545764-47545782, 47545819-47545864, 47545979-47545983, 47545991, 47545994, 47546088-47546094, 47551910-47551916, 47552007-47552036, 47552062-47552075, 47552082-47552087, 47552280-47552288, 47552389-47552392, 47552455-47552458
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830CTSO40.884057971014112966156863545-156863585, 156863592-156863608, 156874946-156874999
831GLRB40.985274431058221494158041712-158041726, 158041738-158041744
832GK40.977135980746381662166199426-166199445, 166199512-166199518, 166199600-166199610
833SLC25A440.876254180602111897186064527-186064637
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840DNAH550.9845045045052151387513810216-13810254, 13810268-13810269, 13810301-13810325, 13810338-13810365, 13868100-13868101, 13871034-13871047, 13894831, 13894894, 13901479, 13901482, 13916465-13916564, 13919439
841ANKH50.97498309668737147914871461-14871497
842FAM134B50.840026773762239149416475086, 16616777-16616822, 16616833-16616843, 16616856-16616883, 16616895-16616914, 16616932, 16616949-16617080
843SLC45A250.9968612680485159333984567-33984568, 33984573-33984575
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846GHR50.9994783515911191742718969
847ITGA250.99689791314211354652285328-52285338
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850SMN250.9740112994352388570234666-70234671, 70238369-70238385
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894NHLRC160.9983164983162118818122672, 18122678
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896HLA-H60.74933333333318875029855777-29855780, 29855784, 29855800, 29855817-29855883, 29855931-29855937, 29855944-29855945, 29855975-29855981, 29855996-29856001, 29856293-29856310, 29856343-29856380, 29856404-29856405, 29856423-29856431, 29856436-29856443, 29856513-29856519, 29856535, 29856539, 29856543, 29856546, 29856562-29856568
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900HLA-DQA160.65755208333326376832605236-32605237, 32605261-32605262, 32609091-32609108, 32609119-32609126, 32609147-32609153, 32609160-32609162, 32609167-32609169, 32609181, 32609195, 32609199, 32609207-32609279, 32609299, 32609308-32609315, 32609749, 32609809-32609817, 32609848-32609877, 32610433-32610465, 32610475-32610517, 32610523-32610541
901HLA-DQB160.33333333333352478632629137, 32629161-32629170, 32629189-32629202, 32629227-32629228, 32629746-32629806, 32629822-32629833, 32629844-32629891, 32629904-32629910, 32629929-32629938, 32632575-32632813, 32632820-32632844, 32634285-32634377, 32634383-32634384
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909RUNX260.892720306513168156645390345-45390346, 45390349-45390378, 45390384-45390396, 45390404-45390526
910MUT60.97514425210856225349403269-49403317, 49409645-49409651
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916SLC17A560.93682795698994148874363516-74363609
917MYO660.99585277345816385876558139-76558153, 76623806
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919SLC35A160.9950690335315101488182729-88182733
920SIM160.99956540634512301100897257
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925COL10A160.994615761136112043116441745-116441750, 116442360, 116442370-116442373
926GJA160.99564838990451149121769110, 121769113-121769115, 121769120
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930PEX760.883744855967113972137143804-137143868, 137143886-137143933
931PEX360.99821746880621122143792105-143792106
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937TBP60.8764705882351261020170871010-170871135
938LFNG70.61052631578944411402559496-2559901, 2564365-2564377, 2564875-2564897, 2565110, 2565113
939PMS270.9911162611052325896013046-6013052, 6026905-6026911, 6027002, 6038811, 6045523-6045529
940TWIST170.43349753694634560919156416-19156419, 19156428-19156430, 19156477-19156481, 19156546-19156555, 19156561-19156587, 19156640-19156707, 19156717-19156944
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943HOXA170.98908730158711100827134162, 27135335-27135340, 27135413-27135415, 27135418
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946GHRHR70.9992138364781127231009565
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948BBS970.9996246246251266433313511
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950PGAM270.990813648294776244104976-44104982
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956GUSB70.9989775051122195665439348-65439349
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960ELN70.96459770114977217573442518-73442519, 73442530-73442580, 73462861, 73466278-73466297, 73477663-73477665
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962POR70.9632892804775204375609719-75609724, 75614230-75614240, 75614242-75614246, 75614444-75614470, 75614488-75614511, 75614910-75614911
963HSPB170.76051779935314861875932068, 75932181-75932183, 75932189-75932190, 75932195-75932216, 75932235-75932242, 75932247-75932258, 75932269-75932277, 75932285-75932321, 75932338-75932391
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966KRIT170.9981908638634221191852145-91852148
967PEX170.99221183800630385292157625-92157636, 92157647-92157664
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973SLC26A470.987622705933292343107302112-107302117, 107323647-107323668, 107323966
974SLC26A370.99694989106872295107432371-107432376, 107432381
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978AASS70.99856166846542781121769452, 121769519-121769521
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980FLNC70.9749327463932058178128470692-128470737, 128470753-128470765, 128470784-128470788, 128470826-128470835, 128470853-128470893, 128470904-128470908, 128471008-128471027, 128477264-128477300, 128482321, 128482327, 128482651-128482653, 128487915, 128489398-128489401, 128489597-128489598, 128494262-128494270, 128498187-128498193
981ATP6V0A470.993658343242162523138394389-138394391, 138394481-138394487, 138437402, 138437409-138437411, 138437415-138437416
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983PRSS170.89516129032378744142458414-142458440, 142458508-142458529, 142459664-142459682, 142459831-142459833, 142460366-142460372
984CLCN170.992922143579212967143047472-143047492
985CNTNAP270.997247247247113996145813975-145813985
986KCNH270.7270114942539503480150644101-150644142, 150644416-150644455, 150644462-150644471, 150644505, 150644511-150644513, 150644554-150644566, 150644590-150644602, 150644694-150644827, 150644845-150644851, 150644926, 150644929, 150645547-150645554, 150645565-150645566, 150645571-150645572, 150645603, 150645606, 150645610, 150645613-150645615, 150648789-150648795, 150648875-150648910, 150648922-150648923, 150654524-150654531, 150655147-150655165, 150655213-150655531, 150655545-150655552, 150671838-150672029, 150674926-150675001
987PRKAG270.957894736842721710151329155-151329224, 151573605-151573606
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990CLN880.988385598142108611719537-1719539, 1728661-1728667
991MCPH180.9944178628391425086299596-6299602, 6478975-6478976, 6478986-6478990
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993TUSC380.98949379178611104715397973-15397979, 15398020-15398023
994ASAH180.97979797979824118817928861, 17928868, 17941494-17941511, 17941517-17941520
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999FGFR180.9971579374757246338271158-38271159, 38287326-38287330
1000ADAM980.9951219512212246038854668-38854679
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1002HGSNAT80.929245283019135190842995640-42995757, 43025807-43025821, 43025834, 43047533
1003CHD780.986101845675125899461654454-61654464, 61654471, 61654478, 61654482-61654486, 61654502-61654509, 61654551, 61654712, 61713071-61713077, 61734356-61734392, 61734404-61734410, 61734463-61734479, 61734583-61734591, 61734598-61734604, 61734684, 61734694, 61778278-61778288
1004TTPA80.82795698924714483763998399-63998424, 63998437-63998508, 63998527-63998534, 63998543-63998580
1005CYP7B180.96383957922455152165527653-65527660, 65711072-65711078, 65711083-65711089, 65711098-65711130
1006EYA180.9994378864531177972129008
1007CA280.9565772669223478386376311-86376344
1008CNGB380.9987654320993243087590957-87590959
1009NBN80.99470198675512226590996761-90996772
1010TMEM6780.98929049531532298894777686-94777692, 94777807-94777812, 94777831-94777844, 94784858, 94811914-94811917
1011GDF680.679824561404438136897156901-97156905, 97156977, 97157126-97157189, 97157199-97157284, 97157344-97157350, 97157354-97157363, 97157368, 97157406-97157579, 97157641-97157660, 97172676-97172681, 97172779-97172783, 97172811-97172831, 97172883-97172920
1012VPS13B80.9959146239794911994100050658, 100123345-100123348, 100123391-100123397, 100123401, 100123406-100123419, 100123459-100123463, 100454807, 100831031, 100831038-100831045, 100831053-100831054, 100874122, 100880581-100880584
1013RRM2B80.99053030303101056103251088-103251097
1014DPYS80.9083333333331431560105478904-105478910, 105478931-105478976, 105478983-105479007, 105479019-105479068, 105479098, 105479102-105479107, 105479111, 105479120-105479126
1015TRPS180.99948519948523885116599473-116599474
1016TNFRSF11B80.99751243781131206119964050-119964052
1017KCNQ380.9324169530361772619133492429-133492432, 133492505-133492511, 133492559-133492596, 133492620-133492625, 133492632-133492637, 133492664-133492779
1018TG80.994101360299498307133881997-133882002, 133882008, 133882019, 133882025-133882026, 133882032-133882037, 133920568-133920585, 134031849, 134034270-134034276, 134125757-134125763
1019NDRG180.961181434599461185134251153-134251156, 134251161-134251163, 134274296-134274334
1020SLURP180.9743589743598312143822633-143822640
1021CYP11B180.956349206349661512143956396-143956399, 143957175-143957215, 143958513-143958533
1022CYP11B280.8829365079371771512143993946-143994003, 143994026-143994032, 143994069-143994096, 143994226-143994227, 143994275, 143994279, 143994748-143994754, 143994797-143994822, 143996536-143996559, 143998608-143998630
1023PLEC80.717324795446397314055144990364-144990398, 144990460, 144990476-144990495, 144990508-144990516, 144990587-144990592, 144990746-144990749, 144990798-144990807, 144991039-144991047, 144991866-144991870, 144991970-144991975, 144991984, 144991998-144992005, 144992010, 144992013, 144992145, 144992250-144992255, 144992268-144992270, 144992351-144992381, 144992388-144992426, 144992582-144992597, 144992685-144992694, 144992702, 144992705, 144992792-144992851, 144992899-144992903, 144992982, 144993058-144993073, 144993078, 144993197-144993198, 144993371-144993379, 144993508-144993514, 144993518-144993522, 144993527-144993533, 144993592-144993602, 144993619-144993620, 144993624-144993629, 144993635-144993648, 144993682, 144993686-144993689, 144993695-144993745, 144993761-144993765, 144993771-144993772, 144993795-144993855, 144993920-144993958, 144994067-144994070, 144994152-144994195, 144994306, 144994358-144994367, 144994371-144994376, 144994385-144994431, 144994479-144994483, 144994574, 144994580-144994581, 144994587-144994591, 144994604, 144994608-144994609, 144994807-144994822, 144994963-144994969, 144994980-144995015, 144995040-144995079, 144995089-144995093, 144995161-144995183, 144995342-144995367, 144995386-144995397, 144995459-144995507, 144995639-144995645, 144995667-144995715, 144995749-144995754, 144995774-144995845, 144995900-144995943, 144995964, 144996037-144996056, 144996130-144996136, 144996192-144996205, 144996235-144996265, 144996317-144996355, 144996364-144996405, 144996473-144996486, 144996520-144996541, 144996548-144996563, 144996673-144996695, 144996721, 144996763-144996767, 144996772, 144996774-144996776, 144996783-144996785, 144996837-144996840, 144996880-144996899, 144996992-144997019, 144997078-144997108, 144997143-144997147, 144997255-144997258, 144997408-144997416, 144997435-144997482, 144997492-144997496, 144997501-144997503, 144997507-144997512, 144997516-144997524, 144997606-144997613, 144997622-144997676, 144997685-144997694, 144997736-144997781, 144997825-144997941, 144997968-144998001, 144998027-144998060, 144998073-144998107, 144998181-144998203, 144998209-144998221, 144998228-144998250, 144998259-144998388, 144998397-144998409, 144998414-144998420, 144998444-144998476, 144998492-144998507, 144998529-144998558, 144998570-144998603, 144998611-144998660, 144998672-144998692, 144998710-144998741, 144998789, 144998794-144998806, 144998812, 144998817-144998824, 144998849-144999022, 144999046-144999097, 144999108-144999124, 144999129-144999133, 144999139-144999144, 144999168-144999213, 144999222-144999268, 144999278-144999319, 144999327-144999345, 144999354-144999384, 144999400-144999419, 144999439-144999478, 144999521-144999526, 144999538-144999623, 144999641-144999657, 144999696-144999704, 144999726-144999771, 144999780-144999814, 144999820-144999843, 144999850-144999889, 144999982-144999995, 145000003-145000010, 145000018, 145000027-145000052, 145001186-145001203, 145001496-145001503, 145001595-145001596, 145001703-145001715, 145001730-145001736, 145001742-145001775, 145001802-145001805, 145001822-145001847, 145001891-145001896, 145003302-145003313, 145003321-145003356, 145003379-145003418, 145003582-145003611, 145003629-145003678, 145003723-145003729, 145003814-145003835, 145003841, 145003859, 145003865-145003882, 145003896-145003899, 145003929-145003934, 145003939-145003952, 145003963-145003992, 145004104-145004109, 145004312-145004355, 145004362-145004397, 145004580-145004589, 145004599-145004606, 145004610-145004613, 145004628-145004631, 145005702-145005726, 145006141-145006200, 145006298-145006306, 145006317-145006341, 145006379-145006397, 145006568-145006571, 145006667-145006686, 145006709-145006714, 145006803-145006812, 145007026-145007052, 145007065-145007091, 145007110-145007115, 145007153-145007160, 145007179, 145007380-145007421, 145007500-145007503, 145008166-145008194, 145008207-145008216, 145008244-145008259, 145009085-145009097, 145009406, 145024352-145024354, 145024361-145024380, 145024523-145024529, 145024535-145024536, 145024583-145024586, 145024722-145024728, 145024840-145024841
1024GPT80.7122736418514291491145730630-145730651, 145730715-145730762, 145730773-145730791, 145730871-145730872, 145731243-145731247, 145731255-145731310, 145731388-145731410, 145731441-145731490, 145731511-145731514, 145731665-145731694, 145731700-145731738, 145731748-145731757, 145731884-145731929, 145731958-145731980, 145731995-145732039, 145732147, 145732159, 145732167-145732171
1025RECQL480.8855803694514153627145737909-145737915, 145738475-145738478, 145738493, 145738497-145738506, 145738519-145738521, 145738601-145738602, 145738715-145738721, 145738729-145738768, 145738770-145738773, 145738783-145738812, 145738862-145738864, 145738977-145738999, 145739067-145739087, 145739318-145739340, 145740379-145740382, 145741780, 145742441, 145742446, 145742456-145742462, 145742554-145742569, 145742574, 145742798-145742855, 145742863-145742892, 145742986-145743019, 145743085-145743168
1026DOCK890.9836507936511036300214977-215029, 382562-382568, 382575-382577, 382581-382584, 433974-433975, 452051-452084
1027VLDLR90.9752097635396526222622190-2622223, 2622235-2622264, 2622271
1028KCNV290.84554334554325316382717991-2718036, 2718208-2718213, 2718337-2718353, 2718390-2718415, 2718432-2718474, 2718567-2718569, 2718595-2718604, 2718725-2718769, 2718782-2718790, 2718931-2718943, 2718949-2718955, 2718964-2718991
1029GLIS390.94020766201216727934117842-4117843, 4117957-4117965, 4118019-4118096, 4118195-4118211, 4118288-4118328, 4118342-4118348, 4118375-4118387
1030JAK290.9926448955582533995066759-5066763, 5066774-5066775, 5077472-5077475, 5077487-5077490, 5077513-5077518, 5090455-5090458
1031GLDC90.9709435194258930636645350-6645357, 6645361-6645365, 6645377-6645392, 6645404-6645410, 6645425, 6645433-6645484
1032CDKN2A90.980891719745947121974702, 21974762-21974768, 21974772
1033CDKN2A90.9540229885062452221994197, 21994204-21994213, 21994221-21994227, 21994295-21994300
1034TOPORS90.99553855959214313832550926-32550934, 32550938, 32550953-32550956
1035APTX90.98931000971811102932973551-32973561
1036B4GALT190.9398496240672119733166756-33166757, 33166968-33166992, 33167099-33167143
1037GALT90.97543859649128114034646732-34646735, 34646738, 34646744-34646749, 34646755-34646771
1038VCP90.9995869475421242135059134
1039FANCG90.9973247726065186935075022-35075024, 35078297, 35079493
1040TPM290.998830409357185535685292
1041NPR290.9914122137427314435792580-35792581, 35792594-35792601, 35792606-35792607, 35792613-35792616, 35792676, 35792685-35792688, 35793031, 35806418-35806422
1042GRHPR90.9807497467071998737422790-37422798, 37424853-37424862
1043FXN90.84044233807310163371650716-71650774, 71650788-71650794, 71650819-71650826, 71650832-71650841, 71650847-71650863
1044TMC190.9991239597022228375369747, 75369750
1045TRPM690.9993409128364606977377964-77377967
1046VPS13A90.99611548556437952579840845-79840853, 79897038, 79897133-79897137, 79908385-79908388, 79908411-79908419, 79931196-79931202, 79933156, 79934499
1047AUH90.97647058823524102094123987-94123994, 94124002-94124004, 94124034-94124042, 94124053-94124055, 94124112
1048ROR290.97351694915375283294486174, 94495605-94495612, 94495715-94495716, 94712177-94712227, 94712233-94712245
1049PTCH190.946593001842232434498209520, 98209658-98209659, 98268689-98268748, 98268789-98268793, 98268852-98268881, 98270475-98270487, 98270501-98270505, 98270509-98270537, 98270557-98270643
1050FOXE190.1274509803929791122100616197-100616294, 100616303-100616656, 100616666-100617025, 100617033-100617190, 100617197-100617203, 100617281, 100617284
1051TGFBR190.935846560847971512101867488-101867584
1052ALG290.988808952838141251101983917-101983927, 101984051, 101984061-101984062
1053INVS90.99968730456513198103046743
1054FKTN90.991341991342121386108370217-108370219, 108370231, 108380351-108380358
1055DFNB3190.908590308372492724117240859-117240860, 117240863-117240864, 117240877, 117240885-117240886, 117266693-117266706, 117266734-117266738, 117266777-117266783, 117266789, 117266793, 117266799, 117266809-117266817, 117266837-117266906, 117266914-117266996, 117267013-117267049, 117267064-117267077
1056CDK5RAP290.997184090109165682123169369, 123170726-123170729, 123171422-123171424, 123171429-123171433, 123301418-123301420
1057GSN90.964665815241832349124062174-124062256
1058NR5A190.8362193362192271386127245153-127245183, 127255331-127255333, 127255404-127255410, 127255415-127255417, 127262854, 127262858-127262862, 127262867-127262870, 127265358, 127265367-127265375, 127265398-127265425, 127265433-127265481, 127265491-127265499, 127265573-127265601, 127265619-127265660, 127265669-127265674
1059LMX1B90.7631814119752651119129376840, 129376844-129376845, 129376858, 129376862-129376867, 129377662-129377821, 129377831-129377848, 129453212-129453213, 129455544-129455560, 129456045-129456091, 129458143-129458146, 129458155-129458159, 129458164-129458165
1060STXBP190.979580573951371812130374683-130374719
1061ENG90.952453211937941977130587160-130587163, 130587170-130587174, 130587544, 130587582-130587583, 130587631-130587634, 130588015-130588040, 130588064-130588066, 130588075-130588076, 130588080-130588089, 130616583-130616605, 130616616-130616629
1062GLE190.983309489747352097131267109-131267116, 131267127-131267139, 131267154-131267162, 131267167-131267169, 131267182-131267183
1063DOLK90.979591836735331617131708939-131708942, 131709038, 131709221-131709224, 131709418-131709426, 131709440-131709441, 131709513-131709517, 131709522-131709525, 131709538-131709541
1064TOR1A90.85985985986140999132586187-132586242, 132586277-132586360
1065POMT190.981634527089402178134382807-134382812, 134394321, 134394799-134394819, 134394824-134394828, 134397455-134397461
1066SETX90.995892457058338034135139846-135139850, 135139862-135139863, 135139867-135139868, 135139874-135139885, 135139890-135139896, 135139915-135139918, 135140189
1067TTF190.99852832965442718135276846-135276849
1068TSC190.994277539342203495135771933-135771937, 135771987-135772001
1069CEL90.8353148392783742271135937446-135937455, 135944192-135944198, 135944521-135944527, 135946487-135946493, 135946527-135946534, 135946648-135946967, 135946981-135946995
1070SURF190.88261351052106903136223124-136223175, 136223276-136223329
1071ADAMTS1390.938375350142644284136293754-136293891, 136295060-136295095, 136295166-136295190, 136301986, 136302000-136302007, 136302033-136302045, 136302056, 136302059, 136310932, 136320633, 136321745-136321783
1072DBH90.99838187702331854136522278-136522279, 136523527
1073SARDH90.962277838231042757136535743-136535752, 136568109-136568114, 136582557-136582577, 136597562-136597574, 136597661-136597665, 136597680-136597720, 136599234, 136599263-136599264, 136599291-136599295
1074COL5A190.9778865325361225517137534034-137534142, 137642705, 137686950-137686951, 137705844, 137705849-137705851, 137716512-137716515, 137726864, 137726982
1075LHX390.8097601323412301209139089275-139089276, 139089286, 139089289, 139089295-139089298, 139089354-139089359, 139089509-139089510, 139090648-139090654, 139090664-139090666, 139090754-139090771, 139090777-139090905, 139091549-139091553, 139094809-139094837, 139094845-139094867
1076INPP5E90.7524547803624791935139325454-139325461, 139326278-139326279, 139326302-139326316, 139326325-139326330, 139327010-139327016, 139327020-139327021, 139327700-139327707, 139327712, 139328583-139328584, 139329284, 139333060-139333070, 139333132-139333173, 139333180-139333215, 139333296-139333351, 139333439-139333449, 139333458-139333518, 139333532-139333536, 139333578-139333604, 139333613-139333620, 139333627-139333631, 139333636, 139333644-139333652, 139333675-139333683, 139333700-139333714, 139333721-139333731, 139333752-139333871
1077NOTCH190.8929316640588217668139390599, 139390602, 139390846-139390856, 139390914-139390934, 139390952-139390988, 139390996-139391034, 139391059-139391062, 139391068-139391071, 139391263-139391301, 139391311-139391352, 139391400-139391407, 139391504-139391557, 139391706-139391712, 139391730-139391834, 139391869-139391902, 139391941-139391984, 139395031-139395049, 139395092-139395106, 139395214-139395215, 139395219-139395226, 139395238, 139395245, 139395249-139395252, 139396261-139396265, 139396275-139396277, 139396287-139396288, 139396825-139396857, 139399181-139399217, 139399261-139399264, 139399394-139399396, 139399523-139399527, 139400002, 139400005, 139400221-139400226, 139400262-139400301, 139400328-139400330, 139402720, 139402745, 139402749-139402751, 139403352-139403353, 139403359-139403368, 139403392-139403399, 139407473-139407475, 139407493-139407511, 139407871, 139411736-139411738, 139411789-139411792, 139411801-139411816, 139411827-139411828, 139411834-139411835, 139417561-139417605, 139440182-139440238
1078AGPAT290.708482676225244837139571070-139571072, 139571076, 139571440-139571469, 139571875, 139571922-139571964, 139581635-139581639, 139581649-139581809
1079SLC34A390.7061111111115291800140127045-140127047, 140127118, 140127239, 140127242, 140127456-140127461, 140127668-140127677, 140127689-140127724, 140127792-140127803, 140127835-140127842, 140128085-140128088, 140128126-140128132, 140128148-140128174, 140128315-140128384, 140128566-140128624, 140128634-140128662, 140128690-140128696, 140128868-140128889, 140128896-140128928, 140128938-140128971, 140129128-140129133, 140129139-140129141, 140130444, 140130520, 140130523, 140130567-140130610, 140130676-140130680, 140130713, 140130727-140130754, 140130770-140130812, 140130843-140130868
1080EHMT190.9725429817811073897140513481-140513501, 140605442-140605455, 140611078-140611110, 140611430-140611440, 140611445, 140637823-140637824, 140728829-140728830, 140728835, 140728845, 140729269-140729285, 140729292-140729293, 140729302, 140729309
1081SHOXX0.90216154721386879595427-595450, 595465, 595547-595561, 605239-605284
1082CSF2RAX0.996168582375513051422191-1422195
1083KAL1X0.9701419481166120438699983-8700019, 8700054-8700077
1084GPR143X0.928627450989112759733619-9733665, 9733691-9733734
1085RPS6KA3X0.9977507872245222320179831-20179835
1086SMSX0.95549500454149110121958943-21958991
1087ARXX0.750148016578422168925025267, 25025294-25025307, 25031216-25031222, 25031275-25031287, 25031352-25031390, 25031407-25031415, 25031428-25031497, 25031544-25031812
1088RPGRX0.921653657126271345938145349-38145396, 38145403-38145462, 38145474-38145483, 38145503-38145655
1089BCORX0.9986712224757526839923616-39923622
1090NYXX0.649377593361507144641332744-41332746, 41332820-41332825, 41332833-41333210, 41333228-41333254, 41333272-41333280, 41333430-41333479, 41333513-41333546
1091SYN1X0.834277620397351211847433506-47433520, 47433529-47433535, 47433559-47433566, 47433613-47433659, 47433677-47433808, 47433816-47433840, 47433897-47433949, 47434115-47434123, 47478818-47478849, 47478999-47479013, 47479112-47479119
1092CFPX0.97730496453932141047485741-47485748, 47488934-47488942, 47488975, 47488988-47489001
1093WASX0.97945659377131150948547187-48547191, 48547196-48547207, 48547234-48547242, 48547382-48547383, 48547387-48547389
1094FGD1X0.9993069993072288654494287, 54497145
1095ARX0.947882736156144276366765145-66765231, 66765573-66765578, 66766353-66766357, 66766367-66766412
1096DLG3X0.9975550122256245469665116-69665121
1097MED12X0.99020508111464653470338611-70338617, 70338638-70338671, 70338681-70338703
1098TAF1X0.972544878564156568270586165-70586318, 70617108-70617109
1099SLC16A2X0.96036916395273184273641356-73641390, 73641400-73641413, 73641466-73641474, 73641485-73641489, 73641616-73641620, 73641684-73641688
1100BRWD3X0.99426881124131540980064940-80064970
1101PCDH19X0.98971566848234330699663554-99663587
1102HPRT1X0.95890410958927657133594342-133594368
1103SLC9A6X0.954890788224952106135067838-135067917, 135067937-135067951
1104ZIC3X0.8881766381771571404136648964-136648970, 136648981-136649015, 136651068-136651177, 136651220-136651224
1105SOX3X0.55480984345971341139585893-139586018, 139586029-139586107, 139586114-139586135, 139586145-139586191, 139586212-139586368, 139586381-139586395, 139586416-139586485, 139586498-139586533, 139586631-139586637, 139586846-139586865, 139586927-139586936, 139587212-139587219
1106FAM58AX0.95510204081633735152864467-152864480, 152864483-152864495, 152864516-152864521
1107SLC6A8X0.8595387840672681908152954030-152954291, 152959835-152959840
1108ABCD1X0.977211796247512238152991097-152991103, 153008473-153008486, 153008675-153008688, 153008705-153008711, 153008981-153008987, 153009149, 153009152
1109L1CAMX0.996555378908133774153136627-153136631, 153141271-153141278
1110MECP2X0.944555778223831497153296202-153296222, 153363061-153363122
1111OPN1LWX0.953424657534511095153409779-153409795, 153418521-153418544, 153420049-153420058
1112OPN1MWX0.8721461187211401095153448191-153448218, 153448278, 153453337-153453343, 153453446-153453453, 153453458-153453465, 153453474-153453495, 153455586, 153455590, 153455598, 153455651-153455676, 153457179-153457188, 153457286-153457309, 153458921-153458923
1113OPN1MWX0.8146118721462031095153485309-153485336, 153485396, 153490455-153490461, 153490564-153490571, 153490576-153490583, 153490592-153490613, 153492701-153492719, 153492768-153492810, 153494297-153494306, 153494404-153494427, 153496039-153496041, 153496057, 153496071-153496074, 153496100-153496109, 153496117-153496124, 153496195-153496201
1114FLNAX0.9843907351461247944153599253-153599288, 153599377-153599410, 153599418-153599424, 153599447-153599478, 153599582-153599588, 153599606-153599613
1115EMDX0.994771241834765153607893-153607896
1116GDI1X0.989583333333141344153665632-153665645
1117G6PDX0.99816849816831638153760603-153760605
1118IKBKGX0.957650273224621464153788642-153788687, 153788732-153788747
1119USP9YY0.99726134585321766814890082-14890095, 14890106-14890112
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4MYO1A-G662Ehet unknownDominant
pathogenic
Moderate clinical importance,
uncertain
Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.
2.5EDNRB-Y293Shifthet unknownComplex/Other
pathogenic
Moderate clinical importance,
uncertain
Reported as "EDNRB, 1-BP INS, 878T" in OMIM, this frameshift variant has been reported to cause increased susceptibility to Hirschsprung's disease (partial lack of nerves in the bowel, potentially leading to severe constipation and digestive issues). It may also be associated with Waardenburg syndrome type 4 in a recessive or incomplete-dominance manner.
2.5C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-E207Khet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A128Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SLC2A4-V383Ihet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
1.5MTHFR-A222Vhomozygous0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1.5COL7A1-P2847Shifthet unknownRecessive
pathogenic
High clinical importance,
uncertain
This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function.
1.5COL7A1-R2835Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25ABCA4-S2255Ihet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25ABCA4-G1961Ehet unknownRecessive
pathogenic
High clinical importance,
likely
This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.
1.25ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ALPK1-T458Ahomozygous0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ALPK1-H642Rhomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALPK1-S710Fhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
1ALPK1-M861Thomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TTN-S20650Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R13340Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T6951Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTR2A-H452Yhomozygous0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.489 (possibly damaging)
1VPS11-L73ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VPS11-K887Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BRCA2-T1915Mhet unknown0.012Unknown
protective
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1APOE-R176Chet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NR_027242-L114PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEK3-Q293ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GABRE-P437Lhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1GABRE-S102Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
1GLI3-R1537Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-G1336Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SRRM3-R579ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG1L2-L157ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BLMH-E381Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-I279MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-E201*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1CC2D2A-E229Delhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAMTSL3-H146Rhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-T1660Ihomozygous0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1CLNK-P31Lhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-T120Mhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-N71ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NM_001145710-Q302ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-T33ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2D6-C296Rhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP2D6-P34Shomozygous0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PCSK1-S690Thomozygous0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PPT1-M57Shifthet unknownUnknown
not reviewed
High clinical importance,
uncertain
Although there are no known reports for this variant, this is predicted to be very disruptive. Other disruptive mutations in this gene cause infantile Neuronal ceroid-lipofuscinosis in a recessive manner, this variant is predicted to have the same effect.
1AK300656-R11*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1EXD3-R653Chomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
1EXD3-E322Dhomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1EXD3-R220Qhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1EXD3-R20Qhet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX7-D182Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1VSIG4-G279Ehomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TOR1A-D216Hhet unknown0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIGR-A580Vhet unknown0.318Complex/Other
pathogenic
Low clinical importance,
likely
In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.
1PIGR-T555Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.75ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF39-A304Ehomozygous0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RNF39-S203Phomozygous0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-H-V92Lhet unknown0.135Unknown
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-E152Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-F153Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC63-T676Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests
0.5HLA-A-F33Shet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-F33Shet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-G80Rhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.5HLA-A-Q86Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-A-T88Shifthet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HLA-A-K168Qhomozygous0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-D185Ehomozygous0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-T187Rhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-I312Lhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-L318Fhet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-T323Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-T345Shet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-V358Mhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5HSP90AB1-R604Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5HLA-L-H17Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNXB-V3875Ihomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-S360Ghomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HLA-DQA1-L8Mhomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A210Thet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5CYP21A2-R103Khet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-S494Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF6-W719Rhomozygous0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.5NCRNA00243-I123Mhet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCRNA00243-P80Lhet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NCRNA00243-R77*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NCRNA00243-P38Lhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P1722Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CUL7-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCRIB-H1217Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5SCRIB-V674Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCRIB-P422Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5SHARPIN-S282Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-Q528Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-E506Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HR-T13Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N27Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IFNA10-G33Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5IFNA10-S31Thet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.5IFNA10-C20*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LINGO2-T59Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARRDC1-N287Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK131516-R31*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF24-T1077Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5RNF207-A95Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-A421Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5FKTN-R203Qhomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A4322Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BCLAF1-L461Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5BCLAF1-Y459Dhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K117Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-L8741Mhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhomozygous0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FLT4-T494Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A3-S400Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A3-R399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LRGUK-R528Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRSS1-K170Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-C171Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIP6-R111Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POR-A503Vhet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-M89Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PON1-L55Mhomozygous0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAT1-K4059Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S3554Ahet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-M2845Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT1-H1273Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Y1250Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAT1-R1064Ghet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5OXER1-T128Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V3964Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5018Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S3875Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-R3638Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-D1113Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARID4B-D293Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.262Complex/Other
protective
Low clinical importance,
uncertain
This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.
0.5EXO1-F483Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EXO1-R723Chomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5G6PC2-Y207Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5G6PC2-V219Lhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5G6PC2-S342Chet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CXCR1-R335Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A12-R473Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5AGT-M268Thomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5CCDC28B-R25Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KIAA2013-C400Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGEF19-R633Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FUCA1-Q286Rhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5SEPN1-C108Yhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhet unknown0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-R1729Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-V4433Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5TSEN15-G19Dhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TSEN15-Q59Hhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5SLAMF1-P333Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLAMF1-F11Lhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5DUSP27-E265Dhet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUSP27-D1067Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5DUSP27-T1124Nhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5DARS2-G338Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1614-L64Phomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-L801Fhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.047Unknown
benign
Low clinical importance,
likely
Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.
0.5AGXT-A295Thet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OSMR-G578Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5HEATR7B2-L1179Phet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-V496Ihomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R330Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
protective
Low clinical importance,
likely
The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MYO3A-R319Hhomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-G428Dhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-T689Ahet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.
0.5VCAN-K1516Rhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5KCNMB1-E65Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N6157Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO6A1-R646Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DMXL1-M1589Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CENPE-S1911Thet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CENPE-T1268Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPE-S851Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROBO1-P1188Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GLB1-S532Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A13-R449Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FLNB-D1157Nhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROBO2-D215Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LRRC31-L378Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CLDN16-R55Shifthomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5TLR1-S602Ihomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR6-T756Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC158-R134Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AGPAT9-R386Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5IDUA-R105Qhomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTT-I1091Mhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5RGS12-M277Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.073 (benign)
0.5RGS12-R633Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROZ-R295Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5LRRC50-K393Rhomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-A322Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SEPT1-G80Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEURL4-R1406Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5SPACA3-M182Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-R515Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XYLT2-T801Rhomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRTAP2-1-R59Chet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNRC6A-N185Khet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5TNRC6A-A592Thet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TNRC6A-P788Shet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TNRC6A-Q1112Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5NM_001080841-R42Chet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-V80Ahet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ACIN1-S643SHShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S643SHShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S467Phomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phet unknown0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-N20Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1447Thet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-P96Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCNDBP1-I277Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5STRC-R1521Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-*768Qhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PYGO1-R405Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-E689Khet unknown0.148Complex/Other
benign
Low clinical importance,
uncertain
This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect.
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGIF1-P292Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhomozygous0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5TPTE-L470Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R222Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5LPIN3-R61Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NLRP2-A1052Ehet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZSCAN5B-V208Ihet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZSCAN5B-S8Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ZNF772-M218Lhet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF772-C182Whet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF772-W41*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CBR3-V244Mhomozygous0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.5UBASH3A-S18Ghomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5UBA1-R447Hhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPARA-L162Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign)
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAIAP2L2-M411MTPMhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5BAIAP2L2-M411MTPMhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5BAIAP2L2-S406Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5LILRB1-A309Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5LAIR2-R76*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAIR2-H112Qhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TYK2-I684Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-V1183Mhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A1020Phet unknown0.186Unknown
benign
Low clinical importance,
likely
Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.
0.5WDR62-L850Shet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-S447Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PEX11G-L216Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PEX11G-C91Whet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DLL3-L218Phomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-P4788Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-V4469Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5ELSPBP1-G61Shet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-R73Chet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-P185Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIX5-P635Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD3EAP-Q504Khomozygous0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACSM5-P352Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5LARP4-F351Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMP27-D447Nhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5MMP27-W304Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5MMP27-E266Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP27-M30Vhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MMP27-T24Mhet unknown0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDC42BPG-Q1135Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CDC42BPG-A1048Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MS4A5-G51Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK-V1274Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DYNC2H1-Q304Lhet unknown0.005Unknown
benign
Low clinical importance,
uncertain
Presumed benign.
0.5DYNC2H1-K1413Rhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPAT-L1036Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5NPAT-N999Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NPAT-V575Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYZ-T88Nhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5KRT6C-V481Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBA1A-W137Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1A-L146Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CAPRIN2-M519Vhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATM-S99Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACSM4-Q357*het unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MADD-R765Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL17A1-D1370Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TACC2-R960Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1215Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TACC2-P1492Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-E1916Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-G2730Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FARP1-H644Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGGT2-H1381Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-S328Ahet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTUS2-T367Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HPD-V340Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPTY2D1-R447Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5SLC6A5-G102Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5BDNF-V148Mhet unknown0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICALCL-V70Ihet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-A305Thomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-S313Ghet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5MICALCL-T471Phet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.331 (possibly damaging)
0.5MICALCL-R671Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-I2101Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-R832Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-G216Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5MKI67-N104Shet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5AK160367-D257Ehet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V380Shifthet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK160367-V380Shifthet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTSD-A58Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADM-S50Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.375DSG2-T745Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25CR623477-Q168QRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-Q139Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CR623477-V134Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CR623477-V134Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CR623477-A133Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CR623477-Y67Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PTCH1-P1315Lhet unknown0.401Unknown
benign
Low clinical importance,
uncertain
Common polymorphism, presumed benign.
0.25PTCH1-T1195Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-Y1512Chet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25SLC18A1-I136Thet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC18A1-Q10Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC18A1-T4Phet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC3A1-Y461Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DMPK-L423Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MS4A2-E237Ghet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.25ADAM3A-G372ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-N302Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-R215Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ADAM3A-F185Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RP1-N985Yhet unknown0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25MICA-W37Ghet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25PLCE1-R548Lhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDH23-R3Chet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R1434Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R1801Qhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGT5-E466Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GGT5-K330Rhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGT5-A42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FANCM-S175Fhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-N46Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-E38Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25UMODL1-M559Thomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25UMODL1-S689Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UMODL1-R691GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UMODL1-T741Phomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UMODL1-I767Thomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UMODL1-T826Phet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UMODL1-V978Ihet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UMODL1-D1336Nhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLG-E2976Dhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-F-K56EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-V57GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-G62Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-D123Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-M126Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-S128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL11A1-S1547Phet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C1orf141-V189IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf141-N109Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-I574Thet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.647Unknown
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-L5186Mhomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25C17orf55-V50Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf55-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HILS1-G229Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HILS1-Y148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AKAP9-K386Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-M409Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25VWDE-F1485Chomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-K1273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWDE-Q1256Khomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-C1050Yhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-T1032Mhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-G1009Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-C890Fhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-E869Khet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-Y804Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S607Fhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-R385*het unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25VWDE-G340Dhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-F292Ihet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S142Fhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-R39Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL2A1-G1405Shet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-M717Ihet unknown0.016Unknown
benign
Low clinical importance,
likely
Rare polymorphism, not considered pathogenic.
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-R294Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25SLC2A9-G25Rhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25SLCO1B3-G256Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.25MPDU1-A229Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25DOK7-G461Dhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-V73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AOX1-N1135Shet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-N1077Shet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC2-I776Vhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-R568Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V0A4-V2Ahomozygous0.680Unknown
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-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MEP1B-W285*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MEP1B-P695Lhomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A3-L141Phet unknown0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MBL2-R52Chet unknown0.035Recessive
pathogenic
Low clinical importance,
likely
This 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).
0H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0CEP290-D983Shifthet unknownRecessive
pathogenic
High clinical importance,
uncertain
Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber's Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect.
0SLC5A2-N654Shet unknownRecessive
pathogenic
Low clinical importance,
uncertain
Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.
0MTRR-I49Mhet unknown0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,768,082,398 bases (96.9% of callable positions, 89.9% of total positions)

Coding region coverage: 31,756,872 bases (95.4% of all genes, 96.6% of genes with clinical testing available)

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

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"GENE" or "GENE A123C":

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