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
2CEP290-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
3COL7A1-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
4PPT1-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
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
13TP53-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
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
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
20TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
21IL7R-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
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
24NOTCH3-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
25ADA-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
26FANCA-M717ILowLikelyLikely benign

Unknown, Heterozygous
0.0216583Rare polymorphism, not considered pathogenic.1
27FANCI-P55LLowLikelyLikely benign

Unknown, Heterozygous
0.0507529Probably benign.1
28PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
29DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
30VCAN-T689ALowUncertainUncertain benign

Unknown, Heterozygous
0.00644137Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.1
31PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
32MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
33ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
34RP1-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
35TCIRG1-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
36NKX2-5-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
37AARS-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
1AGRN10.7737047898338213896138955553-955753, 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
2GABRD10.941869021339227913591950863-1950930, 1957033-1957040, 1961134, 1961137, 1961486
3PEX1010.856269113149851419812337205-2337208, 2337923-2337944, 2337951-2337959, 2338282, 2338322, 2339988-2339989, 2339996-2340004, 2340205, 2340212-2340215, 2343830-2343833, 2343841-2343886, 2343894-2343907, 2343918-2343941
4NPHP410.9764073814529310142815925300, 5925322-5925328, 5935061-5935067, 5935079-5935080, 5935084-5935085, 5935091-5935160, 5947484-5947492, 5969232-5969233, 6008248
5ESPN10.6362573099415293325656485016-6485180, 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
6PLEKHG510.8877391031671435831896528255-6528257, 6530367, 6530585, 6530851-6530854, 6530935-6530944, 6531571-6531609, 6532651-6532669, 6533405-6533416, 6534080-6534173, 6534179-6534185, 6534198-6534224, 6534511-6534647, 6557380-6557383
7KIF1B10.9960474308300421531310356997-10357003, 10357013-10357026
8PEX1410.967372134038837113410690008-10690044
9TARDBP10.994377510040167124511082356-11082362
10MASP210.997088791848626206111094888-11094893
11MTHFR10.9928970065956414197111853987, 11854871-11854875, 11861371-11861372, 11863114-11863119
12PLOD110.975732600732653218411994837-11994847, 11994858-11994889, 12010469-12010470, 12018617, 12023651, 12023656, 12023660-12023664
13CLCNKA10.9549418604651293206416353251-16353254, 16355301-16355331, 16355339-16355340, 16356479, 16357061, 16357064, 16358212-16358225, 16358268-16358274, 16358720-16358741, 16358771-16358780
14CLCNKB10.9941860465116312206416374486, 16374515-16374518, 16383399-16383405
15ATP13A210.95653401072537154354317312739-17312746, 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
16ALDH4A110.988770685579219169219202920-19202922, 19204003, 19204028-19204029, 19204034-19204035, 19228997-19228998, 19229002-19229003, 19229007-19229013
17PINK110.77262313860252397174620960042-20960428, 20975061-20975064, 20975075-20975080
18ALPL10.9923809523809512157521900284, 21903900-21903906, 21904076-21904077, 21904084, 21904087
19HSPG210.986414693381911791317622149847-22149852, 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
20WNT410.88352272727273123105622446688, 22446859-22446868, 22447955-22447989, 22469339-22469415
21GALE10.997134670487113104724122659-24122660, 24122755
22FUCA110.9850107066381221140124194487, 24194491-24194494, 24194741-24194756
23LDLRAP110.8867313915857610592725870190-25870277, 25890186, 25893442-25893445, 25893466-25893476, 25893483
24SEPN110.88908872901679185166826126722-26126904, 26138360-26138361
25HPCA10.929553264604814158233359387-33359406, 33359418-33359438
26GJB310.99753997539975281335251054-35251055
27COL9A210.9758454106280250207040768406-40768408, 40769493-40769500, 40769504, 40769508, 40781295-40781311, 40781317-40781323, 40782857-40782869
28KCNQ410.86111111111111290208841249766-41249908, 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
29CLDN1910.937777777777784267543201549-43201590
30LEPRE110.92039800995025176221143212431, 43232180-43232214, 43232252-43232280, 43232387, 43232395-43232401, 43232479-43232539, 43232586-43232606, 43232622-43232642
31SLC2A110.9932386747802610147943393367-43393368, 43424315-43424322
32MPL10.9696016771488558190843805714-43805715, 43814936-43814957, 43814979-43815011, 43818356
33MUTYH10.9923518164435912156945797119, 45797124, 45797135-45797140, 45798095-45798096, 45798456, 45798460
34CPT210.9944360141628711197753662617-53662620, 53678978-53678984
35DHCR2410.85041908446164232155155340771, 55352562-55352792
36PCSK910.92977392977393146207955505529, 55505538-55505565, 55505590, 55518403-55518409, 55521688-55521735, 55521756-55521766, 55521775, 55524184-55524192, 55524254-55524281, 55529180, 55529206-55529216
37GLMN10.999439775910361178592733535
38RPL510.987695749440721189493307396, 93307405-93307414
39ABCA410.9967751392553522682294497392-94497410, 94497415-94497417
40DPYD10.998050682261216307897848000-97848005
41COL11A110.979475902510541125457103363681-103363702, 103364222-103364241, 103364272-103364290, 103364315-103364328, 103364522, 103364527-103364535, 103364543-103364550, 103435797-103435802, 103440420, 103471827-103471829, 103471833-103471837, 103471854-103471857
42GSTM110.989345509893467657110235885-110235891
43AMPD110.9991087344028522244115236067-115236068
44NGF10.994490358126724726115828707-115828710
45PHGDH10.9993757802746611602120278051
46NOTCH210.986245954692561027416120458206-120458209, 120539665-120539690, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120572609-120572610, 120611957-120611967, 120612003-120612010
47HFE210.9976580796252931281145415575-145415577
48FLG10.998358772361732012186152276686, 152277524, 152277527, 152279403-152279409, 152280081-152280083, 152282291-152282292, 152283975, 152286125-152286128
49CHRNB210.94632206759443811509154540521-154540534, 154540556-154540565, 154540571-154540583, 154544089, 154544247-154544265, 154544268, 154544271, 154544381-154544390, 154544405, 154544408-154544418
50PKLR10.9982608695652231725155269991-155269993
51LMNA10.992945326278664567156105052, 156105759-156105761
52LMNA10.98546365914787291995156084726, 156084730-156084731, 156084739, 156084743-156084756, 156100452, 156105052, 156105759-156105761, 156108297, 156108304-156108307, 156108338
53SEMA4A10.97550306211724562286156124430-156124438, 156130806, 156131137-156131138, 156131209-156131233, 156131243, 156131249-156131252, 156146427-156146430, 156146559-156146568
54NTRK110.953575909661231112391156830727-156830809, 156830818-156830831, 156837945-156837950, 156843446, 156843451-156843456, 156843588
55NDUFS210.998563218390821392161172215, 161172218
56MPZ10.9266409266409357777161275905-161275913, 161275950, 161276185-161276186, 161279635, 161279651-161279675, 161279685-161279693, 161279699-161279704, 161279710-161279713
57SLC19A210.9953145917001371494169454935-169454941
58F510.99191011235955546675169509580, 169510337-169510343, 169510472-169510478, 169510568-169510606
59FMO310.9987492182614121599171077351-171077352
60DARS210.998452012383931938173819513, 173819516, 173819521
61NPHS210.93315972222222771152179544816, 179544864-179544904, 179544941-179544949, 179544957-179544973, 179544976-179544977, 179544990-179544996
62LHX410.99062233589088111173180199672-180199682
63RNASEL10.98921832884097242226182555114-182555115, 182555271-182555291, 182555297
64LAMC210.99609156895589143582183201437-183201450
65HMCN110.99994085639934116908185897744
66CFH10.98538961038961543696196654199-196654202, 196658717-196658740, 196659193-196659211, 196682989-196682990, 196706611-196706614, 196715024
67CFHR110.18630412890232808993196794607-196794801, 196795959-196796135, 196797200-196797319, 196797354, 196799630-196799812, 196800927-196800948, 196800982-196801057, 196801096-196801129
68CFHR510.99122807017544151710196963255-196963269
69ASPM10.99913743530765910434197063309-197063310, 197115496-197115502
70CACNA1S10.9928850942725405622201009382-201009397, 201022698-201022715, 201038651-201038654, 201081387, 201081390
71LAMB310.9982949701619863519209790796, 209790799, 209800765, 209800769, 209800890-209800891
72IRF610.998575498575521404209961862, 209969820
73USH2A10.999231212761871215609215823937, 215823943, 215916553-215916558, 216496932-216496935
74PSEN210.998515219005221347227071480-227071481
75ADCK310.99485596707819101944227152804-227152810, 227153379, 227153431, 227171873
76GJC210.1598484848484811091320228345460-228345463, 228345484-228345506, 228345523-228345696, 228345714-228345878, 228345891-228345898, 228345909-228345956, 228345962-228346194, 228346208-228346269, 228346281-228346551, 228346573-228346693
77ACTA110.858024691358021611134229567492-229567496, 229567793-229567797, 229567849-229567881, 229567892-229567932, 229568017-229568027, 229568093-229568125, 229568162-229568170, 229568332-229568346, 229568455-229568463
78AGT10.98765432098765181458230845781-230845784, 230845788, 230845988-230846000
79LYST10.99693143959323511406235896819-235896821, 235896970, 235897165-235897173, 235944279, 235950500-235950513, 235969206-235969212
80ACTN210.945251396648041472685236849974-236850099, 236907981-236907982, 236917289, 236917302-236917303, 236917348-236917354, 236924415-236924423
81MTR10.9997367035281713798237013802
82RYR210.9921497584541111714904237205838-237205845, 237205862-237205869, 237656279-237656284, 237656291-237656311, 237666687, 237796906, 237821244-237821285, 237821293-237821322
83FH10.9941291585127291533241661136-241661138, 241661156, 241663849, 241672049-241672052
84NLRP310.9926068788171233111247582289-247582304, 247587704, 247588036-247588037, 247588043, 247588053-247588055
85NET1100.99274148520381317915454669-5454675, 5454679-5454684
86GATA3100.969288389513114113358097641-8097647, 8097732-8097763, 8100745, 8100748
87OPTN100.999423298731261173413174098
88PHYH100.9557522123893845101713330452, 13330455, 13341974-13341995, 13342022-13342042
89DCLRE1C100.9995189995191207914970144
90CUBN100.99558498896247481087216882332, 16960700, 16960709, 16960712, 17026107-17026113, 17085866-17085888, 17085925-17085938
91PTF1A100.2786220871327371298723481460-23482164, 23482170-23482176
92PDSS1100.90464743589744119124826986641-26986710, 26986716-26986764
93RET100.96502242152466117334543572707-43572779, 43600564-43600603, 43606878, 43606883-43606884, 43615084
94ERCC6100.9957608210620319448250681017, 50740816-50740833
95CHAT100.89141076991544244224750822236-50822246, 50822272-50822504
96PCDH15100.9964340295466121588955587192-55587195, 55587205, 55587209, 55626439, 56128978-56128991
97EGR2100.9336128581411695143164573080, 64573102, 64573117, 64573120, 64573325, 64573329, 64573334-64573344, 64573467-64573504, 64573513-64573520, 64573529-64573535, 64573558-64573582
98NODAL100.997126436781613104472201328-72201330
99PRF1100.9856115107913724166872358258-72358263, 72358338-72358344, 72358474-72358484
100PCBD1100.99047619047619331572648288-72648290
101CDH23100.984387430389821571005673375319-73375327, 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
102PSAP100.998730158730162157573587858, 73594176
103VCL100.9503671071953169340575757968-75757996, 75758007-75758113, 75849029, 75854071-75854099, 75854115-75854116, 75854121
104LDB3100.95192307692308105218488466308-88466313, 88476084-88476093, 88476162-88476196, 88476229-88476234, 88476241-88476259, 88476264-88476270, 88476282-88476302, 88476360
105BMPR1A100.995622263914957159988683143-88683149
106GLUD1100.8479427549195255167788854163-88854170, 88854174-88854175, 88854178, 88854209-88854219, 88854239-88854262, 88854294-88854338, 88854348-88854390, 88854399-88854427, 88854435-88854526
107LIPA100.9916666666666710120090974618-90974620, 91007354-91007360
108ANKRD1100.99791666666667296092675628-92675629
109PDE6C100.999611951882031257795372703
110ZFYVE27100.995145631067966123699512911-99512913, 99518996-99518998
111HPS1100.98812915479582252106100177366-100177384, 100177950, 100183561-100183563, 100186994, 100190946
112COX15100.9943227899432371233101491751-101491757
113PAX2100.97998460354119261299102587323-102587329, 102587403-102587421
114C10orf2100.9995133819951312055102748068
115FBXW4100.93462469733656811239103371414-103371415, 103436141-103436150, 103454185, 103454215-103454246, 103454310-103454323, 103454329-103454350
116HPS6100.715206185567016632328103825232-103825526, 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
117SUFU100.893470790378011551455104263918-104264047, 104264055-104264079
118CYP17A1100.9993451211525911527104590634
119COL17A1100.9988874054294654494105793823-105793826, 105798246
120SHOC2100.9994282447112611749112769073
121HABP2100.99405822935235101683115341846-115341853, 115341857, 115341860
122EMX2100.82608695652174132759119302790-119302806, 119302833-119302865, 119302876-119302893, 119302926-119302960, 119302993-119303009, 119303015-119303018, 119303109-119303116
123BAG3100.895254629629631811728121411188-121411367, 121436212
124HTRA1100.729729729729733901443124221169-124221517, 124221528-124221532, 124221558-124221563, 124221605-124221627, 124266243-124266249
125ACADSB100.99076212471132121299124768576-124768587
126UROS100.998746867167921798127477544
127HRAS110.9736842105263215570534212-534226
128TALDO1110.91715976331361841014747482-747495, 747520-747563, 747575-747578, 763344-763347, 763396, 763404-763405, 763430-763440, 763448-763449, 763512-763513
129SLC25A22110.81995884773663175972791929-791930, 792603-792694, 792712-792724, 792870-792909, 792932-792934, 794784-794800, 794806-794809, 794884-794887
130PNPLA2110.784818481848183261515819719-819905, 823586-823587, 823728-823759, 823787-823794, 823802, 824025-824038, 824095-824120, 824375-824420, 824780-824789
131CTSD110.8506860371267218512391774747, 1775033-1775034, 1775098-1775106, 1775224-1775225, 1775234-1775242, 1775252-1775297, 1775331-1775345, 1775351-1775368, 1778608-1778614, 1780202-1780208, 1782582, 1785022-1785089
132TNNI2110.85063752276867825491861463-1861468, 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
133TNNT3110.97812097812098177771946331-1946346, 1955224
134H19110.913165266106449310712017784, 2017792-2017793, 2017799-2017805, 2017816-2017832, 2017864-2017876, 2017916-2017921, 2018059-2018100, 2018123, 2018297-2018299, 2018440
135IGF2110.748241912798871797112154333-2154341, 2154349-2154353, 2154365, 2154378-2154379, 2161365-2161526
136TH110.8939682539682516715752187710-2187715, 2187753-2187761, 2187771-2187779, 2187863-2187864, 2187960-2187998, 2188120-2188127, 2191013-2191038, 2191926-2191962, 2191970-2192000
137KCNQ1110.8237321516494335820312466329-2466580, 2466590-2466659, 2466669-2466684, 2466697-2466714, 2608800, 2608804
138CDKN1C110.227129337539437359512905275-2905279, 2905283, 2905289-2905290, 2905294, 2905310-2905312, 2905900-2906480, 2906487-2906528, 2906540-2906542, 2906556-2906597, 2906611-2906641, 2906684-2906690, 2906703-2906719
139SMPD1110.960443037974687518966411934-6411939, 6411955-6411965, 6412659-6412661, 6412742-6412768, 6412780-6412784, 6412869-6412871, 6412977, 6412982-6412986, 6413003-6413012, 6413096, 6413222-6413224
140TPP1110.99822695035461316926637678, 6638369, 6638547
141SBF2110.989369369369375955509838421-9838423, 9838519, 10315562-10315616
142KCNJ11110.999147485080991117317408527
143ABCC8110.9932574799831432474617498284-17498295, 17498297, 17498305-17498323
144USH1C110.92666666666667198270017531089-17531226, 17531236-17531242, 17531288-17531340
145LDHA110.998998998999199918424494
146ANO5110.9876002917578434274222276961-22276964, 22276987-22277016
147FANCF110.9564444444444449112522646833-22646857, 22647245-22647268
148PAX6110.992907801418449126931811482-31811487, 31824300-31824302
149WT1110.74967824967825389155432456317, 32456321-32456326, 32456330, 32456335-32456344, 32456437-32456440, 32456479-32456482, 32456498-32456538, 32456544-32456560, 32456587-32456891
150ALX4110.89563106796117129123644331147-44331184, 44331192-44331232, 44331254-44331274, 44331287-44331310, 44331319-44331321, 44331327-44331328
151SLC35C1110.86837121212121139105645827436-45827441, 45827477-45827478, 45827630-45827674, 45827688-45827706, 45827789-45827848, 45827854-45827860
152PEX16110.9538904899135448104145937372-45937387, 45939270-45939301
153DDB2110.997663551401873128447236783-47236785
154MYBPC3110.997647058823539382547371434-47371437, 47371463-47371467
155SLC39A13110.9731182795698930111647431726-47431731, 47435022-47435024, 47435029-47435030, 47435035-47435053
156RAPSN110.9612590799031548123947460397-47460400, 47460405-47460406, 47460416-47460420, 47463217-47463224, 47463375-47463382, 47463405-47463413, 47463418, 47463432-47463438, 47469390-47469393
157SERPING1110.9660678642714651150357365744-57365794
158GIF110.996810207336524125459599162-59599163, 59599166-59599167
159BEST1110.980659840728134175861719310-61719311, 61723229, 61723271, 61723275, 61723343, 61723359-61723361, 61723390-61723397, 61725741-61725757
160ROM1110.9450757575757658105662380758-62380766, 62380771-62380782, 62380828-62380840, 62381090-62381112, 62381223
161BSCL2110.998560115190782138962457946-62457947
162SLC22A12110.9422382671480196166264359165-64359177, 64359306-64359314, 64360329-64360332, 64367165, 64367168, 64367245-64367311, 64367322
163PYGM110.9956504547251911252964514786, 64521035-64521043, 64521124
164MEN1110.9675324675324760184864572248-64572256, 64572567-64572573, 64577170, 64577174, 64577538-64577579
165RNASEH2C110.919191919191924049565488103-65488113, 65488118-65488123, 65488128, 65488164-65488168, 65488179-65488183, 65488192-65488194, 65488204-65488212
166EFEMP2110.999249249249251133265635434
167CST6110.913333333333333945065779584, 65779597, 65779602-65779604, 65780297-65780307, 65780347-65780354, 65780407-65780421
168BBS1110.994949494949499178266281971-66281975, 66299433-66299436
169SPTBN2110.9934476509131547717366453472-66453473, 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
170PC110.9844500989539255353766618344-66618345, 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
171AIP110.938569989929516199367257527-67257535, 67257541-67257548, 67257787-67257826, 67257928, 67258293, 67258297-67258298
172NDUFV1110.9849462365591421139567379909-67379929
173NDUFS8110.944707740916273563367799795-67799799, 67803749-67803755, 67803929-67803945, 67803954-67803959
174TCIRG1110.94464500601685138249367810261-67810286, 67810932-67810959, 67811038-67811042, 67811320, 67811325-67811326, 67811334-67811358, 67811789, 67816555-67816559, 67816565, 67816570-67816575, 67816581, 67816673, 67817171-67817206
175LRP5110.96637788778878163484868080183-68080273, 68131215, 68131219, 68133051-68133067, 68153793-68153807, 68154166, 68154171, 68204447, 68206053-68206057, 68206096, 68207298-68207301, 68207367-68207384, 68216334-68216340
176CPT1A110.9952627045650311232268564325-68564328, 68571482-68571488
177IGHMBP2110.9912810194500326298268671466-68671481, 68704383-68704386, 68704530-68704535
178DHCR7110.9439775910364180142871146452-71146461, 71146484-71146503, 71146508, 71146517-71146520, 71146566-71146572, 71146574-71146577, 71146581-71146584, 71146594-71146601, 71146714-71146722, 71146830-71146842
179MYO7A110.992328519855651664876874032-76874034, 76890868-76890905, 76893193-76893200, 76914107, 76914187
180FZD4110.9888475836431218161486666046-86666048, 86666067-86666071, 86666089-86666090, 86666095-86666097, 86666099-86666103
181MTMR2110.9901656314699819193295591780, 95657095-95657108, 95657111-95657114
182TRPC6110.9964234620887102796101454166-101454175
183DYNC2H1110.990343762070312512945102991483-102991486, 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
184ACAT1110.9696261682243391284107992343-107992381
185ATM110.99520226801875449171108098600-108098604, 108114680, 108126999-108127023, 108188185-108188187, 108196207-108196215, 108202244
186RDX110.9982876712328831752110126053-110126055
187ALG9110.95642701525054801836111742106-111742130, 111742136-111742145, 111742147-111742178, 111742187-111742199
188DLAT110.9994855967078211944111909982
189APOA1110.9738805970149321804116706732-116706739, 116706791, 116706795-116706806
190SCN4B110.998544395924311687118023355
191HMBS110.9972375690607731086118962228-118962230
192DPAGT1110.98451507742461191227118972308, 118972312, 118972320-118972336
193ROBO3110.967075222302331374161124735478-124735481, 124738863-124738908, 124738920-124738945, 124745976-124745980, 124746177-124746181, 124746187-124746193, 124746251-124746252, 124746265-124746269, 124746291, 124746298-124746302, 124746306-124746308, 124746313-124746314, 124748613, 124750422-124750446
194WNK1120.999233716475111305978105
195WNK1120.956917051335853087149862732-862751, 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
196CACNA2D4120.983596953719985634141902905, 1906624-1906652, 1909566, 1994187-1994193, 2027522-2027539
197CACNA1C120.994360615759793765612787013-2787015, 2788728, 2797712-2797720, 2797843-2797848, 2797889-2797896, 2800350-2800359
198VWF120.9819947879649415284426058303-6058309, 6125328-6125344, 6131926-6131932, 6131970-6131982, 6132003-6132033, 6166111-6166140, 6166165-6166181, 6166219-6166238, 6172172-6172177, 6172185, 6172190-6172192
199TNFRSF1A120.942982456140357813686438485-6438524, 6438602-6438616, 6438767-6438788, 6439060
200SCNN1A120.97027892089626521876457373, 6457392-6457396, 6457407, 6472616-6472622, 6472688-6472710, 6472721-6472725, 6472750-6472772
201TPI1120.94533333333333417506976731-6976746, 6976787-6976789, 6976814-6976835
202ATN1120.9238734956619127235737045900-7045933, 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
203PEX5120.9957805907173818967343034-7343040, 7361234
204AICDA120.9865996649916285978756880-8756887
205CDKN1B120.99832495812395159712871075
206GYS2120.997632575757585211221712086-21712089, 21712092
207ABCC9120.999354838709683465021981904, 21998622, 22063817
208KRAS120.99473684210526357025368402-25368404
209DNM1L120.9918588873812818221132832342-32832347, 32832388-32832399
210PKP2120.9709626093874373251433049567-33049590, 33049602-33049606, 33049610-33049613, 33049626-33049665
211KIF21A120.998997192137995498639726796, 39760289-39760292
212LRRK2120.9984177215189912758440687387, 40753214-40753221, 40761494-40761496
213VDR120.969626168224339128448238706-48238710, 48238719, 48251357-48251389
214COL2A1120.97267025089606122446448369786, 48373315-48373327, 48376329-48376366, 48377497-48377519, 48377872-48377876, 48380224, 48398052-48398092
215MLL2120.955037919826657471661449420426-49420432, 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
216DHH120.82283795130143211119149483646-49483685, 49483696-49483725, 49483736-49483773, 49483836-49483864, 49483876-49483880, 49483898-49483908, 49483953-49484000, 49484128-49484130, 49484221, 49484963, 49484966, 49488116-49488119
217TUBA1A120.98464912280702745649522308-49522314
218AQP2120.99019607843137881650349356-50349363
219ACVRL1120.996693121693125151252307386-52307387, 52312883-52312884, 52312890
220KRT81120.9552042160737868151852680207-52680226, 52684021-52684029, 52685061-52685065, 52685164-52685196, 52685213
221KRT86120.9685147159479846146152695735-52695743, 52695763-52695776, 52695783-52695785, 52695880-52695882, 52696925-52696934, 52699545-52699551
222KRT83120.980431848852929148252714920-52714925, 52715018-52715040
223KRT6B120.9528023598820180169552840976, 52841179, 52841338-52841344, 52841659-52841665, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845668, 52845713-52845719, 52845797-52845829
224KRT6C120.93097345132743117169552865915-52865928, 52866021-52866041, 52866052-52866054, 52867101-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867345, 52867457-52867488
225KRT6A120.9828908554572329169552881702, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886778
226KRT5120.94359842075578100177352908771-52908780, 52908792-52908795, 52908806-52908854, 52908866-52908882, 52908915-52908927, 52908936, 52908942-52908947
227KRT2120.997916666666674192053045840-53045843
228KRT1120.996382428940577193553070152-53070155, 53070159-53070160, 53070175
229KRT4120.9927170868347313178553201525-53201532, 53201542-53201545, 53201554
230ITGA7120.9950379451255117342656081779-56081783, 56086700-56086703, 56088567-56088573, 56090125
231RDH5120.97910135841172095756115157-56115160, 56115585-56115593, 56115600-56115605, 56117719
232KIF5A120.9803162310422761309957944057-57944106, 57944160-57944170
233CYP27B1120.994106090373289152758159806-58159807, 58159811, 58159889-58159894
234TSFM120.967280163599183297858176598-58176629
235GNS120.974683544303842165965141666-65141672, 65141676, 65152904-65152928, 65152935-65152938, 65152963, 65153019-65153022
236LEMD3120.94773391812865143273665563388-65563391, 65563611-65563641, 65563739-65563763, 65563787-65563814, 65563838-65563844, 65563857-65563904
237BBS10120.999539594843461217276742057
238CEP290120.9904569892473171744088472947-88472961, 88472975-88472985, 88472996-88472997, 88505475-88505477, 88505602-88505604, 88519023-88519024, 88519065-88519066, 88519134-88519140, 88519144-88519146, 88522783-88522804, 88532968
239HAL120.9873353596757925197496379695, 96389648-96389671
240TMPO120.9625899280575578208598909793-98909831, 98909851-98909854, 98909882-98909916
241SLC17A8120.99322033898305121770100774562-100774566, 100774579-100774585
242GNPTAB120.99602227525855153771102224337-102224351
243IGF1120.998299319727891588102874144
244UNG120.9702760084925728942109535485-109535500, 109535545-109535548, 109535554-109535561
245MMAB120.9787516600265616753109998854-109998862, 110011229-110011235
246MVK120.9966414777497941191110034235, 110034238-110034240
247TRPV4120.9965596330275292616110230596, 110236711-110236717, 110238442
248ATP2A2120.98178331735379573129110719605, 110719608-110719611, 110719617-110719624, 110719633-110719656, 110719662-110719675, 110778526-110778531
249MYL2120.998003992015971501111348888
250ATXN2120.824200913242016933942111895064-111895069, 111908484, 112036588-112037272, 112037318
251PTPN11120.99214365881033141782112856916-112856929
252TBX5120.9948619139370681557114793792, 114793797-114793801, 114841682-114841683
253TBX3120.916666666666671862232115110043-115110047, 115111976-115112080, 115112102-115112107, 115112118-115112124, 115112195-115112228, 115112245, 115112257, 115112267-115112271, 115112326-115112329, 115112395-115112398, 115112401, 115112405-115112408, 115120850-115120858
254ACADS120.9983857949959621239121175788, 121176676
255HNF1A120.97257383966245521896121416591-121416592, 121416633, 121416699, 121434185-121434188, 121434349-121434373, 121435344, 121435358-121435361, 121435365-121435371, 121437409-121437415
256EIF2B1120.998910675381261918124111036
257ATP6V0A2120.9976662777129562571124197128-124197129, 124197149-124197150, 124242474-124242475
258PUS1120.894859813084111351284132414268-132414300, 132414306-132414319, 132414334-132414341, 132414452-132414481, 132414495-132414533, 132414617-132414621, 132425975-132425979, 132426089
259SACS130.989082969432311501374023908084, 23949260-23949408
260PDX1130.7781690140845118985228494287-28494321, 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
261B3GALTL130.9532398129592570149731774222-31774291
262BRCA2130.99610022423711401025732903629, 32929387-32929425
263SPG20130.998500749625193200136909449, 36909452, 36909457
264FREM2130.9895899053627899951039261564-39261592, 39261613, 39261681, 39261688, 39261707-39261711, 39261715, 39261793, 39261797-39261804, 39261836-39261842, 39261848-39261850, 39261911-39261935, 39261949-39261958, 39262062, 39450257, 39450266, 39450270-39450273
265TNFSF11130.98113207547171895443148452-43148456, 43148492-43148503, 43148508
266SUCLA2130.993534482758629139248528398-48528401, 48575343-48575347
267RB1130.9669895945461192278748878082-48878088, 48878102-48878138, 48878147-48878182, 49030402, 49051515-49051525
268RNASEH2B130.989350372736951093951484213-51484222
269ATP7B130.997953615279679439852508956, 52508964-52508969, 52518251-52518252
270CLN5130.9901960784313712122477566336, 77566339, 77566348-77566350, 77566358-77566364
271EDNRB130.999247554552291132978475263
272SLITRK1130.9885222381635624209184453780-84453802, 84454039
273ZIC2130.414008755472179371599100634319-100634801, 100634825, 100634831-100634833, 100634862-100634902, 100634921-100634945, 100635001-100635040, 100635052-100635098, 100637324-100637328, 100637577-100637582, 100637587, 100637622-100637666, 100637672-100637911
274PCCA130.98491083676269332187100741439-100741471
275ERCC5130.999764095305514239103519038
276COL4A1130.98463073852295775010110804842-110804843, 110814611-110814612, 110814718, 110821993-110821994, 110864259-110864269, 110959316-110959374
277F7130.94831460674157691335113765022-113765025, 113765038-113765061, 113765068-113765092, 113765130-113765133, 113770027, 113770031-113770033, 113772961-113772967, 113772971
278F10130.96591683708248501467113777175-113777224
279GRK1130.97635933806147401692114321945, 114322121-114322122, 114322134-114322141, 114325884-114325885, 114325888, 114325947, 114325951-114325954, 114325960-114325970, 114426074-114426081, 114426088-114426089
280TEP1140.9909944190766171788420841508-20841531, 20850445-20850486, 20851418-20851419, 20851436, 20851783, 20853249
281RPGRIP1140.9997409997411386121793021
282SLC7A7140.9908854166666714153623282109-23282122
283PABPN1140.6188925081433235192123790679-23791029
284MYH6140.999312714776634582023855263, 23858147, 23863444-23863445
285MYH7140.9946625344352631580823887511-23887515, 23894050-23894052, 23894057-23894067, 23894071, 23894223-23894233
286NRL140.6806722689075622871424550454-24550471, 24550536-24550724, 24550750-24550758, 24550763-24550774
287PCK2140.998959958398342192324563641, 24568259
288TINF2140.995575221238946135624711497-24711502
289FOXG1140.66598639455782491147029236486-29236969, 29237060, 29237156, 29237164-29237167, 29237202
290COCH140.999395039322441165331355496
291CFL2140.9940119760479350135183744-35183746
292NKX2-1140.64179104477612432120636986510-36986518, 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
293PAX9140.99902534113061102637135749
294FANCM140.9978851472262913614745605373-45605377, 45623992, 45624000, 45654427, 45654449-45654453
295MGAT2140.9895833333333314134450088119-50088127, 50088132, 50088143-50088146
296C14orf104140.76014319809069603251450100595-50100607, 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
297L2HGDH140.994252873563228139250778813-50778820
298PYGL140.9854559748427737254451410939-51410958, 51411105-51411121
299GCH1140.7702523240371817375355326399-55326403, 55326417, 55326420, 55369085-55369090, 55369096-55369102, 55369127-55369137, 55369207-55369300, 55369334-55369381
300SIX6140.941970310391364374160976243-60976249, 60976376, 60977828-60977862
301SIX1140.97192982456142485561115428-61115431, 61115437-61115438, 61115442, 61115448, 61115451, 61115503-61115507, 61115565, 61115574, 61115583, 61115591-61115597
302SYNE2140.99835939007914342072464457771-64457777, 64483273-64483274, 64522809, 64669605-64669606, 64676759, 64692109-64692129
303ZFYVE26140.9934383202099750762068215249-68215252, 68229069-68229074, 68233097, 68242687-68242688, 68244316, 68274116-68274127, 68274210-68274229, 68274239-68274241, 68274378
304VSX2140.954880294659349108674706420-74706432, 74706451-74706475, 74706506, 74706513-74706514, 74706601-74706608
305EIF2B2140.9867424242424214105675471590-75471603
306MLH3140.9926639156350332436275506687-75506718
307FLVCR2140.996837444655285158176045382, 76045510-76045512, 76045570
308TGFB3140.996771589991934123976447019-76447022
309ESRRB140.9574328749181465152776964641, 76964668-76964672, 76964683-76964731, 76964786-76964795
310POMT2140.94141145139814132225377786862-77786900, 77786906-77786991, 77787009-77787015
311GALC140.94120505344995121205888459314-88459358, 88459384-88459399, 88459404-88459411, 88459421-88459457, 88459463-88459477
312SPATA7140.997222222222225180088899530, 88899547-88899550
313TTC8140.995478036175717154889343667-89343673
314ATXN3140.9567219152854547108692537348-92537394
315VRK1140.994122586062137119197304111-97304114, 97304152-97304153, 97322488
316AMN140.551395007342146111362103390139-103390166, 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
317INF2140.844533333333335833750105167729-105167732, 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
318NIPA1150.8202020202020217899023086234-23086411
319SNRPN150.99446749654219472325222089-25222091, 25222964
320OCA2150.9956297179181611251728263571-28263577, 28326942-28326945
321TRPM1150.9970906068162914481231320562-31320565, 31332375-31332381, 31353662-31353664
322IVD150.993754879000788128140710451-40710458
323CHST14150.79487179487179232113140763413-40763545, 40763559-40763591, 40763643-40763648, 40763670-40763671, 40763675-40763678, 40763693-40763703, 40763779-40763821
324CAPN3150.9873366013071931244842652004-42652034
325CDAN1150.86129207383279511368443019898-43019903, 43019926-43019948, 43021006, 43021780-43021784, 43022911, 43026483-43026505, 43028523-43028546, 43028558-43028595, 43028606-43028614, 43028683-43028704, 43028710-43028978, 43029211-43029300
326STRC150.96828078078078169532843896259-43896261, 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
327STRC150.99664991624791259744003188-44003189
328STRC150.9528205128205192195044007198-44007213, 44007264-44007265, 44007269-44007272, 44007336-44007342, 44007506-44007513, 44007532-44007548, 44007555-44007563, 44007648-44007652, 44007737-44007750, 44009589-44009590, 44009601, 44009650-44009656
329SPG11150.999181669394446733244955721-44955726
330DUOX2150.97503765870454116464745398401-45398403, 45398455-45398458, 45401078-45401081, 45401087-45401088, 45403591-45403604, 45403612-45403629, 45403635, 45403644-45403688, 45403760-45403783, 45404009
331GATM150.962264150943448127245670604-45670651
332FBN1150.9974466109563622861648737585, 48737590-48737597, 48826316-48826319, 48936958-48936966
333CEP152150.999798590130921496549036499
334SCG3150.999289267945981140751975288
335TPM1150.9906432748538885563335063, 63336019, 63336023-63336028
336PPIB150.881720430107537765164455091-64455113, 64455123-64455163, 64455173-64455185
337CLN6150.92414529914537193668506711-68506712, 68521840-68521841, 68521856-68521922
338NR2E3150.9755434782608727110472103901-72103903, 72103908, 72103917-72103933, 72105814, 72105861-72105865
339HEXA150.995597484276737159072668267-72668271, 72668277, 72668288
340HCN4150.705426356589151064361273614851-73614906, 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
341PSTPIP1150.994404476418867125177320958-77320964
342RPS17150.98774509803922540882823348, 82824441, 82824444-82824445, 82824458
343RPS17150.98774509803922540883207691, 83208784, 83208787-83208788, 83208801
344POLG150.9766129032258187372089864030, 89876791-89876813, 89876826-89876827, 89876835-89876869, 89876912-89876920, 89876930-89876933, 89876938-89876941, 89876952-89876960
345MESP2150.87604690117253148119490319723-90319746, 90319773-90319778, 90320021-90320064, 90320080-90320125, 90320131-90320146, 90320150-90320161
346BLM150.9964739069111415425491303489, 91303496, 91303501, 91303505, 91312738-91312744, 91328191-91328193, 91337432
347VPS33B150.9946062567421810185491565384-91565393
348IGF1R150.9807504873294379410499192821-99192826, 99192847-99192904, 99250827, 99250830, 99250833, 99250842, 99251234-99251236, 99251282-99251283, 99473504, 99473515-99473517, 99473522-99473523
349HBZ160.48717948717949220429203891-204011, 204020-204044, 204051-204079, 204087-204095, 204271-204291, 204300-204302, 204325-204335, 204340
350HBM160.70657276995305125426216309-216315, 216321-216362, 216376-216383, 216393-216458, 216609-216610
351HBA2160.69230769230769132429222918-222955, 222966-223006, 223215-223240, 223285-223311
352GNPTG160.91721132897603769181401967-1402000, 1402103-1402106, 1402240-1402277
353CLCN7160.9123242349048821224181497424-1497426, 1497528-1497540, 1500498-1500534, 1500610-1500616, 1503879-1503881, 1506170, 1509120-1509126, 1524835-1524975
354IGFALS160.9244306418219514619321840613-1840651, 1840951-1840993, 1841029, 1841102-1841103, 1841232-1841238, 1841293-1841296, 1841538, 1841554, 1841788-1841824, 1842084-1842086, 1842186, 1842296-1842302
355GFER160.582524271844662586182034220-2034477
356TSC2160.9806415929203510554242103387-2103422, 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
357PKD1160.822413258983892293129122139818-2139819, 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
358ABCA3160.9804496578690110051152328409-2328414, 2328421-2328433, 2328444-2328447, 2333187-2333189, 2333194-2333202, 2333208-2333210, 2334951-2334961, 2334976-2334999, 2338065-2338091
359MEFV160.985080988917313523463304491-3304507, 3304573-3304576, 3304657, 3306344, 3306358-3306359, 3306384-3306389, 3306422-3306425
360SLX4160.990009082652135555053632604-3632605, 3639273-3639280, 3639511-3639517, 3639591-3639595, 3639845-3639853, 3639860-3639864, 3639874-3639877, 3639939-3639946, 3647836, 3647920-3647924, 3651037
361CREBBP160.9166325556010461173293777761-3777784, 3778166, 3778177, 3778266-3778268, 3778313, 3778391-3778396, 3778417-3778464, 3778559-3778566, 3778576-3778579, 3778629-3778637, 3778723-3778727, 3778760, 3778764-3778766, 3778770, 3778778-3778790, 3778826-3778928, 3778934-3778957, 3778974-3779020, 3779056-3779058, 3779063-3779064, 3779132-3779226, 3779243-3779249, 3779274-3779309, 3779363-3779377, 3779386-3779389, 3779393, 3779418-3779429, 3779444-3779475, 3779487-3779493, 3779708-3779709, 3900800-3900807, 3929833-3929917
362GLIS2160.960634920634926215754384868, 4386729, 4387102-4387118, 4387161-4387163, 4387357-4387359, 4387365-4387375, 4387386-4387411
363ALG1160.9118279569892512313955121876-5121914, 5121989, 5121992, 5128784, 5128854-5128879, 5130968-5130999, 5131034-5131036, 5133751-5133758, 5134776-5134782, 5134878-5134882
364MYH11160.9947811447811431594015811098-15811122, 15811128-15811131, 15818145, 15932020
365ABCC6160.9858156028368864451216244549, 16248830-16248836, 16276714-16276716, 16291967-16291968, 16313509-16313515, 16315531-16315546, 16317264-16317291
366UMOD160.94071762870515114192320355366, 20359867-20359874, 20359878, 20359883, 20359887-20359889, 20359977-20360010, 20360040-20360043, 20360092-20360126, 20360139-20360165
367OTOA160.997953216374277342021742176-21742182
368SCNN1B160.973998959958450192323359977, 23360154-23360186, 23360192, 23391894-23391903, 23391913-23391917
369TUFM160.932748538011792136828857388-28857427, 28857539-28857590
370ATP2A1160.9910179640718627300628911951-28911956, 28912112-28912119, 28912135-28912147
371PHKG2160.9221949221949295122130760142-30760236
372VKORC1160.973577235772361349231104730-31104742
373FUS160.9873497786211320158131195238, 31195273, 31195283-31195293, 31195317-31195321, 31195607, 31195699
374SLC5A2160.9470034670629107201931499991-31499993, 31500042-31500072, 31500251-31500264, 31500304-31500309, 31500320-31500325, 31500335-31500350, 31500461-31500491
375PHKB160.997562461913478328247533743-47533745, 47533756-47533759, 47683070
376NOD2160.9807877041306460312350733443-50733455, 50733460-50733462, 50733466-50733472, 50733755-50733760, 50733859, 50744992-50745002, 50745064-50745066, 50745105-50745108, 50745119, 50745123, 50745474-50745483
377CYLD160.99790356394136286250825513, 50826564-50826568
378SALL1160.9869182389937152397551175400, 51175642-51175655, 51175658-51175667, 51175670-51175679, 51175691-51175701, 51185077-51185082
379RPGRIP1L160.999240121580553394853652998, 53653002, 53671647
380MMP2160.950579929399998198355513407-55513498, 55513507-55513511, 55525742
381BBS2160.996768236380427216656553678-56553684
382SLC12A3160.9922405431619824309356899261-56899265, 56921837-56921848, 56921894, 56921932-56921937
383COQ9160.99895506792059195757481418
384GPR56160.998062015503884206457695715-57695718
385TK2160.957792207792213992466583844-66583856, 66583946, 66583950-66583955, 66583960, 66584011-66584013, 66584016-66584017, 66584029-66584041
386HSD11B2160.70525451559934359121867465152-67465331, 67469640-67469644, 67469956, 67469970-67470029, 67470039-67470045, 67470202-67470208, 67470257-67470282, 67470288-67470289, 67470514-67470535, 67470701-67470719, 67470739-67470768
387LCAT160.9470899470899570132367974101-67974105, 67976613, 67976766-67976772, 67976860-67976879, 67976989-67977022, 67977989-67977991
388CDH3160.9847389558232938249068679542-68679570, 68679580, 68679586, 68725780-68725786
389CDH1160.9867874669686735264968771327-68771343, 68771360-68771366, 68857429-68857439
390COG8160.9483414899401895183969364772-69364773, 69364783-69364787, 69364800-69364817, 69368680-69368683, 69373088-69373096, 69373174-69373179, 69373208-69373241, 69373248, 69373313-69373314, 69373319, 69373326-69373336, 69373345, 69373348
391TAT160.99926739926741136571606574
392HP160.9811629811629823122172093014-72093036
393GCSH160.781609195402311452281129742-81129769, 81129786-81129855, 81129868-81129883
394GAN160.90969899665552162179481348719-81348792, 81348798-81348885
395MLYCD160.66666666666667494148283932750-83933222, 83933246-83933249, 83933261-83933277
396LRRC50160.9944903581267212217884179046-84179048, 84179100-84179108
397FOXF1160.6859649122807358114086544176-86544249, 86544257-86544274, 86544292-86544309, 86544353-86544359, 86544403, 86544479-86544528, 86544553-86544554, 86544559, 86544593-86544605, 86544692-86544738, 86544849-86544894, 86544920-86544949, 86544962, 86544965-86544977, 86544980, 86544988-86545013, 86545103-86545112
398FOXC2160.57436918990704641150686600963-86600990, 86601066-86601072, 86601141-86601147, 86601408-86601450, 86601490-86601524, 86601628, 86601631-86601633, 86601663-86601671, 86601675, 86601685, 86601698-86602156, 86602169-86602196, 86602199-86602207, 86602298-86602300, 86602311, 86602317, 86602320, 86602361-86602364
399JPH3160.86470850022252304224787636902-87636908, 87678034, 87678037-87678038, 87678402, 87723252-87723261, 87723270-87723279, 87723287-87723294, 87723334-87723345, 87723352-87723386, 87723418-87723452, 87723467-87723473, 87723534-87723560, 87723577-87723620, 87723630-87723640, 87723647-87723683, 87723693-87723700, 87723749-87723764, 87723965-87723990, 87724022-87724028
400CYBA160.5476190476190526658888709770-88709886, 88709907-88709979, 88712537-88712585, 88713522, 88717364-88717389
401APRT160.966850828729281854388876547-88876550, 88878236-88878239, 88878285, 88878288, 88878300-88878307
402GALNS160.90057361376673156156988884445-88884480, 88923166-88923285
403SPG7160.93551088777219154238889574826-89574931, 89574947-89574993, 89599007
404FANCA160.9796245421245489436889805048-89805058, 89805065, 89805069-89805071, 89825055, 89842167-89842172, 89842181-89842187, 89842198, 89842201, 89877375, 89877379, 89882945-89883000
405TUBB3160.81448632668145251135389989810-89989866, 90001292, 90001601, 90001679-90001725, 90001733-90001773, 90001846-90001891, 90001903-90001905, 90001917, 90001943, 90001949, 90001962-90001967, 90002025-90002044, 90002051-90002059, 90002185-90002201
406PRPF8170.99871575342466970081561572-1561575, 1587811-1587815
407CTNS170.971737323358273412033559996-3560016, 3560022-3560033, 3563610
408CHRNE170.979757085020243014824802353-4802354, 4802378-4802380, 4802577-4802580, 4802612-4802616, 4802621, 4802627, 4802635-4802641, 4802768-4802771, 4804088-4804089, 4804430
409GP1BA170.953645833333338919204835904-4835910, 4836020-4836026, 4837212-4837228, 4837257-4837291, 4837421, 4837562-4837574, 4837739, 4837756, 4837763-4837768, 4837777
410AIPL1170.9991341991342111556330075
411PITPNM3170.9292307692307720729256358664-6358672, 6358689-6358717, 6358741-6358747, 6358771-6358809, 6358815-6358858, 6358864, 6358883-6358912, 6358921-6358939, 6358961-6358963, 6374529-6374531, 6374576, 6459705-6459726
412ACADVL170.974085365853665119687123304-7123318, 7123336-7123340, 7123481-7123489, 7125310, 7127661-7127673, 7127697-7127699, 7127979-7127983
413CHRNB1170.964807436918995315067348447-7348450, 7348491-7348498, 7348653-7348666, 7348677-7348686, 7348719-7348728, 7350174-7350176, 7358650-7358653
414MPDU1170.90188172043011737447489280-7489291, 7490235-7490236, 7490277-7490335
415GUCY2D170.8387681159420353433127906366-7906780, 7906820-7906848, 7906893-7906919, 7906933-7906965, 7906994-7907000, 7907058-7907060, 7907064-7907066, 7907173-7907176, 7907312-7907324
416ALOX12B170.96248812915487921067976470-7976478, 7976485, 7982778-7982789, 7984233-7984243, 7984444-7984489
417ALOXE3170.9367977528089913521368012567-8012573, 8012650-8012661, 8013245-8013286, 8013302-8013320, 8013433-8013437, 8013445, 8013450-8013454, 8013718-8013729, 8013734-8013739, 8013750-8013770, 8013804-8013808
418HES7170.396755162241894096788024889-8025026, 8025050, 8025076-8025102, 8025124-8025157, 8025166-8025194, 8025204-8025250, 8025256-8025269, 8025302-8025308, 8025314-8025340, 8025661-8025745
419MYH8170.998624011007918581410301920, 10302121, 10302127, 10302141-10302145
420MYH2170.99982835564711582610429172
421SCO1170.99337748344371690610600615-10600619, 10600688
422ELAC2170.9887142281338228248112896192, 12898295, 12898311, 12921141-12921143, 12921150-12921170, 12921246
423COX10170.994744744744747133214095345-14095351
424PMP22170.927536231884063548315163988-15164018, 15164038-15164041
425TNFRSF13B170.99886621315193188216855884
426FLCN170.9936781609195411174017116969-17116971, 17117034, 17117052, 17117062-17117063, 17117074-17117077
427RAI1170.930256948086399572117696314-17696318, 17696373-17696401, 17696415-17696425, 17696436-17696498, 17696528, 17696531, 17696544-17696556, 17696709-17696710, 17696741-17696767, 17696791-17696798, 17696840-17696844, 17696992, 17697003, 17697013, 17697019-17697024, 17697090-17697134, 17697493-17697494, 17697499, 17697503, 17697517-17697522, 17697610-17697626, 17697788-17697806, 17697895-17697901, 17698055-17698063, 17698474-17698477, 17698755-17698759, 17698800-17698801, 17698810, 17698813, 17698826-17698831, 17698837, 17699038, 17699161-17699170, 17699174, 17699295, 17699525, 17699617-17699646, 17699758-17699764, 17699989-17699990, 17700002-17700010, 17700182, 17700219-17700230, 17700573-17700574, 17700792-17700795, 17701566-17701572, 17701578-17701583, 17701611-17701614
428ATPAF2170.966666666666672987017921942-17921951, 17924466-17924484
429MYO15A170.889832908524511671059318022911-18022914, 18023739-18023780, 18023830-18023832, 18023855, 18023865-18023887, 18023993-18024069, 18024114-18024636, 18024649-18024758, 18024764-18024839, 18024857-18024887, 18025047-18025055, 18025170-18025197, 18044411, 18052257-18052260, 18052848, 18053823-18053826, 18054492-18054498, 18054822-18054841, 18057089-18057125, 18057132-18057170, 18057178-18057210, 18060316-18060319, 18061063-18061078, 18061096-18061105, 18061127-18061129, 18061135-18061151, 18061161-18061167, 18064648, 18065899-18065901, 18070945-18070976, 18075023
430UNC119170.6957123098201922072326879356-26879575
431NEK8170.9995189995191207927061868
432SLC6A4170.9836238774432131189328534808, 28543209-28543234, 28548941-28548942, 28548953-28548954
433NF1170.9914319248826373852029422328-29422387, 29546083-29546084, 29554237, 29586112, 29652847-29652853, 29677288-29677289
434HNF1B170.9880525686977320167436061028-36061031, 36091726, 36104657-36104663, 36104675-36104676, 36104683, 36104715, 36104721-36104722, 36104822-36104823
435TCAP170.980158730158731050437822034-37822039, 37822044-37822047
436KRT10170.85868945868946248175538975078-38975080, 38975088-38975095, 38975097-38975107, 38975111-38975128, 38975133-38975134, 38975160-38975347, 38975369-38975376, 38975389-38975390, 38975394-38975401
437KRT13170.995642701525056137739661619-39661624
438KRT9170.9748931623931647187239728132-39728166, 39728197-39728208
439KRT14170.9654686398872449141939739513, 39739580-39739582, 39742611, 39742965-39743001, 39743030-39743036
440KRT16170.966244725738448142239766187-39766190, 39766598, 39766601, 39766628-39766630, 39768816-39768853, 39768935
441KRT17170.9753656658968432129939780379-39780381, 39780385-39780390, 39780516-39780530, 39780574-39780581
442JUP170.99821268990174223839915027-39915030
443FKBP10170.998284734133793174939969301, 39974696, 39974699
444STAT5B170.9610829103214992236440370308, 40370842, 40371349-40371399, 40371429-40371450, 40371730-40371744, 40371760-40371761
445STAT3170.998702983138783231340491370-40491372
446NAGLU170.85304659498208328223240688329-40688579, 40688586-40688653, 40688666-40688673, 40695503
447WNK4170.95337620578778174373240932738-40932846, 40932856-40932899, 40932913-40932919, 40932923-40932929, 40932967-40932973
448SOST170.8317757009345810864241832755-41832798, 41832869-41832900, 41832911-41832935, 41832948, 41832951, 41833025-41833027, 41833072-41833073
449NAGS170.81246105919003301160542082032-42082070, 42082081-42082117, 42082127-42082133, 42082194-42082218, 42082224-42082260, 42082278-42082284, 42082323-42082337, 42082416, 42082429, 42083083-42083087, 42083102-42083104, 42083167-42083169, 42083173, 42083201-42083207, 42083230-42083233, 42083237-42083239, 42083244-42083249, 42083256-42083262, 42083395-42083401, 42083471-42083510, 42083516-42083522, 42083586-42083605, 42083976-42083983, 42083987, 42084000-42084002, 42084005, 42084007-42084012
450SLC4A1170.9908625730994225273642328571-42328577, 42330683-42330689, 42335078-42335081, 42335139-42335145
451GRN170.81705948372615326178242426864, 42427843, 42427850-42427855, 42428070-42428073, 42428084-42428091, 42428102-42428139, 42428150-42428154, 42428518-42428519, 42428794, 42429410-42429426, 42429561-42429575, 42429709-42429737, 42429744-42429789, 42429806-42429835, 42429881-42429939, 42430029-42430083, 42430117-42430125
452ITGA2B170.9961538461538512312042452037, 42452049-42452051, 42452414-42452416, 42452455-42452457, 42461277, 42461280
453GFAP170.996150885296385129942992473-42992477
454PLEKHM1170.9908546199936929317143515313-43515320, 43530882, 43531406-43531411, 43552534-43552540, 43552714-43552720
455MAPT170.9965679965688233144060772, 44061036, 44061172-44061175, 44101484-44101485
456WNT3170.9344569288389570106844845805-44845807, 44845818-44845823, 44847362, 44851036-44851055, 44851134-44851142, 44851233-44851238, 44851258-44851261, 44895919-44895938, 44895951
457ITGB3170.9835234474017739236745331231-45331259, 45331278-45331287
458PNPO170.980916030534351578646019046-46019055, 46019061-46019064, 46019072
459SGCA170.9759450171821328116448247634-48247653, 48247667-48247674
460COL1A1170.9861205915813461439548265936-48265951, 48271372, 48276614-48276625, 48276785-48276812, 48277144, 48277147-48277149
461NOG170.7339055793991418669954671585-54671606, 54671656-54671693, 54671733-54671756, 54671771-54671795, 54671821-54671841, 54671932-54671939, 54672138-54672145, 54672186-54672225
462MKS1170.998214285714293168056283660, 56292110, 56295991
463TRIM37170.9920552677029423289557105885-57105889, 57105909-57105917, 57125056-57125058, 57168670-57168675
464AP1S2170.91506410256415362458179732-58179736, 58179908-58179909, 58180038-58180083
465CA4170.972310969116082693958227396-58227403, 58227427, 58236660-58236661, 58236673-58236682, 58236703-58236707
466TBX4170.9493284493284583163859533888-59533919, 59533943-59533963, 59534005-59534034
467BRIP1170.9930666666666726375059763446-59763460, 59763469-59763478, 59793371
468ACE170.92374394287172299392161554456-61554704, 61557712, 61557715, 61561830-61561831, 61561836-61561838, 61561853, 61561864-61561865, 61561870, 61566437-61566443, 61574566-61574583, 61574593-61574599, 61574642-61574648
469TACO1170.99440715883669589461678452-61678456
470SCN4A170.97749954636182124551162019228-62019250, 62019273-62019277, 62026054-62026057, 62026114-62026119, 62026123, 62026753-62026754, 62038697-62038730, 62038749, 62038774-62038778, 62038787-62038791, 62043574-62043603, 62043841-62043845, 62048522, 62048525-62048526
471POLG2170.997942386831283145862487058-62487060
472AXIN2170.9691943127962178253263532456-63532470, 63533442, 63533516-63533519, 63533666-63533713, 63533743-63533745, 63533758-63533761, 63533774, 63554542, 63554669
473SOX9170.88039215686275183153070117817, 70117937-70117940, 70118908-70118909, 70119882-70119886, 70119896-70119909, 70119915-70119919, 70119969, 70119972-70119975, 70119983-70119993, 70120006-70120021, 70120027-70120069, 70120075-70120116, 70120124-70120152, 70120221, 70120226-70120227, 70120416, 70120435-70120436
474COG1170.89738362215426302294371189209-71189397, 71189406-71189462, 71189472-71189523, 71193464, 71193469, 71199275-71199276
475DNAI2170.9895489548954919181872306216-72306226, 72306237-72306244
476USH1G170.9502164502164569138672915710-72915715, 72916141, 72916189, 72916200-72916209, 72916481-72916487, 72919005-72919038, 72919140-72919143, 72919147-72919148, 72919159-72919162
477TSEN54170.88361796331436184158173512642-73512697, 73512827-73512835, 73512858-73512864, 73512870-73512981
478ITGB4170.94551106235144298546973726469-73726476, 73726563, 73726985-73726992, 73727029, 73732683-73732686, 73733685-73733725, 73738469, 73738749-73738759, 73738811, 73738814-73738815, 73738835, 73744936-73744937, 73748374-73748386, 73749846-73749871, 73749901-73749904, 73749946-73750055, 73751782-73751810, 73751832-73751835, 73751844-73751874
479GALK1170.89821882951654120117973754320-73754331, 73754372-73754379, 73754593-73754616, 73759155-73759156, 73759162-73759168, 73759178-73759182, 73759193, 73761103-73761141, 73761173-73761174, 73761198-73761217
480UNC13D170.94775435380385171327373824165, 73826478-73826482, 73826659-73826675, 73826680, 73826706, 73827367-73827380, 73827412-73827413, 73827418, 73830473-73830486, 73831502-73831540, 73831728, 73832315, 73832751-73832758, 73832763-73832764, 73832769-73832777, 73835968, 73838995-73839004, 73839113-73839142, 73839250-73839256, 73839263-73839269
481SEPT9170.89778534923339180176175398440-75398443, 75398447, 75398741-75398757, 75483582, 75484869-75484874, 75484907-75484915, 75484941-75484946, 75494605-75494740
482GAA170.9730675061210277285978078522-78078524, 78078564-78078597, 78078705-78078713, 78082206-78082208, 78082595-78082598, 78086377-78086400
483SGSH170.9324055666004102150978190836-78190861, 78190959-78190991, 78194051-78194058, 78194078-78194112
484ACTG1170.9875886524822714112879477758-79477760, 79479002-79479012
485FSCN2170.86206896551724204147979495740-79495769, 79495789-79495792, 79495892, 79495982-79495988, 79496207, 79496210, 79496215-79496216, 79496221-79496232, 79496253-79496257, 79503213-79503216, 79503717, 79503752, 79503764-79503766, 79503772, 79503789-79503794, 79503803-79503810, 79503909-79503911, 79503939-79503945, 79503953-79503962, 79503965-79503966, 79503973, 79503976, 79503992-79504003, 79504026-79504106
486TGIF1180.99668325041459412063451991, 3451994, 3452223-3452224
487NDUFV2180.95733333333333327509102749, 9102758-9102788
488AFG3L2180.95739348370927102239412376980-12377081
489NPC1180.99817565806627383721123533, 21124939, 21166269-21166273
490LAMA3180.985502899420121451000221269652-21269718, 21269736-21269789, 21269807-21269823, 21269910-21269914, 21426356, 21511103
491DSC3180.9843924191750342269128574310-28574311, 28622587-28622626
492DSC2180.9907612712490825270628681866-28681877, 28681897-28681909
493DSG2180.9874888293118942335729078215-29078256
494LOXHD1180.98447860156721103663644126858-44126859, 44126868-44126932, 44140196-44140223, 44140243-44140250
495MYO5B180.9933297277807837554747352977, 47380001, 47390527-47390535, 47402158, 47421311, 47421459, 47429129-47429133, 47721137-47721153, 47721163
496SMAD4180.9897528631705817165948584608, 48603045-48603047, 48603057, 48603061, 48603066-48603076
497FECH180.9581395348837254129055238709, 55253786-55253794, 55253809-55253852
498ATP8B1180.9922790202342929375655315871-55315882, 55328523-55328527, 55334395-55334397, 55364856, 55364860-55364867
499RAX180.6983669548511314104156936262-56936265, 56936284-56936311, 56936324-56936346, 56936354-56936417, 56936437-56936565, 56936586-56936622, 56940259-56940287
500LMAN1180.995433789954347153357000473, 57013281-57013283, 57026359-57026361
501CCBE1180.9361179361179478122157134045, 57134050-57134058, 57364493-57364531, 57364546-57364574
502TNFRSF11A180.92382495948136141185159992586-59992660, 60021752-60021761, 60051997-60052003, 60052076-60052101, 60052200, 60052203, 60052212-60052232
503CTDP1180.9029799029799280288677439990-77440183, 77440199-77440210, 77440218-77440240, 77474604, 77474611, 77474617, 77496406, 77513686-77513727, 77513740-77513743, 77513770
504ELANE190.77363184079602182804852876-852915, 853262-853403
505KISS1R190.287385129490398531197917503-917523, 917536, 917551-917659, 917712-917719, 918548-918570, 918582-918668, 919889-919894, 919914-919945, 919957-920002, 920020-920053, 920060-920106, 920290-920495, 920504-920522, 920530-920631, 920637-920748
506STK11190.984639016897082013021219367, 1219374, 1219380-1219384, 1219409-1219410, 1221317-1221321, 1221324, 1226642-1226646
507NDUFS7190.9922118380062356421387844-1387846, 1388584, 1393254
508GAMT190.854320987654321188101398837-1398843, 1399792-1399793, 1399808, 1399892-1399905, 1401308-1401327, 1401390-1401429, 1401437-1401470
509RAX2190.69549549549551695553770619-3770626, 3770632-3770712, 3770718-3770778, 3770921-3770924, 3770928-3770930, 3770935-3770946
510MAP2K2190.916874480465510012034099211-4099218, 4123781-4123872
511NDUFA11190.91079812206573384265896464-5896477, 5896480-5896496, 5896514, 5896998-5897003
512TUBB4190.929588014981279413356495567-6495613, 6495622-6495638, 6495645-6495672, 6502219, 6502222
513C3190.9603365384615419849926693455-6693461, 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
514INSR190.9737286093034510941497126629-7126636, 7184448-7184454, 7184491-7184494, 7184501, 7184529-7184530, 7184538-7184547, 7293813-7293847, 7293861-7293902
515MCOLN1190.955823293172697717437587651-7587660, 7592439-7592441, 7593999-7594019, 7594512-7594533, 7598492-7598512
516PNPLA6190.9565763052208817339847600866, 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
517STXBP2190.9158249158249215017827702038-7702064, 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
518ADAMTS10190.9501811594202916533128649811-8649817, 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
519TYK2190.95707070707071153356410463137-10463172, 10463613-10463635, 10463649-10463683, 10463699-10463700, 10464233, 10464238-10464250, 10464255-10464260, 10465273-10465274, 10475649-10475655, 10476365-10476386, 10476472-10476477
520DNM2190.92231151932644203261310828919-10829079, 10939790-10939792, 10939798-10939810, 10939824-10939826, 10939830-10939835, 10940911-10940921, 10940941, 10940950, 10940954-10940957
521LDLR190.997289972899737258311200273-11200279
522PRKCSH190.9848771266540624158711558254-11558255, 11558307, 11558343-11558363
523MAN2B1190.90843214756258278303612758080-12758088, 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
524GCDH190.9893697798025814131713002119, 13002126-13002128, 13002135-13002139, 13002150-13002154
525CACNA1A190.820635553782741349752113318127-13318130, 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
526NOTCH3190.88931955211025771696615271511-15271522, 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
527CYP4F22190.9899749373433616159615636311-15636317, 15662270-15662278
528JAK3190.88325925925926394337517940917-17940966, 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
529SLC5A5190.9725672877846853193217984947-17984948, 17984960-17984981, 17985011-17985012, 17994687, 17994689-17994700, 17994711-17994723, 17999212
530IL12RB1190.996480643539477198918177486-18177489, 18197631-18197633
531COMP190.77352682497801515227418896491-18896544, 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
532CEBPA190.19591457753018866107733792244-33792253, 33792451-33792488, 33792498-33792565, 33792571-33793320
533SCN1B190.950433705080554080735521725-35521764
534MAG190.9580010632642279188135790617, 35790634, 35790644-35790649, 35790729-35790735, 35790738, 35791061-35791109, 35791131-35791144
535PRODH2190.9472377405338385161136297667, 36297722-36297726, 36297946, 36303086-36303108, 36303281-36303328, 36303334-36303340
536NPHS1190.96806226516371119372636336326-36336329, 36336593-36336604, 36336623-36336629, 36336644-36336665, 36336687-36336700, 36336928-36336933, 36337044, 36337054-36337069, 36337090-36337092, 36339577-36339610
537SDHAF1190.6034482758620713834836486177-36486186, 36486193-36486204, 36486227-36486262, 36486300, 36486304-36486307, 36486341-36486361, 36486369-36486421, 36486504
538WDR62190.9849081364829469457236545880-36545885, 36546010-36546013, 36546024, 36549749-36549755, 36558288-36558294, 36595857-36595900
539RYR1190.941588939604428831511738931385, 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
540ACTN4190.93567251461988176273639138411-39138417, 39138425-39138433, 39138441-39138446, 39138452-39138461, 39138474-39138517, 39138537-39138547, 39200971-39200982, 39214637-39214643, 39214822-39214827, 39214846-39214869, 39216455-39216487, 39218596-39218602
541DLL3190.75767366720517450185739990004, 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
542PRX190.96534427724578152438640900734, 40900862, 40901306, 40901310-40901312, 40903400, 40903406-40903408, 40903415, 40903423-40903431, 40904527-40904528, 40909635-40909676, 40909682-40909769
543TGFB1190.82949701619778200117341836999-41837001, 41837010-41837095, 41838046-41838047, 41848105-41848111, 41854236-41854246, 41854249-41854256, 41854261-41854262, 41854303, 41858864-41858904, 41858911-41858949
544BCKDHA190.9768310911808731133841903750-41903761, 41916837-41916839, 41929058, 41929063-41929072, 41930353-41930357
545ATP1A3190.92740619902121267367842470782-42470788, 42470963-42470977, 42470995-42471010, 42471016-42471023, 42471041-42471062, 42471086-42471113, 42471182-42471186, 42471308-42471372, 42480568-42480600, 42480646-42480670, 42480676-42480718
546ETHE1190.958169934640523276544011005, 44011008, 44012212, 44031259-44031283, 44031294-44031296, 44031321
547BCAM190.89825119236884192188745312383-45312452, 45314499-45314507, 45322123-45322125, 45322956-45322959, 45323962-45324019, 45324038-45324079, 45324173-45324178
548APOE190.6100628930817637295445411861-45411899, 45411908-45411954, 45411963-45412021, 45412034-45412038, 45412065-45412066, 45412092-45412140, 45412151-45412190, 45412204-45412262, 45412373-45412378, 45412413-45412442, 45412456-45412491
549BLOC1S3190.4236453201970435160945682578-45682602, 45682623-45682629, 45682688-45682711, 45682744-45682788, 45682827-45682871, 45682881-45682959, 45682987, 45683006-45683130
550ERCC2190.9662724485326377228345856401, 45867002-45867012, 45867023-45867044, 45867145-45867151, 45867255-45867264, 45867292-45867316, 45867322
551OPA3190.970534069981581654346032426-46032440, 46032628
552SIX5190.70720720720721650222046268977-46268987, 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
553DMPK190.89365079365079201189046273768-46273795, 46274253-46274282, 46278242, 46281386-46281393, 46281764-46281766, 46285451-46285463, 46285493-46285610
554FKRP190.57190860215054637148847258814-47258822, 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
555CRX190.977777777777782090048342621, 48342633-48342638, 48342647-48342659
556DBP190.6247443762781236797849138837-49139030, 49139036-49139082, 49139088-49139118, 49139127-49139164, 49139229-49139232, 49139241-49139247, 49140176-49140181, 49140186-49140189, 49140196-49140231
557FTL190.99810606060606152849469087
558GYS1190.995934959349599221449473869-49473877
559MED25190.9349376114082146224450321620-50321654, 50321665-50321666, 50321845-50321854, 50333087-50333090, 50333455-50333460, 50333768-50333782, 50333792-50333799, 50333805-50333807, 50334072-50334081, 50334116-50334144, 50335402-50335414, 50338434, 50339550-50339559
560PNKP190.93422733077905103156650364615-50364619, 50365135-50365137, 50365328-50365330, 50365480-50365504, 50365534-50365538, 50365628-50365629, 50365795-50365798, 50365818-50365824, 50365835-50365865, 50365984-50365989, 50370409-50370417, 50370429-50370431
561MYH14190.97905416462117128611150713633-50713661, 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
562KCNC3190.492084432717681155227450823503-50823606, 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
563KLK4190.958169934640523276551411944, 51411949-51411955, 51412602-51412615, 51412620-51412624, 51412653, 51412667-51412670
564ETFB190.9577329490874244104151856432-51856465, 51857404-51857413
565NLRP12190.99780288763347318654304629, 54313667-54313669, 54314393-54314395
566PRKCG190.83428844317096347209454385749-54385750, 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
568TSEN34190.8821007502679511093354695231-54695238, 54695283-54695375, 54695391-54695398, 54695665
569NLRP7190.999357739242132311455450976-55450977
570TNNT1190.8555133079847911478955648548-55648558, 55648566-55648580, 55652271, 55652275-55652280, 55652311-55652324, 55652654-55652670, 55656919, 55657825-55657834, 55658049-55658075, 55658376-55658387
571TNNI3190.7898193760262712860955667578-55667625, 55667639-55667659, 55667680-55667697, 55667972-55668012
572AURKC190.99462365591398593057743141-57743145
573TPO20.9225553176302621728021480916-1480948, 1480982-1480987, 1481003-1481047, 1481057-1481060, 1481093-1481117, 1481145-1481158, 1481204-1481252, 1481258-1481296, 1481345, 1481349
574RPS720.9880341880341975853623232-3623236, 3623263-3623264
575KLF1120.9727095516569242153910183844-10183885
576LPIN120.998877665544333267311955329-11955330, 11955333
577MYCN20.69390681003584427139516082404-16082410, 16082433-16082463, 16082473-16082484, 16082492-16082600, 16082629-16082858, 16082867, 16082882, 16082895-16082928, 16086185-16086186
578MATN320.8870636550308165146120212173-20212183, 20212205-20212249, 20212284-20212392
579APOB20.99452234881683751369221266736-21266810
580POMC20.854477611940311780425384063-25384079, 25384164-25384211, 25384331, 25384357-25384358, 25384412-25384448, 25384464-25384475
581HADHB20.999298245614041142526507825
582OTOF20.95645645645646261599426685049, 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
583EIF2B420.9932598039215711163227592853-27592863
584C2orf7120.998448409619866386729293648-29293649, 29293798, 29294053-29294055
585ALK20.9851943244910572486329451816, 29462675-29462681, 29754866-29754871, 30143237-30143245, 30143402-30143413, 30143419-30143421, 30143423-30143425, 30143492-30143522
586XDH20.999500249875062400231560609, 31604522
587SRD5A220.935695538057744976231805823-31805846, 31805874-31805880, 31805883-31805900
588SPAST20.79686655861696376185132288915-32288952, 32288978-32289315
589CYP1B120.82169117647059291163238301660, 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
590SOS120.9947526236881621400239222327, 39285891, 39347490-39347491, 39347547-39347563
591ABCG520.94427402862986109195644050056-44050062, 44058918-44058919, 44058958-44058982, 44058992-44058996, 44059086-44059141, 44059171-44059178, 44059192, 44059198-44059201, 44059221
592ABCG820.9915924826904117202244099142-44099143, 44099419-44099422, 44099430-44099437, 44100980, 44102367-44102368
593LRPPRC20.9952210274790920418544115783, 44153052, 44222967-44222973, 44222984-44222994
594SIX320.7707707707707722999945169307-45169325, 45169333-45169396, 45169426, 45169437-45169458, 45169502-45169515, 45169522-45169535, 45169569-45169588, 45169597, 45169609-45169617, 45169634-45169668, 45169695-45169704, 45171736-45171745, 45171754, 45171757, 45171784-45171791
595EPCAM20.977777777777782194547596645, 47596656-47596661, 47596684-47596693, 47596698-47596700, 47596703
596MSH220.990374331550827280547630468-47630493, 47639636
597MSH620.93632133235366260408348010373-48010632
598LHCGR20.9604761904761983210048915925-48915927, 48982686-48982687, 48982691-48982695, 48982729-48982794, 48982800-48982806
599NRXN120.96587570621469151442550758412-50758417, 51254671-51254673, 51254676, 51254767-51254799, 51255072-51255078, 51255118-51255148, 51255262-51255274, 51255278-51255279, 51255294-51255295, 51255337-51255362, 51255385-51255411
600EFEMP120.9932523616734110148256102091-56102094, 56102158, 56144958, 56144972, 56144975-56144977
601PEX1320.999174917491751121261258684
602ATP6V1B120.9876783398184219154271163111-71163112, 71163128-71163133, 71163173, 71163185-71163187, 71163196-71163200, 71188070, 71192109
603MCEE20.979284369114881153171337209, 71337219-71337221, 71337235-71337241
604DYSF20.9944968553459135636071694034-71694040, 71753450-71753476, 71801426
605SPR20.6450381679389327978673114562-73114730, 73114743-73114749, 73114761-73114863
606ALMS120.990083173384521241250473612997-73613074, 73613084-73613087, 73613160-73613164, 73613277-73613302, 73675742, 73676823, 73676875, 73679586-73679589, 73679599, 73679745-73679747
607SLC4A520.998242530755716341474460581-74460584, 74513019, 74531616
608DCTN120.9906176700547336383774590479-74590496, 74590514-74590516, 74590528-74590529, 74596523-74596525, 74596529-74596531, 74598124-74598127, 74605327, 74605362-74605363
609MOGS20.961813842482196251474689004-74689008, 74692027-74692031, 74692066-74692068, 74692078-74692083, 74692098, 74692101, 74692143-74692164, 74692171-74692205, 74692243, 74692257-74692258, 74692261, 74692267-74692273, 74692355-74692361
610HTRA220.85185185185185204137774757134, 74757186-74757234, 74757262-74757303, 74757332-74757376, 74757387-74757391, 74757436-74757479, 74757527-74757544
611SUCLG120.999039385206531104184668456
612GGCX20.9846288976723835227785787989, 85788517-85788550
613SFTPB20.9773123909249626114685890909, 85895262-85895284, 85895292, 85895295
614REEP120.947194719471953260686564602-86564633
615EIF2AK320.95613249776186147335188926638-88926655, 88926664-88926792
616RPIA20.99358974358974693688991293-88991298
617TMEM12720.8158995815899613271796930883-96930925, 96930962-96930996, 96931007-96931012, 96931019-96931032, 96931039-96931041, 96931066-96931070, 96931077-96931090, 96931095-96931106
618SNRNP20020.99984401809391641196962712
619ZAP7020.93978494623656112186098340560-98340564, 98340607-98340613, 98340749-98340754, 98340803-98340884, 98349670-98349675, 98351169-98351172, 98355846, 98355849
620RANBP220.987286821705431239675109336133-109336134, 109347230, 109347802, 109357110-109357116, 109363167-109363200, 109368082-109368110, 109368327-109368341, 109371659, 109378625, 109382787-109382793, 109383051-109383058, 109383268-109383274, 109383315-109383321, 109383357, 109383771, 109399168
621NPHP120.99459193706981112034110917823-110917832, 110919189
622MERTK20.979633000112656313-112656366, 112786409-112786412, 112786416, 112786420-112786423
623GLI220.828187355597568184761121555022-121555025, 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
624BIN120.9668911335578591782127808378-127808384, 127808397-127808428, 127808785-127808791, 127816625-127816637
625PROC20.883838383838381611386128178889, 128178893-128178904, 128178920-128178925, 128180508-128180517, 128180610-128180627, 128180637-128180747, 128186095-128186097
626CFC120.80059523809524134672131279404, 131280366-131280477, 131280758-131280760, 131280778-131280785, 131285307-131285312, 131285362, 131285378-131285380
627LCT20.99671507607192195784136567437-136567439, 136567444-136567447, 136575342, 136590687-136590697
628MCM620.97769667477697552466136616947-136616959, 136633881-136633922
629ZEB220.97695473251029843645145147392-145147401, 145161627, 145274845-145274917
630NEB20.998648242715532719974152402512, 152417740, 152432727, 152432782-152432785, 152432792-152432800, 152486098, 152486105-152486109, 152486118, 152512821-152512824
631CACNB420.9993602047344811563152732984
632SCN2A20.99651046859422216018166171981-166171990, 166188061-166188064, 166237629-166237632, 166237705-166237707
633SCN1A20.99833249958312105997166903283-166903284, 166911245-166911252
634SCN9A20.99393326592518365934167085413, 167089953, 167089958-167089959, 167141064, 167141069-167141070, 167141074-167141076, 167141100-167141106, 167141115, 167141123, 167141131-167141139, 167144971-167144977, 167144981
635SLC25A1220.9990181639666222037172725332-172725333
636ITGA620.944444444444441823276173292517-173292698
637CHN120.98623188405797191380175869622-175869640
638HOXD1320.608527131782954041032176957619-176957848, 176957858-176957932, 176957938-176958028, 176958043, 176958160, 176958267-176958272
639AGPS20.97673242286292461977178257582-178257620, 178257714-178257715, 178346859-178346863
640PRKRA20.9501061571125347942179296824, 179296981, 179312278-179312281, 179312288-179312296, 179312305-179312307, 179315704-179315731, 179315742
641DFNB5920.9962228517469341059179318291, 179320841-179320843
642TTN20.9993117069667269100248179392321-179392360, 179392405-179392409, 179424094, 179425477-179425481, 179502116, 179510663-179510664, 179523799, 179539111, 179587856-179587859, 179593721, 179650732, 179650837-179650840, 179650847-179650848, 179654173
643NEUROD120.98786181139122131071182542824-182542836
644COL3A120.99022949329698434401189849593, 189861196, 189871663-189871702, 189872616
645COL5A220.99488888888889234500189909936-189909955, 189932796-189932798
646PMS120.9996427295462712799190719085
647MSTN20.999113475177311128190926988
648STAT120.98490901020861342253191859883-191859915, 191873727
649HSPD120.9976771196283441722198351840-198351843
650CASP820.98082869511441311617202123009, 202149544, 202149608-202149623, 202149663-202149673, 202149797-202149798
651ALS220.9981905910735894974202569867-202569868, 202571646-202571652
652BMPR220.9993583573949323117203384901-203384902
653NDUFS120.9995421245421212184207018361
654FASTKD220.99484294421003112133207652768-207652774, 207652788, 207652799-207652801
655CPS120.9984454807905874503211460233-211460239
656ABCA1220.98998459167951787788215809785, 215809788, 215846947, 215854084-215854134, 215854173-215854181, 215854292-215854298, 215862432-215862439
657SMARCAL120.9968586387434692865217297457-217297465
658PNKD20.98704663212435151158219204554-219204557, 219204565-219204575
659CYP27A120.9993734335839611596219646924
660WNT10A20.878787878787881521254219745718-219745722, 219745731-219745757, 219745767-219745788, 219745805, 219757557-219757564, 219757616-219757619, 219757628, 219757633-219757637, 219757642-219757646, 219757705-219757735, 219757867-219757873, 219757893-219757928
661DES20.907997169143671301413220283238-220283280, 220283286-220283292, 220283330-220283344, 220283395-220283396, 220283404-220283428, 220283472, 220283598-220283605, 220283696-220283724
662OBSL120.840274117026889095691220416269-220416308, 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
663PAX320.9953886693017171518223163263-223163269
664COL4A420.99427330173776295064227942676-227942681, 227942686-227942690, 227942703-227942705, 227968703-227968716, 227968766
665COL4A320.99780570516657115013228029445-228029451, 228029494, 228102700, 228145259-228145260
666SLC19A320.9939637826961891491228563994-228563996, 228564051-228564056
667CHRNG20.97425997425997401554233405347, 233405355, 233405367-233405376, 233406116, 233406223-233406229, 233409247-233409259, 233409272-233409275, 233409524-233409525, 233409591
668SAG20.9975369458128131218234243644-234243646
669UGT1A120.9993757802746611602234668953
670COL6A320.988672120830711089534238244872-238244895, 238249097-238249111, 238249299-238249300, 238249304, 238249317-238249321, 238270424-238270425, 238280461-238280465, 238283249, 238283335-238283368, 238283445-238283447, 238283452-238283456, 238287334, 238303560-238303567, 238303577, 238303603
671AGXT20.97540288379983291179241808283-241808288, 241808292, 241808299-241808304, 241808308, 241808319-241808323, 241808327-241808332, 241808352-241808355
672D2HGDH20.840996168582382491566242674654-242674689, 242674707-242674731, 242674758-242674760, 242674764, 242674803, 242689591-242689600, 242689683, 242689692-242689693, 242689697-242689701, 242689707-242689709, 242707169-242707200, 242707225-242707250, 242707281-242707384
673C20orf54200.9985815602836921410744361, 746184
674IDH3B200.99481865284974611582641135-2641140
675AVP200.262626262626263654953063276-3063448, 3063623-3063814
676PANK2200.7548161120840642017133869783-3869826, 3869865-3869995, 3870001-3870065, 3870076-3870082, 3870092-3870182, 3870206-3870231, 3870243-3870298
677PRNP200.9986876640419917624680152
678JAG1200.9824993163795564365710621449, 10621854-10621857, 10623161, 10654105-10654151, 10654168-10654178
679C20orf7200.992292870905598103813782207-13782214
680THBD200.89583333333333180172823028448-23028449, 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
681SNTA1200.82740447957839262151832000152-32000155, 32000425-32000426, 32031151-32031164, 32031168, 32031174-32031184, 32031197-32031426
682GDF5200.92363877822045115150634022396-34022401, 34022448, 34025118-34025134, 34025142-34025171, 34025214-34025220, 34025254-34025274, 34025549-34025581
683HNF4A200.985964912280720142543030047, 43052756-43052758, 43052775-43052787, 43052797-43052799
684ADA200.9587912087912145109243255142-43255145, 43255157-43255160, 43257766-43257771, 43257776, 43257782, 43280216-43280244
685CTSA200.9712758851035443149744520226-44520262, 44520357-44520358, 44523633-44523636
686SLC2A10200.9883148831488319162645338376-45338379, 45354887-45354901
687SALL4200.9813409234661659316250407020, 50408315-50408327, 50408338-50408342, 50408346-50408350, 50418825-50418858, 50418884
688PCK1200.999464954521131186956137827
689VAPB200.92076502732245873256964516-56964573
690GNAS200.95799457994583173857415325-57415355
691GNAS200.84071933204881496311457428696-57428722, 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
692COL9A3200.91435523114355176205561448417-61448494, 61448919-61448977, 61453504-61453505, 61456342-61456354, 61456363-61456373, 61457591-61457597, 61461902-61461907
693CHRNA4200.91932059447983152188461981056, 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
694KCNQ2200.88468881252386302261962038030, 62038035-62038036, 62038043-62038056, 62038235-62038237, 62038273-62038290, 62038617, 62038677-62038683, 62044852, 62065196-62065202, 62076654-62076667, 62103521-62103535, 62103544-62103563, 62103594-62103746, 62103771-62103816
695SOX18200.130735930735931004115562679521-62679524, 62679539-62679542, 62679619, 62679646-62679654, 62679662, 62679670-62679671, 62679678-62679695, 62679701-62679707, 62679716-62680315, 62680512-62680869
696APP210.9835711197578938231327542895-27542921, 27542928-27542938
697BACH1210.9891451831750324221130701870-30701872, 30715015-30715031, 30715067-30715070
698SOD1210.946236559139782546533032083, 33032088-33032111
699IFNGR2210.9280078895463573101434775850-34775922
700RCAN1210.6679841897233225275935987059-35987310
701RUNX1210.91545391545392122144336164432-36164475, 36164508-36164509, 36164513-36164517, 36164599-36164621, 36164702-36164704, 36164708-36164709, 36164715-36164722, 36164762, 36259260-36259264, 36259293-36259321
702CLDN14210.983333333333331272037833304-37833311, 37833327, 37833436-37833438
703TMPRSS3210.99926739926741136543810145
704CBS210.99456521739139165644480611-44480619
705CSTB210.777777777777786629745196085-45196150
706AIRE210.72588522588523449163845705890-45706021, 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
707ITGB2210.93896103896104141231046306753-46306754, 46308608-46308698, 46308723-46308745, 46308792-46308810, 46330221-46330226
708COL18A1210.92516619183286394526546875468-46875505, 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
709COL6A1210.93391642371234204308747401765-47401818, 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
710COL6A2210.8983660130719311306047531391-47531405, 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
711COL6A2210.926900584795322534247552280-47552288, 47552389-47552392, 47552455-47552458, 47552474-47552481
712FTCD210.90221402214022159162647565362-47565369, 47565378-47565425, 47565484-47565492, 47565732-47565780, 47565802, 47565805, 47565834-47565860, 47571603, 47571631, 47574138-47574144, 47574216-47574222
713PCNT210.980920986914391911001147744143-47744144, 47744166-47744196, 47766686-47766688, 47771425-47771426, 47783737-47783746, 47783793-47783799, 47786645-47786651, 47786656-47786657, 47786661, 47786699-47786701, 47811192-47811194, 47818007-47818017, 47818154-47818156, 47831302-47831305, 47831312, 47831444-47831479, 47832829, 47832832, 47832849-47832850, 47836704-47836725, 47848379-47848385, 47848460-47848461, 47848475-47848479, 47851666, 47852083-47852087, 47855968-47855969, 47855979-47855985, 47858095, 47858213-47858214, 47863832-47863838
714PEX26220.982570806100221691818561215-18561219, 18561228-18561238
715PRODH220.82695507487521312180318904408-18904419, 18904475-18904481, 18905848, 18905864-18905865, 18905975-18905981, 18908865-18908920, 18923528-18923568, 18923609-18923615, 18923622-18923800
716GP1BB220.1352657004830953762119711377-19711390, 19711401-19711441, 19711452-19711516, 19711532-19711874, 19711890-19711897, 19711907-19711972
717TBX1220.32997311827957997148819748428-19748803, 19753285-19753348, 19753425-19753525, 19753912-19754232, 19754239-19754373
718SMARCB1220.92659758203885115824129357-24129435, 24129444-24129449
719UPB1220.9800865800865823115524906768-24906787, 24919641-24919643
720HPS4220.9867424242424228211226849224, 26849227, 26849280-26849292, 26849300-26849311, 26859939
721CHEK2220.9767177739920541176129083906-29083917, 29083946-29083965, 29085165-29085171, 29120969-29120970
722NF2220.998881431767342178829999988-29999989
723SLC5A1220.9899749373433620199532463992-32463999, 32495198-32495203, 32495302-32495307
724TIMP3220.979559748427671363633198063-33198066, 33198071-33198072, 33198079, 33198085-33198086, 33198098-33198101
725MYH9220.9954105048444727588336685243-36685244, 36688095, 36688109-36688124, 36688131-36688132, 36689433-36689435, 36689834, 36698706, 36708222
726TRIOBP220.96999154691462213709838109237-38109267, 38119798-38119804, 38119891-38119921, 38120036-38120052, 38120177-38120199, 38120297-38120303, 38120426-38120432, 38122322-38122325, 38122389-38122392, 38122404-38122408, 38122423, 38122448-38122472, 38130459, 38147816-38147835, 38161746, 38161760-38161763, 38161770-38161771, 38161817, 38165150-38165151, 38165158-38165174, 38165179-38165181
727SOX10220.88436830835118162140138369504-38369509, 38369616-38369620, 38369817, 38369940-38369953, 38379401-38379406, 38379458, 38379518-38379529, 38379545-38379551, 38379607, 38379657-38379666, 38379672-38379759, 38379768-38379774, 38379788-38379791
728PLA2G6220.998347790169354242138528926-38528928, 38528933
729EP300220.97694962042788167724541523538-41523543, 41546099-41546118, 41546128-41546154, 41573777, 41573957-41573967, 41573974-41573981, 41574031-41574044, 41574124-41574132, 41574142-41574209, 41574239, 41574254-41574255
730TNFRSF13C220.6468468468468519655542322120-42322126, 42322130-42322132, 42322141-42322144, 42322214-42322220, 42322230-42322335, 42322642-42322698, 42322704-42322712, 42322765, 42322776-42322777
731CYB5R3220.93267108167776190643027391-43027430, 43045301-43045321
732ATXN10220.9341736694677994142846067944-46068024, 46068034-46068046
733TRMU220.9810426540284424126646731703-46731704, 46731711-46731729, 46751374-46751375, 46752821
734ALG12220.9856850715746421146750304181-50304183, 50307370-50307387
735MLC1220.9312169312169378113450502476-50502511, 50502524-50502526, 50502581-50502619
736SCO2220.960049937578033280150962664-50962688, 50962747-50962752, 50962760
737TYMP220.51690821256039700144950964199-50964203, 50964209-50964340, 50964346-50964347, 50964430-50964570, 50964675-50964905, 50965005-50965061, 50965077-50965106, 50965116-50965141, 50965156-50965167, 50967622-50967628, 50967636-50967637, 50967641-50967646, 50968028-50968032, 50968093-50968136
738ARSA220.8254593175853266152451063645-51063651, 51063661-51063680, 51063691-51063698, 51063710-51063711, 51063727-51063867, 51064046-51064052, 51064056, 51064058-51064065, 51064072-51064077, 51064088-51064092, 51064103, 51065761-51065765, 51065814-51065819, 51065829-51065834, 51066149-51066173, 51066184-51066201
739SHANK3220.66514111365371756524451113070-51113132, 51113476-51113542, 51113605-51113610, 51117527-51117528, 51117533, 51117751-51117752, 51117762, 51117765-51117767, 51117771, 51133236, 51133240-51133243, 51133356-51133359, 51135705-51135719, 51135951-51136143, 51143168, 51144500-51144505, 51158612-51158626, 51158693-51158698, 51158709-51159342, 51159361-51159385, 51159398-51159490, 51159515-51159518, 51159548, 51159551, 51159578-51159581, 51159603-51159632, 51159705-51159708, 51159777-51159785, 51159828-51159831, 51159965, 51159997-51160002, 51160604, 51160618-51160621, 51169149-51169230, 51169259, 51169263-51169267, 51169273-51169275, 51169288-51169740
740SUMF130.99555555555556511254458836, 4508714-4508715, 4508835, 4508853
741CAV330.9824561403508884568787515, 8787518, 8787521, 8787531-8787533, 8787536-8787537
742FANCD230.9929800724637731441610088296-10088311, 10088340-10088346, 10107168, 10114941-10114947
743VHL30.903426791277266264210183586-10183590, 10183702-10183712, 10183806-10183851
744TSEN230.997138769670964139812544785-12544788
745RAF130.99897277863382194712660105, 12660108
746WNT7A30.9438095238095259105013860538-13860565, 13860740-13860749, 13860755, 13860759-13860763, 13860783-13860786, 13921303-13921313
747XPC30.9961034360609311282314187441-14187450, 14189485
748COLQ30.9663742690058546136815563068-15563069, 15563075-15563079, 15563094-15563132
749THRB30.99927849927851138624169013
750TGFBR230.9898819561551418177930648413, 30648421-30648437
751GLB130.9631268436578275203433138503-33138577
752CRTAP30.69568822553897367120633155570-33155580, 33155587-33155604, 33155611-33155662, 33155685-33155709, 33155719-33155733, 33155745-33155923, 33155930-33155948, 33155954-33155994, 33156012-33156017, 33156029
753MLH130.999119330691332227137067345-37067346
754ABHD530.9542857142857148105043732485-43732531, 43744058
755TMIE30.7821350762527210045946742860-46742915, 46742928-46742964, 46743027-46743028, 46743040-46743044
756TMIE30.98513800424628747146743027-46743028, 46743040-46743044
757MYL330.99659863945578258846900984-46900985
758TREX130.9747747747747728111048508336, 48508412, 48508417, 48508420, 48508426-48508430, 48508451, 48508694-48508696, 48508888-48508902
759COL7A130.98811544991511105883548612857-48612881, 48612906-48612911, 48617469-48617482, 48620042-48620044, 48625269, 48625276, 48625281, 48625303-48625305, 48626762-48626763, 48627036-48627083, 48632566
760LAMB230.9924031869557241539749160341-49160344, 49162560-49162566, 49162799-49162808, 49162884-49162886, 49162902-49162917, 49169125
761AMT30.99834983498352121249454995-49454996
762GNAT130.82716049382716182105350229227-50229231, 50231243-50231249, 50231530-50231551, 50231619-50231654, 50232203-50232269, 50232278-50232283, 50232288-50232294, 50232305-50232336
763HYAL130.99541284403676130850338122, 50338486-50338488, 50338497, 50338504
764RFT130.9704797047970548162653156409-53156419, 53156425, 53156429, 53156434-53156437, 53156529, 53157763-53157792
765TKT30.9417735042735109187253264544, 53264558, 53289852-53289958
766HESX130.98387096774194955857232250, 57233802-57233809
767FLNB30.991804328339164780957994396-57994442, 57994470-57994477, 58116600, 58134038-58134042, 58134519, 58139138, 58145411
768PDHB30.994444444444446108058416474-58416475, 58419366-58419367, 58419410-58419411
769ATXN730.88548273431994325283863898275-63898599
770MITF30.9859245041586722156369788749-69788770
771PROK230.823076923076926939071830705-71830709, 71834122-71834185
772ROBO230.999516557892192413777530349, 77666814
773GBE130.997629208155525210981754656-81754657, 81810607-81810609
774PROS130.9803052683407240203193617388-93617394, 93619732, 93692532-93692558, 93692561, 93692568-93692569, 93692572-93692573
775ARL630.99286987522282456197487042-97487045
776CPOX30.84615384615385210136598311929-98311958, 98311965-98311968, 98312055-98312062, 98312069-98312078, 98312083-98312084, 98312111-98312114, 98312133-98312260, 98312285-98312291, 98312296-98312304, 98312315-98312322
777IQCB130.9988870339454621797121491458, 121547769
778CASR30.97497683039852813237121976167-121976174, 122003048, 122003109-122003147, 122003287-122003308, 122003325-122003329, 122003488, 122003629-122003633
779UMPS30.99792099792131443124462762-124462764
780RAB7A30.985576923076929624128525231-128525234, 128525240, 128525248, 128525259, 128525282-128525283
781ACAD930.996248660235871866128623311-128623316, 128623320
782GP930.8408239700374585534128780877, 128780880-128780881, 128780888-128780918, 128780943-128780965, 128781022-128781043, 128781052-128781057
783RHO30.98949379178606111047129251380-129251384, 129251388-129251393
784NPHP330.928124217380422873993132409383-132409387, 132409435-132409437, 132438549-132438554, 132438587-132438619, 132438631-132438673, 132440938-132440949, 132441002-132441006, 132441012-132441022, 132441031-132441199
785FOXL230.358974358974367251131138664434-138664455, 138664532, 138664563-138664582, 138664591-138665103, 138665110-138665137, 138665184-138665223, 138665245-138665250, 138665254-138665257, 138665351-138665392, 138665422-138665431, 138665466-138665477, 138665507-138665508, 138665515-138665532, 138665558-138665564
786PLOD230.99341238471673152277145804656-145804669, 145809666
787HPS330.9986733001658443015148847511, 148847516-148847518
788IFT8030.999570446735412328160099336
789BCHE30.9994472084024311809165491256
790GHSR30.9981834695731221101172165995-172165996
791SOX230.79664570230608194954181430149-181430153, 181430174-181430190, 181430196-181430248, 181430289-181430336, 181430381-181430385, 181430394-181430424, 181430471-181430472, 181430524-181430548, 181430614, 181430720-181430726
792EIF2B530.99353647276085142166183853248-183853251, 183853285, 183853289-183853296, 183853310
793ALG330.95899772209567541317183963013-183963015, 183966607-183966641, 183966656-183966671
794CLCN230.9966629588431692697184072088-184072089, 184075201, 184075429, 184075761, 184075764, 184075773, 184075780-184075781
795CCDC5030.99240855762595111449191047464-191047472, 191047487-191047488
796PDE6B40.98791423001949312565647932-647936, 657640-657659, 663866-663871
797IDUA40.627930682976557301962980873-980915, 980929-980988, 981645-981679, 981737, 994776-994777, 995516-995525, 995915-995949, 996162-996188, 996224-996273, 996520-996732, 996824-996945, 997133-997209, 997221-997244, 997343-997359, 997887, 998129-998141
798FGFR340.8879274824886727224271795662-1795682, 1795708-1795712, 1801196, 1801199-1801200, 1803113-1803143, 1803216-1803217, 1803347, 1803353-1803359, 1803393-1803403, 1803444-1803447, 1803611, 1803638-1803660, 1804682, 1804688, 1804699-1804704, 1806650-1806660, 1806664, 1807542-1807545, 1808295, 1808350, 1808355-1808364, 1808556-1808560, 1808566-1808578, 1808649-1808656, 1808856-1808863, 1808882-1808930, 1808937-1808945, 1808955-1808989
799SH3BP240.8842218632202521518572819951-2820117, 2826358-2826360, 2826435-2826438, 2831475, 2831550-2831551, 2834744-2834776, 2835502, 2835558-2835561
800HTT40.969243822250529094293076553-3076558, 3076569-3076575, 3076585-3076603, 3076604-3076738, 3076745-3076780, 3076797-3076815, 3123057, 3127349, 3149810, 3184108, 3184111, 3208345-3208348, 3213771-3213780, 3213786-3213807, 3234955-3234959, 3237017, 3240314-3240333, 3241645
801DOK740.8250825082508326515153465103-3465156, 3465233-3465278, 3475230-3475256, 3478069-3478088, 3478111-3478119, 3478209-3478212, 3494486-3494495, 3494583-3494589, 3494605-3494628, 3494642-3494651, 3494656-3494667, 3494706-3494709, 3494843-3494866, 3494890-3494893, 3495019-3495028
802DOK740.827411167512691025913494489-3494495, 3494583-3494589, 3494605-3494628, 3494642-3494651, 3494656-3494667, 3494706-3494709, 3494843-3494866, 3494890-3494893, 3495019-3495028
803MSX140.616228070175443509124861627-4861898, 4861935-4861971, 4862018-4862019, 4862024, 4862078-4862080, 4862085-4862094, 4864745-4864759, 4864793-4864801, 4864806
804EVC240.98955946014774139275570262-5570265, 5570303-5570319, 5578077-5578080, 5578089-5578101, 5710110-5710112
805EVC40.9251426653239322329795713108-5713270, 5750000-5750006, 5754728-5754736, 5800359-5800381, 5800468, 5809929-5809945, 5809977-5809979
806WFS140.965955854844749126736302898-6302903, 6303209, 6303324-6303329, 6303453-6303474, 6303526-6303552, 6303874-6303902
807SLC2A940.99507085643869816239922074-9922075, 9982287, 10020627-10020631
808CC2D2A40.9940366029200129486315482409-15482437
809PROM140.9942263279445715259815985899-15985900, 15985947-15985955, 15985961, 15985970, 15985977-15985978
810QDPR40.88435374149668573517513573-17513606, 17513627-17513677
811CNGA140.9811403508771943228047939845-47939846, 47954631-47954644, 47954652-47954658, 47973055, 47973065, 47973070-47973076, 47973090-47973092, 47973098-47973102, 47973115-47973117
812SGCB40.965517241379313395752904393-52904425
813PDGFRA40.999694189602451327055130013
814KIT40.9921528488570523293155524182-55524196, 55524240-55524246, 55602726
815SLC4A440.999695585996961328572306442
816ALB40.998907103825142183074274372-74274373
817COQ240.8952380952381121115584205704-84205743, 84205758-84205761, 84205765-84205773, 84205793-84205796, 84205808-84205810, 84205865-84205916, 84205926-84205934
818CDS140.9855699855699920138685504614, 85555045-85555052, 85555059-85555062, 85560145, 85569768, 85569775-85569779
819PKD240.82800137598899500290788928886-88929365, 88929385-88929387, 88929392-88929403, 88929417-88929419, 88929427, 88983116
820SNCA40.973995271867611142390756698-90756708
821MANBA40.98598484848485372640103610745, 103611838-103611840, 103681996-103682028
822CISD240.892156862745144408103808498-103808522, 103808569-103808587
823TACR340.97925608011445291398104640739-104640767
824CFI40.98687214611872231752110723105-110723127
825PITX240.993846153846156975111539440, 111542392, 111542411-111542413, 111542420
826ANK240.997557689068552911874114179489, 114179504-114179505, 114179518-114179539, 114213643, 114213647, 114223945, 114253205
827BBS740.9986033519553132148122775895-122775897
828MFSD840.99229287090559121557128859948-128859951, 128859959, 128859963-128859969
829NR3C240.998984771573632955149075975-149075977
830CTSO40.88405797101449112966156863545-156863585, 156863592-156863608, 156874946-156874999
831GLRB40.98527443105756221494158041712-158041726, 158041738-158041744
832GK40.97713598074609381662166199426-166199445, 166199512-166199518, 166199600-166199610
833SLC25A440.87625418060201111897186064527-186064637
834SDHA50.942355889724311151995218471-218523, 218529-218533, 224630-224636, 231111-231115, 233692-233694, 236556, 251466-251472, 254571-254602, 256509, 256514
835SLC6A1950.986351706036752619051213621-1213644, 1213663, 1213677
836TERT50.8443659899970652933991279518-1279524, 1280368, 1280371, 1293586, 1293630, 1294084-1294104, 1294249-1294250, 1294260-1294269, 1294273-1294276, 1294327-1294342, 1294479-1294490, 1294501-1294503, 1294518-1294520, 1294554-1294781, 1294886-1295104
837SLC6A350.977455716586154218631414806-1414807, 1414837-1414869, 1422080-1422086
838SDHA50.81345565749235613271593386, 1594510-1594569
839CCT550.999384993849941162610261752
840DNAH550.98450450450452151387513810216-13810254, 13810268-13810269, 13810301-13810325, 13810338-13810365, 13868100-13868101, 13871034-13871047, 13894831, 13894894, 13901479, 13901482, 13916465-13916564, 13919439
841ANKH50.9749830966869537147914871461-14871497
842FAM134B50.84002677376171239149416475086, 16616777-16616822, 16616833-16616843, 16616856-16616883, 16616895-16616914, 16616932, 16616949-16617080
843SLC45A250.996861268047715159333984567-33984568, 33984573-33984575
844AMACR50.9643167972149741114933998782, 34007912-34007941, 34007975, 34007985, 34007991-34007996, 34008004, 34008007
845NIPBL50.9939393939393951841537022408-37022409, 37036538-37036540, 37036580-37036589, 37048629-37048635, 37048660-37048681, 37048687, 37048696, 37048706-37048709, 37048767
846GHR50.999478351591031191742718969
847ITGA250.9968979131415711354652285328-52285338
848ERCC850.9412258606213370119160186759, 60200642-60200656, 60200662-60200665, 60240775-60240824
849SMN250.974011299435032388569359242-69359247, 69362945-69362961
850SMN250.974011299435032388570234666-70234671, 70238369-70238385
851HEXB50.88569718731299191167173981094-73981158, 73981179-73981183, 73981218-73981259, 73981266-73981306, 73981343-73981380
852AP3B150.99726027397269328577437051, 77523971, 77523986, 77563397-77563402
853ARSB50.80524344569288312160278280760-78281071
854VCAN50.9997056226081831019182868252-82868253, 82868375
855RASA150.94147582697201184314486564538-86564547, 86564549-86564553, 86564559-86564573, 86564784, 86564794, 86669980-86669989, 86669996-86670137
856MEF2C50.997890295358653142288057110-88057112
857GPR9850.994450610432851051892189854713-89854714, 89854730-89854734, 89981636-89981672, 89981681-89981687, 90021430, 90070025, 90074339-90074344, 90124874, 90144573-90144612, 90144638, 90149965-90149968
858WDR3650.98739495798319362856110436335-110436368, 110448773-110448774
859APC50.9998827941865918532112111326
860HSD17B450.9968340117593872211118814535-118814537, 118814548, 118814573, 118835073, 118861716
861HSD17B450.996453900709221282118861716
862ALDH7A150.9993827160493811620125904043
863LMNB150.888131743327651971761126113201-126113233, 126113259-126113263, 126113272-126113291, 126113322, 126113359-126113364, 126113380-126113511
864FBN250.983865430827331418739127614462-127614475, 127641281, 127645740-127645746, 127645756-127645800, 127873055-127873058, 127873067-127873072, 127873077-127873088, 127873123-127873129, 127873152-127873189, 127873210-127873216
865SLC22A550.93787335722821041674131705719, 131705789-131705807, 131705823-131705855, 131705883-131705916, 131705945-131705961
866TGFBI50.98927875243665222052135364770-135364774, 135364841-135364857
867MYOT50.9966599866399551497137206571-137206572, 137222951, 137223002-137223003
868SIL150.99855699855721386138282890, 138282894
869MATR350.97995283018868512544138651792-138651814, 138658481-138658482, 138658504-138658528, 138658542
870SRA150.98874824191288711139931629-139931636
871DIAPH150.959675307672171543819140953166, 140953267-140953292, 140953381-140953418, 140953446-140953484, 140953503-140953509, 140953531-140953536, 140953551, 140953563-140953591, 140953667-140953673
872POU4F350.95280235988201481017145719116-145719156, 145719322-145719325, 145719554, 145719559-145719560
873PPP2R2B50.99174174174174111332146077656-146077666
874SPINK550.9996955859969613285147503507
875ADRB250.99114331723027111242148206457-148206462, 148206586, 148207025, 148207633-148207635
876TCOF150.9997704315886114356149748427
877GM2A50.9707903780068717582150632820-150632828, 150639406-150639412, 150646961
878NIPAL450.96716630977873461401156887225-156887270
879NKX2-550.9107692307692387975172659731-172659737, 172659906-172659917, 172660050-172660058, 172660126-172660135, 172660182-172660197, 172661867-172661893, 172661903-172661908
880MSX250.85696517412935115804174151697-174151737, 174151778-174151795, 174151855-174151900, 174151911-174151920
881F1250.9415807560137534582176830255-176830274, 176830311-176830324
882F1250.924242424242421401848176830255-176830274, 176830311-176830324, 176830503-176830513, 176830559, 176830882-176830885, 176830912-176830944, 176830967-176830973, 176831016-176831027, 176831048-176831065, 176831251-176831257, 176831261, 176831347, 176831560-176831568, 176836519, 176836524
883PROP150.99853157121881681177419748
884NHP250.99783549783551462177580736
885GRM650.814730447987854882634178413861-178413871, 178413974-178413979, 178415975-178416004, 178416011-178416015, 178416020-178416030, 178421492, 178421507-178421553, 178421569-178421945
886SQSTM150.863945578231291801323179247937-179247959, 179247969-179248005, 179248016-179248130, 179248137-179248141
887FLT450.949902248289352054092180038336-180038345, 180043373-180043375, 180045793-180045828, 180045885-180045920, 180046035-180046037, 180046340-180046366, 180046759-180046769, 180047187-180047199, 180048769, 180051051-180051056, 180057709, 180076488-180076545
888FOXC160.26955475330927121416621610704-1610739, 1610750-1610925, 1610948-1610954, 1611044-1611050, 1611066-1611117, 1611135-1611209, 1611240-1611241, 1611265-1612061, 1612067-1612101, 1612120-1612125, 1612149-1612160, 1612167-1612168, 1612173-1612178, 1612310
889TUBB2B60.9207772795216710613383225149-3225161, 3225167-3225169, 3225185-3225192, 3225235-3225239, 3225255, 3225267, 3225392-3225394, 3225400, 3225405, 3225410-3225421, 3225442-3225475, 3225508-3225515, 3225601-3225605, 3227721-3227731
890DSP60.998839368616531086167542167-7542168, 7542307-7542311, 7578020, 7585975, 7585986
891TFAP2A60.9748858447488633131410398804-10398809, 10398816-10398822, 10404748-10404760, 10410339-10410342, 10410426, 10410435, 10410536
892DTNBP160.9479166666666755105615533473-15533474, 15627618-15627626, 15663057-15663100
893ATXN160.91952614379085197244816327394-16327399, 16327461, 16327504-16327535, 16327599-16327611, 16327635-16327643, 16327831-16327959, 16328019-16328025
894NHLRC160.99831649831652118818122672, 18122678
895ALDH5A160.89860352155434167164724495284-24495298, 24495334-24495364, 24495382-24495397, 24495421-24495428, 24495437-24495445, 24495466-24495475, 24495498-24495574, 24502814
896HLA-H60.7493333333333318875029855777-29855780, 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
897TNXB60.92120269569725152192931976913-31976929, 31977163-31977170, 31977388-31977394, 31977545-31977551, 31977786-31977792, 31977994-31978001, 31978498-31978517, 31979415-31979423, 31979439-31979483, 31979519-31979528, 31979626-31979639
898CYP21A260.92271505376344115148832006210-32006256, 32007404-32007410, 32008448-32008454, 32008689-32008693, 32008728-32008761, 32008865-32008877, 32008889-32008890
899TNXB60.983973603582372041272932009135-32009141, 32009648-32009664, 32009899-32009905, 32010123-32010129, 32010268-32010289, 32010520-32010526, 32010728-32010735, 32011900-32011906, 32012270-32012277, 32012293-32012336, 32012373-32012382, 32012480-32012486, 32063935, 32064082, 32064116-32064130, 32064314-32064327, 32064336-32064342, 32064558-32064562, 32064569-32064574, 32064653-32064656
900HLA-DQA160.6575520833333326376832605236-32605237, 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-DQB160.3333333333333352478632629137, 32629161-32629170, 32629189-32629202, 32629227-32629228, 32629746-32629806, 32629822-32629833, 32629844-32629891, 32629904-32629910, 32629929-32629938, 32632575-32632813, 32632820-32632844, 32634285-32634377, 32634383-32634384
902COL11A260.9773555939359118521133140079-33140081, 33140108-33140155, 33140331-33140337, 33140351-33140393, 33141678-33141685, 33141944, 33143384, 33159998-33160004
903SYNGAP160.87599206349206500403233388042-33388108, 33393575-33393680, 33405744, 33405831, 33405834, 33410893, 33410899-33410933, 33410946, 33410950, 33410985-33410991, 33411037-33411043, 33411316-33411319, 33411344-33411349, 33411389-33411393, 33411441-33411490, 33411505-33411698, 33411721-33411723, 33419609-33419611, 33419654-33419660
904FANCE60.93358162631906107161135420323-35420407, 35420495-35420509, 35420554-35420560
905TULP160.99631675874776162935479971-35479975, 35480025
906PEX660.9524294937139140294342946258, 42946443-42946444, 42946448, 42946456-42946465, 42946489-42946497, 42946508-42946526, 42946553-42946557, 42946590-42946602, 42946624, 42946627-42946631, 42946639-42946641, 42946647-42946666, 42946676-42946702, 42946732-42946739, 42946797-42946799, 42946804, 42946818-42946824, 42946829-42946833
907CUL760.9972532862468114509743008344, 43008347, 43008376-43008383, 43016157, 43016162, 43016167-43016168
908RSPH960.8688327316486210983143612836-43612864, 43612898, 43612904-43612917, 43612939-43612953, 43612967-43612998, 43613011-43613015, 43613024, 43613027, 43613044-43613054
909RUNX260.89272030651341168156645390345-45390346, 45390349-45390378, 45390384-45390396, 45390404-45390526
910MUT60.975144252108356225349403269-49403317, 49409645-49409651
911PKHD160.99770961145194281222551484039-51484059, 51929821-51929827
912EYS60.9979862215156319943566005885-66005891, 66200541-66200545, 66204575-66204581
913LMBRD160.9889094269870618162370410761, 70490427, 70506706, 70506729, 70506760-70506773
914COL9A160.999638467100511276670981388
915RIMS160.94683992911991270507972596742-72596774, 72889477-72889490, 72892030-72892031, 72892056, 72892129-72892134, 72892270-72892273, 72892277, 72892300-72892390, 72892397-72892420, 72892429-72892450, 72892474-72892478, 72892484-72892489, 72892511, 72892515-72892524, 72892696-72892704, 73001701-73001702, 73108758-73108796
916SLC17A560.9368279569892594148874363516-74363609
917MYO660.9958527734577516385876558139-76558153, 76623806
918LCA560.999522445081181209480196848
919SLC35A160.995069033530575101488182729-88182733
920SIM160.9995654063450712301100897257
921PDSS260.96833333333333381200107531754, 107780210-107780213, 107780273-107780301, 107780311-107780314
922SEC6360.9592641261498932283108243103-108243106, 108279090-108279097, 108279110-108279114, 108279125-108279180, 108279194-108279213
923OSTM160.856716417910451441005108375781-108375789, 108395577, 108395603-108395636, 108395714-108395715, 108395719-108395724, 108395735-108395771, 108395780-108395802, 108395824-108395855
924FIG460.9981644640234952724110053840-110053844
925COL10A160.99461576113558112043116441745-116441750, 116442360, 116442370-116442373
926GJA160.9956483899042651149121769110, 121769113-121769115, 121769120
927LAMA260.99583466837552399363129513906-129513907, 129513911-129513916, 129635899, 129635902, 129670505-129670510, 129670515-129670529, 129674418, 129674421, 129674425, 129691087-129691088, 129691119, 129775371-129775372
928ENPP160.951763858891291342778132129176-132129245, 132129261-132129267, 132129282-132129306, 132129367-132129372, 132172374, 132203494, 132203497, 132203537-132203548, 132203554-132203561, 132203568-132203570
929EYA460.9989583333333321920133777756-133777757
930PEX760.88374485596708113972137143804-137143868, 137143886-137143933
931PEX360.998217468805721122143792105-143792106
932STX1160.9155092592592673864144507802, 144507807-144507814, 144507927, 144507990-144507997, 144508103-144508147, 144508371-144508377, 144508437-144508439
933EPM2A60.72791164658635271996145956560, 146056334-146056603
934IYD60.9402298850574752870150719223-150719265, 150719309-150719317
935SYNE160.9956808365537611426394152451865, 152454563-152454568, 152485362-152485363, 152485374-152485375, 152485389-152485428, 152532670-152532674, 152540144, 152540149-152540159, 152540167-152540168, 152545736-152545745, 152545786-152545799, 152614799, 152631567, 152644686-152644687, 152644696, 152644701, 152644709-152644715, 152644719-152644724, 152702395
936PARK260.98283261802575241398161969939-161969943, 161969947-161969949, 161969952-161969955, 161969959-161969968, 162622248-162622249
937TBP60.876470588235291261020170871010-170871135
938LFNG70.6105263157894744411402559496-2559901, 2564365-2564377, 2564875-2564897, 2565110, 2565113
939PMS270.991116261104672325896013046-6013052, 6026905-6026911, 6027002, 6038811, 6045523-6045529
940TWIST170.4334975369458134560919156416-19156419, 19156428-19156430, 19156477-19156481, 19156546-19156555, 19156561-19156587, 19156640-19156707, 19156717-19156944
941DNAH1170.99506336575302671357221582963-21582966, 21583047-21583052, 21583153-21583197, 21630581-21630584, 21630602-21630603, 21630637, 21630919-21630922, 21939662
942DFNA570.9919517102615712149124742432-24742436, 24749911-24749914, 24758800, 24758803, 24758810
943HOXA170.989087301587311100827134162, 27135335-27135340, 27135413-27135415, 27135418
944HOXA1370.55955441302485514116727239054-27239059, 27239077-27239101, 27239109-27239118, 27239189-27239194, 27239202-27239205, 27239218-27239238, 27239255-27239696
945GARS70.9900900900900922222030634680-30634683, 30634697-30634714
946GHRHR70.999213836477991127231009565
947RP970.7717717717717715266633148833-33148984
948BBS970.999624624624621266433313511
949GLI370.93674889310563300474342004685-42004689, 42004820-42004822, 42005068-42005106, 42005115-42005127, 42005177-42005195, 42005214-42005256, 42005313-42005318, 42005528-42005534, 42005546-42005613, 42005628-42005643, 42005663-42005687, 42005840, 42005849-42005861, 42005867-42005883, 42005896-42005897, 42005946-42005963, 42006052-42006055, 42065848
950PGAM270.99081364829396776244104976-44104982
951GCK70.9543183440399764140144185216-44185220, 44185227, 44185236, 44186062-44186095, 44186103-44186125
952CCM270.9730337078651736133545039933-45039962, 45113126-45113131
953DDC70.9965349965355144350597002-50597006
954GRB1070.998879551820732178550682497-50682498
955EGFR70.9735755573905996363355086971-55087058, 55220279-55220282, 55220289-55220290, 55220296, 55220300
956GUSB70.998977505112472195665439348-65439349
957ASL70.9462365591397875139565551627-65551630, 65553816, 65553883-65553908, 65554078-65554079, 65554107-65554140, 65554263-65554270
958KCTD770.8344827586206914487066094052-66094195
959NCF170.898181818181828482572639983-72639989, 72640033-72640039, 72643608-72643648, 72643704-72643710, 72648672, 72648730-72648750
960ELN70.9645977011494377217573442518-73442519, 73442530-73442580, 73462861, 73466278-73466297, 73477663-73477665
961NCF170.78260869565217255117374193665-74193671, 74193757-74193763, 74197289-74197329, 74202352, 74202421-74202432, 74202903-74202954, 74202965-74202971, 74202995-74203048, 74203385, 74203402-74203474
962POR70.963289280469975204375609719-75609724, 75614230-75614240, 75614242-75614246, 75614444-75614470, 75614488-75614511, 75614910-75614911
963HSPB170.7605177993527514861875932068, 75932181-75932183, 75932189-75932190, 75932195-75932216, 75932235-75932242, 75932247-75932258, 75932269-75932277, 75932285-75932321, 75932338-75932391
964HGF70.9903978052126221218781399267-81399287
965AKAP970.99761173660867281172491609624-91609647, 91630444, 91682154, 91690711, 91736727
966KRIT170.998190863862514221191852145-91852148
967PEX170.9922118380062330385292157625-92157636, 92157647-92157664
968COL1A270.97512801755669102410194049548-94049575, 94049933-94049955, 94052289, 94052391-94052421, 94052427, 94056500-94056516, 94056583
969SGCE70.9845132743362821135694252649-94252662, 94259041-94259047
970SLC25A1370.995568685376669203195813620-95813622, 95951254-95951259
971TFR270.944305901911891342406100224516-100224526, 100224956-100224986, 100225020-100225026, 100229445-100229448, 100230655-100230676, 100230686-100230694, 100230903-100230904, 100231048, 100231105-100231106, 100238640-100238665, 100238712-100238715, 100238800-100238801, 100239101, 100239121-100239132
972RELN70.996338055314643810377103234912, 103244831-103244838, 103244881-103244884, 103244890-103244900, 103244907-103244911, 103417008, 103629741-103629744, 103629800-103629803
973SLC26A470.98762270593257292343107302112-107302117, 107323647-107323668, 107323966
974SLC26A370.9969498910675472295107432371-107432376, 107432381
975DLD70.9921568627451121530107556068-107556069, 107556078-107556087
976IFRD170.95132743362832661356112090786-112090833, 112102132-112102139, 112102148-112102149, 112102196-112102202, 112112911
977CFTR70.971640783254561264443117180239, 117188716-117188753, 117188760-117188800, 117188842-117188853, 117235006-117235007, 117235054-117235057, 117251725-117251729, 117251740-117251745, 117251792-117251796, 117251799-117251802, 117251805, 117251808, 117251813-117251818
978AASS70.9985616684645842781121769452, 121769519-121769521
979IMPDH170.882161800128034943-128034947, 128035062, 128035066-128035070, 128036662-128036667, 128045821-128045846, 128045854-128045874, 128045890-128045897, 128045905, 128045919, 128049510, 128049518-128049524, 128049810-128049824, 128049837-128049955
980FLNC70.974932746392762058178128470692-128470737, 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
981ATP6V0A470.99365834324217162523138394389-138394391, 138394481-138394487, 138437402, 138437409-138437411, 138437415-138437416
982BRAF70.97479356801391582301140434518-140434521, 140434570, 140494197-140494199, 140624366-140624371, 140624393-140624422, 140624490-140624503
983PRSS170.8951612903225878744142458414-142458440, 142458508-142458529, 142459664-142459682, 142459831-142459833, 142460366-142460372
984CLCN170.99292214357937212967143047472-143047492
985CNTNAP270.99724724724725113996145813975-145813985
986KCNH270.727011494252879503480150644101-150644142, 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
987PRKAG270.95789473684211721710151329155-151329224, 151573605-151573606
988SHH70.566594672426216021389155595594-155596115, 155596131-155596154, 155596200-155596213, 155596339-155596343, 155596384-155596420
989MNX170.279436152570488691206156798214-156798417, 156798454-156798481, 156798528-156798549, 156799261-156799271, 156799291-156799293, 156802372-156802405, 156802414-156802416, 156802436-156802473, 156802497-156802512, 156802515-156802545, 156802566-156803044
990CLN880.9883855981417108611719537-1719539, 1728661-1728667
991MCPH180.994417862838921425086299596-6299602, 6478975-6478976, 6478986-6478990
992GATA480.63431151241535486132911565838-11565897, 11565903-11565926, 11565978, 11565988-11566003, 11566013-11566016, 11566029-11566035, 11566041-11566379, 11566394-11566422, 11614523-11614528
993TUSC380.9894937917860611104715397973-15397979, 15398020-15398023
994ASAH180.9797979797979824118817928861, 17928868, 17941494-17941511, 17941517-17941520
995SFTPC80.962962962962962259422020952-22020956, 22021409-22021418, 22021472-22021478
996NEFL80.9203431372549130163224813043-24813044, 24813159-24813165, 24813230-24813237, 24813239, 24813246, 24813250-24813258, 24813404-24813438, 24813522-24813529, 24813569-24813574, 24813579-24813585, 24813644-24813651, 24813659-24813668, 24813684-24813711
997CHRNA280.9729559748427743159027320606-27320609, 27320746-27320749, 27320866, 27320869, 27320873-27320882, 27320986-27320989, 27321027, 27321030-27321032, 27321038-27321039, 27321050-27321061, 27321073
998ESCO280.998892580287932180627660944-27660945
999FGFR180.997157937474627246338271158-38271159, 38287326-38287330
1000ADAM980.9951219512195112246038854668-38854679
1001ANK180.97629083245522135569441525857-41525863, 41530252, 41530255, 41548043-41548045, 41550361-41550362, 41550380, 41552189-41552192, 41566441-41566447, 41575661, 41575664, 41583444-41583446, 41753879-41753915, 41753923-41753961, 41753971-41753998
1002HGSNAT80.92924528301887135190842995640-42995757, 43025807-43025821, 43025834, 43047533
1003CHD780.98610184567489125899461654454-61654464, 61654471, 61654478, 61654482-61654486, 61654502-61654509, 61654551, 61654712, 61713071-61713077, 61734356-61734392, 61734404-61734410, 61734463-61734479, 61734583-61734591, 61734598-61734604, 61734684, 61734694, 61778278-61778288
1004TTPA80.8279569892473114483763998399-63998424, 63998437-63998508, 63998527-63998534, 63998543-63998580
1005CYP7B180.9638395792241955152165527653-65527660, 65711072-65711078, 65711083-65711089, 65711098-65711130
1006EYA180.999437886453061177972129008
1007CA280.956577266922093478386376311-86376344
1008CNGB380.998765432098773243087590957-87590959
1009NBN80.9947019867549712226590996761-90996772
1010TMEM6780.9892904953145932298894777686-94777692, 94777807-94777812, 94777831-94777844, 94784858, 94811914-94811917
1011GDF680.67982456140351438136897156901-97156905, 97156977, 97157126-97157189, 97157199-97157284, 97157344-97157350, 97157354-97157363, 97157368, 97157406-97157579, 97157641-97157660, 97172676-97172681, 97172779-97172783, 97172811-97172831, 97172883-97172920
1012VPS13B80.995914623978664911994100050658, 100123345-100123348, 100123391-100123397, 100123401, 100123406-100123419, 100123459-100123463, 100454807, 100831031, 100831038-100831045, 100831053-100831054, 100874122, 100880581-100880584
1013RRM2B80.9905303030303101056103251088-103251097
1014DPYS80.908333333333331431560105478904-105478910, 105478931-105478976, 105478983-105479007, 105479019-105479068, 105479098, 105479102-105479107, 105479111, 105479120-105479126
1015TRPS180.999485199485223885116599473-116599474
1016TNFRSF11B80.9975124378109531206119964050-119964052
1017KCNQ380.932416953035511772619133492429-133492432, 133492505-133492511, 133492559-133492596, 133492620-133492625, 133492632-133492637, 133492664-133492779
1018TG80.99410136029854498307133881997-133882002, 133882008, 133882019, 133882025-133882026, 133882032-133882037, 133920568-133920585, 134031849, 134034270-134034276, 134125757-134125763
1019NDRG180.96118143459916461185134251153-134251156, 134251161-134251163, 134274296-134274334
1020SLURP180.974358974358978312143822633-143822640
1021CYP11B180.95634920634921661512143956396-143956399, 143957175-143957215, 143958513-143958533
1022CYP11B280.882936507936511771512143993946-143994003, 143994026-143994032, 143994069-143994096, 143994226-143994227, 143994275, 143994279, 143994748-143994754, 143994797-143994822, 143996536-143996559, 143998608-143998630
1023PLEC80.71732479544646397314055144990364-144990398, 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
1024GPT80.712273641851114291491145730630-145730651, 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
1025RECQL480.885580369451344153627145737909-145737915, 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
1026DOCK890.983650793650791036300214977-215029, 382562-382568, 382575-382577, 382581-382584, 433974-433975, 452051-452084
1027VLDLR90.975209763539286526222622190-2622223, 2622235-2622264, 2622271
1028KCNV290.8455433455433525316382717991-2718036, 2718208-2718213, 2718337-2718353, 2718390-2718415, 2718432-2718474, 2718567-2718569, 2718595-2718604, 2718725-2718769, 2718782-2718790, 2718931-2718943, 2718949-2718955, 2718964-2718991
1029GLIS390.9402076620121716727934117842-4117843, 4117957-4117965, 4118019-4118096, 4118195-4118211, 4118288-4118328, 4118342-4118348, 4118375-4118387
1030JAK290.992644895557522533995066759-5066763, 5066774-5066775, 5077472-5077475, 5077487-5077490, 5077513-5077518, 5090455-5090458
1031GLDC90.97094351942548930636645350-6645357, 6645361-6645365, 6645377-6645392, 6645404-6645410, 6645425, 6645433-6645484
1032CDKN2A90.98089171974522947121974702, 21974762-21974768, 21974772
1033CDKN2A90.954022988505752452221994197, 21994204-21994213, 21994221-21994227, 21994295-21994300
1034TOPORS90.995538559592114313832550926-32550934, 32550938, 32550953-32550956
1035APTX90.9893100097181711102932973551-32973561
1036B4GALT190.9398496240601572119733166756-33166757, 33166968-33166992, 33167099-33167143
1037GALT90.9754385964912328114034646732-34646735, 34646738, 34646744-34646749, 34646755-34646771
1038VCP90.999586947542341242135059134
1039FANCG90.997324772605675186935075022-35075024, 35078297, 35079493
1040TPM290.99883040935673185535685292
1041NPR290.9914122137404627314435792580-35792581, 35792594-35792601, 35792606-35792607, 35792613-35792616, 35792676, 35792685-35792688, 35793031, 35806418-35806422
1042GRHPR90.980749746707191998737422790-37422798, 37424853-37424862
1043FXN90.8404423380726710163371650716-71650774, 71650788-71650794, 71650819-71650826, 71650832-71650841, 71650847-71650863
1044TMC190.999123959702152228375369747, 75369750
1045TRPM690.999340912835724606977377964-77377967
1046VPS13A90.996115485564337952579840845-79840853, 79897038, 79897133-79897137, 79908385-79908388, 79908411-79908419, 79931196-79931202, 79933156, 79934499
1047AUH90.9764705882352924102094123987-94123994, 94124002-94124004, 94124034-94124042, 94124053-94124055, 94124112
1048ROR290.9735169491525475283294486174, 94495605-94495612, 94495715-94495716, 94712177-94712227, 94712233-94712245
1049PTCH190.94659300184162232434498209520, 98209658-98209659, 98268689-98268748, 98268789-98268793, 98268852-98268881, 98270475-98270487, 98270501-98270505, 98270509-98270537, 98270557-98270643
1050FOXE190.127450980392169791122100616197-100616294, 100616303-100616656, 100616666-100617025, 100617033-100617190, 100617197-100617203, 100617281, 100617284
1051TGFBR190.93584656084656971512101867488-101867584
1052ALG290.98880895283773141251101983917-101983927, 101984051, 101984061-101984062
1053INVS90.9996873045653513198103046743
1054FKTN90.99134199134199121386108370217-108370219, 108370231, 108380351-108380358
1055DFNB3190.908590308370042492724117240859-117240860, 117240863-117240864, 117240877, 117240885-117240886, 117266693-117266706, 117266734-117266738, 117266777-117266783, 117266789, 117266793, 117266799, 117266809-117266817, 117266837-117266906, 117266914-117266996, 117267013-117267049, 117267064-117267077
1056CDK5RAP290.99718409010912165682123169369, 123170726-123170729, 123171422-123171424, 123171429-123171433, 123301418-123301420
1057GSN90.96466581524053832349124062174-124062256
1058NR5A190.836219336219342271386127245153-127245183, 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
1059LMX1B90.763181411974982651119129376840, 129376844-129376845, 129376858, 129376862-129376867, 129377662-129377821, 129377831-129377848, 129453212-129453213, 129455544-129455560, 129456045-129456091, 129458143-129458146, 129458155-129458159, 129458164-129458165
1060STXBP190.97958057395143371812130374683-130374719
1061ENG90.95245321193728941977130587160-130587163, 130587170-130587174, 130587544, 130587582-130587583, 130587631-130587634, 130588015-130588040, 130588064-130588066, 130588075-130588076, 130588080-130588089, 130616583-130616605, 130616616-130616629
1062GLE190.98330948974726352097131267109-131267116, 131267127-131267139, 131267154-131267162, 131267167-131267169, 131267182-131267183
1063DOLK90.97959183673469331617131708939-131708942, 131709038, 131709221-131709224, 131709418-131709426, 131709440-131709441, 131709513-131709517, 131709522-131709525, 131709538-131709541
1064TOR1A90.85985985985986140999132586187-132586242, 132586277-132586360
1065POMT190.98163452708907402178134382807-134382812, 134394321, 134394799-134394819, 134394824-134394828, 134397455-134397461
1066SETX90.99589245705751338034135139846-135139850, 135139862-135139863, 135139867-135139868, 135139874-135139885, 135139890-135139896, 135139915-135139918, 135140189
1067TTF190.9985283296541642718135276846-135276849
1068TSC190.99427753934192203495135771933-135771937, 135771987-135772001
1069CEL90.835314839277853742271135937446-135937455, 135944192-135944198, 135944521-135944527, 135946487-135946493, 135946527-135946534, 135946648-135946967, 135946981-135946995
1070SURF190.88261351052049106903136223124-136223175, 136223276-136223329
1071ADAMTS1390.938375350140062644284136293754-136293891, 136295060-136295095, 136295166-136295190, 136301986, 136302000-136302007, 136302033-136302045, 136302056, 136302059, 136310932, 136320633, 136321745-136321783
1072DBH90.9983818770226531854136522278-136522279, 136523527
1073SARDH90.962277838229961042757136535743-136535752, 136568109-136568114, 136582557-136582577, 136597562-136597574, 136597661-136597665, 136597680-136597720, 136599234, 136599263-136599264, 136599291-136599295
1074COL5A190.97788653253581225517137534034-137534142, 137642705, 137686950-137686951, 137705844, 137705849-137705851, 137716512-137716515, 137726864, 137726982
1075LHX390.809760132340782301209139089275-139089276, 139089286, 139089289, 139089295-139089298, 139089354-139089359, 139089509-139089510, 139090648-139090654, 139090664-139090666, 139090754-139090771, 139090777-139090905, 139091549-139091553, 139094809-139094837, 139094845-139094867
1076INPP5E90.752454780361764791935139325454-139325461, 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
1077NOTCH190.892931664058428217668139390599, 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
1078AGPAT290.70848267622461244837139571070-139571072, 139571076, 139571440-139571469, 139571875, 139571922-139571964, 139581635-139581639, 139581649-139581809
1079SLC34A390.706111111111115291800140127045-140127047, 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
1080EHMT190.972542981780861073897140513481-140513501, 140605442-140605455, 140611078-140611110, 140611430-140611440, 140611445, 140637823-140637824, 140728829-140728830, 140728835, 140728845, 140729269-140729285, 140729292-140729293, 140729302, 140729309
1081SHOXX0.9021615472127486879595427-595450, 595465, 595547-595561, 605239-605284
1082CSF2RAX0.99616858237548513051422191-1422195
1083KAL1X0.970141948115526120438699983-8700019, 8700054-8700077
1084GPR143X0.928627450980399112759733619-9733665, 9733691-9733734
1085RPS6KA3X0.997750787224475222320179831-20179835
1086SMSX0.9554950045413349110121958943-21958991
1087ARXX0.75014801657786422168925025267, 25025294-25025307, 25031216-25031222, 25031275-25031287, 25031352-25031390, 25031407-25031415, 25031428-25031497, 25031544-25031812
1088RPGRX0.92165365712634271345938145349-38145396, 38145403-38145462, 38145474-38145483, 38145503-38145655
1089BCORX0.998671222475327526839923616-39923622
1090NYXX0.649377593361507144641332744-41332746, 41332820-41332825, 41332833-41333210, 41333228-41333254, 41333272-41333280, 41333430-41333479, 41333513-41333546
1091SYN1X0.8342776203966351211847433506-47433520, 47433529-47433535, 47433559-47433566, 47433613-47433659, 47433677-47433808, 47433816-47433840, 47433897-47433949, 47434115-47434123, 47478818-47478849, 47478999-47479013, 47479112-47479119
1092CFPX0.9773049645390132141047485741-47485748, 47488934-47488942, 47488975, 47488988-47489001
1093WASX0.9794565937707131150948547187-48547191, 48547196-48547207, 48547234-48547242, 48547382-48547383, 48547387-48547389
1094FGD1X0.9993069993072288654494287, 54497145
1095ARX0.94788273615635144276366765145-66765231, 66765573-66765578, 66766353-66766357, 66766367-66766412
1096DLG3X0.997555012224946245469665116-69665121
1097MED12X0.9902050811141764653470338611-70338617, 70338638-70338671, 70338681-70338703
1098TAF1X0.97254487856389156568270586165-70586318, 70617108-70617109
1099SLC16A2X0.9603691639522373184273641356-73641390, 73641400-73641413, 73641466-73641474, 73641485-73641489, 73641616-73641620, 73641684-73641688
1100BRWD3X0.9942688112405331540980064940-80064970
1101PCDH19X0.9897156684815534330699663554-99663587
1102HPRT1X0.9589041095890427657133594342-133594368
1103SLC9A6X0.95489078822412952106135067838-135067917, 135067937-135067951
1104ZIC3X0.888176638176641571404136648964-136648970, 136648981-136649015, 136651068-136651177, 136651220-136651224
1105SOX3X0.554809843400455971341139585893-139586018, 139586029-139586107, 139586114-139586135, 139586145-139586191, 139586212-139586368, 139586381-139586395, 139586416-139586485, 139586498-139586533, 139586631-139586637, 139586846-139586865, 139586927-139586936, 139587212-139587219
1106FAM58AX0.9551020408163333735152864467-152864480, 152864483-152864495, 152864516-152864521
1107SLC6A8X0.859538784067092681908152954030-152954291, 152959835-152959840
1108ABCD1X0.97721179624665512238152991097-152991103, 153008473-153008486, 153008675-153008688, 153008705-153008711, 153008981-153008987, 153009149, 153009152
1109L1CAMX0.99655537890832133774153136627-153136631, 153141271-153141278
1110MECP2X0.94455577822311831497153296202-153296222, 153363061-153363122
1111OPN1LWX0.95342465753425511095153409779-153409795, 153418521-153418544, 153420049-153420058
1112OPN1MWX0.872146118721461401095153448191-153448218, 153448278, 153453337-153453343, 153453446-153453453, 153453458-153453465, 153453474-153453495, 153455586, 153455590, 153455598, 153455651-153455676, 153457179-153457188, 153457286-153457309, 153458921-153458923
1113OPN1MWX0.814611872146122031095153485309-153485336, 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
1114FLNAX0.984390735146021247944153599253-153599288, 153599377-153599410, 153599418-153599424, 153599447-153599478, 153599582-153599588, 153599606-153599613
1115EMDX0.994771241830074765153607893-153607896
1116GDI1X0.98958333333333141344153665632-153665645
1117G6PDX0.998168498168531638153760603-153760605
1118IKBKGX0.95765027322404621464153788642-153788687, 153788732-153788747
1119USP9YY0.997261345852921766814890082-14890095, 14890106-14890112
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3MYO1A-G662Ehet unknown0.026Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
2SLC2A4-V383Ihet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1.5EDNRB-Y293Shifthet unknownComplex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5MTHFR-A222Vhomozygous0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1.5PIGR-A580Vhet unknown0.248Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
1.5PIGR-T555Ihet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
1.25FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1.25FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
1.25ABCA4-S2255Ihet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25ABCA4-G1961Ehet unknown0.003Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
1.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25COL7A1-P2847Shifthet unknownRecessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.25COL7A1-R2835Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
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
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP2D6-P34Shomozygous0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CC2D2A-E229Delhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG1L2-L157ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPRM1-N40Dhomozygous0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OPRM1-Q402Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1PCSK1-S690Thomozygous0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1CLNK-P31Lhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALPK1-T458Ahomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ALPK1-H642Rhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALPK1-S710Fhomozygous0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
1ALPK1-M861Thomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
1CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
1NM_001145710-Q302ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1BRCA2-T1915Mhet unknown0.021Unknown
protective
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1NEK3-Q293ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1VPS11-L73ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VPS11-K887Rhet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CD3G-V131Fhomozygous0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PPT1-M57Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V1188Ehet unknown0.062Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CILP-G1166Shomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GLI3-R1537Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-G1336Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1APOE-R176Chet unknown0.068Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BLMH-E381Khet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-T1660Ihomozygous0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1NR_027242-L114PhomozygousUnknown
not reviewed
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
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhomozygous0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG4-G279Ehomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1TOR1A-D216Hhet unknown0.103Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SRRM3-R579ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EXD3-R653Chomozygous0.036Unknown
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-R220Qhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1EXD3-R20Qhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-I883Mhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-V825Ihomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRE-P437Lhomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1GABRE-S102Ahomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-T33ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDIA2-P382Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC6A-N185Khet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5TNRC6A-A592Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TNRC6A-P788Shet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TNRC6A-Q1112Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MKL2-E204Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCH1-P1315Lhet unknown0.296Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PTCH1-T1195Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), 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
0.5CIITA-L45Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CIITA-R174Ghomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CIITA-G500Ahomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CIITA-V782Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CIITA-Q900Rhomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPT1-G80Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_027336-P160Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5FANCA-M717Ihet unknown0.022Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-A322Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-P55Lhet unknown0.051Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACIN1-S643SHShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S643SHShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S467Phomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-N20Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1447Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPPP2-Y165*het unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RPGRIP1-P96Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5CR623477-Q168QRShet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-Q139Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR623477-V134Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CR623477-V134Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CR623477-A133Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CR623477-Y67Hhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL50-L127Fhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5PYGO1-R405Hhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCNDBP1-I277Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-P156Lhet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-A185Vhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5KCNJ12-Q192Hhet unknown0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5LINGO2-T59Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-V4469Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ZNF559-D18Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TYK2-I684Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-V1183Mhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A1020Phet unknown0.112Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NPHP4-R1294Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAIR2-R76*het unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAIR2-H112Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ELSPBP1-G61Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-R73Chet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5ELSPBP1-P185Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-N27Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CD3EAP-Q504Khomozygous0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5SIX5-P635Shomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-S447Lhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX11G-L216Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PEX11G-C91Whet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HILS1-G229Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HILS1-Y148Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRTAP2-1-R59Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SPACA3-M182Vhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5NR_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
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SNAPC3-E398Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XYLT2-T801Rhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SCN4A-N1376Dhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEP1B-W285*het unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MEP1B-P695Lhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWC2-A120Ghomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWC2-P148Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCRIB-H1217Phet unknown0.012Unknown
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 unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5DSG2-T745Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-R515Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-E689Khet unknown0.030Complex/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-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGGT2-H1381Rhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-S328Ahet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROZ-R295Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EXO1-F483Chet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EXO1-R723Chomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5AGT-M268Thomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ARID4B-D293Ghet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R3Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ARMS2-A69Shet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MKI67-I2101Thet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-R832Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-G216Ehet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5MKI67-N104Shet unknown0.611Unknown
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
0.5RASSF7-P89Ahet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TACC2-R960Khet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1215Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TACC2-P1492Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-E1916Khet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-G2730Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TACC2-A2732Thet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZDHHC6-R18Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 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 unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5UBA1-R447Hhomozygous0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR65-N241Dhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5WDR65-C345Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5ALG6-S306Fhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5RNF207-A95Vhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-A421Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5KIAA2013-C400Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGEF19-R633Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-R1729Whet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN15-G19Dhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TSEN15-Q59Hhomozygous0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-L801Fhomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhet unknown0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPAG17-R143Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DARS2-G338Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTSD-A58Vhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADM-S50Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LYZ-T88Nhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-E201*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5KIF21A-L1088Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-G1405Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LILRB1-A309Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5FARP1-H644Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK131516-R31*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5HPD-V340Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahet unknown0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTUS2-T367Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR2A-H452Yhomozygous0.109Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.489 (possibly damaging)
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MADD-R765Qhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5RAPSN-V138Ihet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5MICALCL-V70Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-A305Thomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALCL-S313Ghet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5MICALCL-T471Phet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.331 (possibly damaging)
0.5MICALCL-R671Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5INSC-R274Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPTY2D1-R447Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5NDUFS3-E85Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MS4A2-E237Ghet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5MMP27-D447Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5MMP27-W304Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5MMP27-E266Vhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP27-M30Vhet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5MMP27-T24Mhet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DYNC2H1-Q304Lhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-S99Ghet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARRDC1-N287Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARRDC1-G363Chet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.177 (benign)
0.5CDC42BPG-Q1135Rhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CDC42BPG-A1048Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5MEN1-T546Ahomozygous0.908Unknown
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 unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MS4A5-G51Ehet unknown0.041Unknown
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 unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK-V1274Ahet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RCOR2-K240Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LIFR-D816Ghet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TERT-I589Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT1-K4059Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S3554Ahet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-M2845Ihet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAT1-H1273Rhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Y1250Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAT1-R1064Ghet unknown0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BBS12-R386Qhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBM46-I126Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5F11-E135*het unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5OSMR-G578Dhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5HEATR7B2-L1179Phet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-V496Ihomozygous0.869Unknown
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)
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H2AFY-A168Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DPYSL3-G399Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DMXL1-M1589Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SLCO6A1-R646Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-T689Ahet unknown0.006Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.862 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghet unknown0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N6157Shet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PON1-L55Mhomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1109-I978Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HTT-I1091Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5RGS12-M277Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.073 (benign)
0.5RGS12-R633Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5IDUA-R105Qhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLDN16-R55Shifthomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRSS1-K170Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRSS1-C171Yhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-R568Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A3-S400Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A3-R399Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CENPE-S1911Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CENPE-T1268Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPE-S851Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZSCAN5B-V208Ihet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZSCAN5B-S8Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CCDC158-R134Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5LRGUK-R528Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TLR1-S602Ihomozygous0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.434Unknown
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-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIT-T274Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC63-T676Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests
0.5RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STX11-V267Mhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TREML2-S144Ghet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.831 (possibly damaging)
0.5TREML2-R69Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TREML2-A68Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HSP90AB1-R604Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP12-K117Ehet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.025Unknown
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 unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A4322Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWDE-F1485Chomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POR-A503Vhet unknown0.234Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA0415-L375Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknown0.375Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIF6-W719Rhomozygous0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-F153Chet unknownUnknown
not reviewed
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
0.5HLA-A-F33Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-F33Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-G80Rhet unknown0.078Unknown
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-K168Qhomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-D185Ehomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-T187Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-A-I312Lhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-L318Fhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-T323Ahet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-A-T345Shet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-A-V358Mhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-F-K56EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-V57GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-G62Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-D123Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-M126Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-S128Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLT4-T494Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
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
0.5AKAP9-K386Nhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNMB1-E65Khet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5RNF39-A304Ehomozygous0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RNF39-S203Phomozygous0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A210Thet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P1722Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC39A7-G124Rhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5BTNL2-S360Ghomozygous0.392Unknown
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 unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TNXB-V3875Ihomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-M89Thet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP21A2-R103Khet unknown0.229Unknown
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
0.5AGPAT9-R386Khet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.068Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGXT-A295Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC18A1-I136Thet unknown0.809Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC18A1-Q10Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC18A1-T4Phet unknown0.284Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROBO1-P1188Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-E506Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HR-T13Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CXCR1-R335Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-S18Ghomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5CBS-R369Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UMODL1-M559Thomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UMODL1-S689Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UMODL1-R691Ghomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-T741Phomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-I767Thomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-T826Phet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-V978Ihet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UMODL1-D1336Nhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.5LPIN3-R61Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SALL4-L507Rhomozygous0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5SLC3A1-Y461Hhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SIX3-T316Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-E489Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OXER1-T128Mhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF772-M218Lhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF772-C182Whet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF772-W41*het unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-R3638Qhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous1.000Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-D1113Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAM3A-G372ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-N302Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-R215Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAM3A-F185Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V3964Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAT1-R588RERhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-I94Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S20650Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R13340Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T6951Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A12-R473Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5018Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S3875Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5G6PC2-Y207Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5G6PC2-V219Lhet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5G6PC2-S342Chet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATG16L1-T300Ahomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5KIAA1671-P818Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-V1198Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.832 (possibly damaging)
0.5ITPR1-V494Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAIAP2L2-M411MTPMhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BAIAP2L2-M411MTPMhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BAIAP2L2-S406Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5FLNB-D1157Nhomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.749Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ROBO2-D215Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5GGT5-E466Khet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGT5-K330Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGT5-A42Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PPARA-L162Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign)
0.5SLC22A13-R449Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XRCC3-T241Mhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CUL7-Q813Rhet unknown0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR2-Q2958Rhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-Q509Rhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25FLG-E2976Dhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-N46Shet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-E38Khet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25TTBK2-L8Phet unknown0.469Unknown
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
0.25PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALG8-N222Shet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.544Unknown
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 unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25C17orf55-V50Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf55-A49Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DSP-Y1512Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC2-I776Vhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR56-Q306Hhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICA-W37Ghet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.314Unknown
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 unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCM-S175Fhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLH1-I219Vhet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25DOK7-G461Dhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25SLC2A9-G25Rhomozygous0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
0MBL2-R52Chet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0CEP290-D983Shifthet unknownRecessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0SLC5A2-N654Shet unknown0.007Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.776 (possibly damaging), Testable gene in GeneTests

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

Gene search

"GENE" or "GENE A123C":

Log in