huE80E3D - GET-Evidence variant report

Variant report for huE80E3D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CPT2-S113LHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.00092954This is the most common variant associated with late-onset carnitine palmitoyltransferase deficiency, which is classically viewed as recessive.1
2SPG11-K1013EHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0104109One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).1
3TREM2-R47HHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00195204Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50).1
4CC2D2A-G776RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000506585Unreported, predicted to be damaging. Other recessive mutations in this gene cause Joubert Syndrome and Meckel Syndrome.1
5PHKB-M185IModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0105116Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.1
6SLC6A5-T425MModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
9.2954e-05This variant is associated with hyperekplexia (a disorder of excessive startle reflect and stiffness), seen homozygously in a single family in a screen of 79 unrelated cases and not seen in 400 control chromosomes. This is not enough data to establish statistical significance, but the authors did find functional data supporting this variant as having an severe effect on the gene product.1
7CYP1B1-R368HModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00149617This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.1
8FCN3-L117ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0234375Speculated to cause immunodeficiency in a patient with serious, repeated infections. A large set of patients was examined (1282) and this variant is not extremely rare (1.1% allele frequency), and so this single observation had no statistical significance. Additionally, if this phenotype is relatively rare (1% or less), then a strong disease effect in homozygotes should have resulted in many more homozygotes in the patient cohort. The lack of this observation casts significant doubt on any pathogenic hypothesis.1
9PIGR-A580VLowLikelyLikely pathogenic

Complex/Other, Homozygous
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
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
11MTRR-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
12BMP4-R287HLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00130136Seen in a single Pennsylvania father/son pain associated with cleft lip & palate or less dramatic microform or orbicularis oris muscle defects in a dominant manner. The variant is extremely rare (around .1% allele frequency) and so the case/control data fails to establish statistical significance.1
13ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
14TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
15POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
16HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
17ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
18WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
19DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
20SP110-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
21ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
22OCA2-A481TLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00148726This variant is associated with lower melanin production and may result in less pigmentation in skin or eyes. The variant is suggested to play a role in oculocutaneous albinism when combined with more severe variants, but these findings lack statistical significance.1
23rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
24FUT2-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
25CCR5-S185ShiftLowWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.047619Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains.1
26TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
27KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
28MC4R-V103ILowUncertainUncertain protective

Unknown, Heterozygous
0.016174This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals. 1
29TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
30SLC45A2-E272KLowLikelyLikely benign

Unknown, Heterozygous
0.0290946Pigmentation allele for black hair in Caucasian population.1
31OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
32PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
33PKP2-D26NLowLikelyLikely benign

Unknown, Heterozygous
0.00485625Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age).1
34CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
35MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
36RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
37OTOF-R822WLowUncertainUncertain benign

Unknown, Heterozygous
0.0180678Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness.1
38APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
39MSH6-V509ALowUncertainUncertain benign

Unknown, Heterozygous
0.00092954Despite being predicted to have a damaging effect on a mismatch repair gene, this variant has shown no significant association with cancers (endometrial & colorectal, which are associated with mutations in this gene). It is probably benign; if it has any pathogenic effect it is weak.1
40JAG1-N1110TLowUncertainUncertain benign

Unknown, Heterozygous
0.000185908Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2. Other damaging variants are reported to cause Alagille syndrome in a dominant manner.1
41FANCA-S1088FLowUncertainUncertain benign

Unknown, Heterozygous
0.0584681Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.1
42DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
43NDRG1-R325WLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner.1
44DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
45FMO3-V257MLowUncertainUncertain benign

Unknown, Heterozygous
0.0570738This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.1
46NTRK1-H604YLowUncertainUncertain benign

Unknown, Heterozygous
0.0431307Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.1
47PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
48TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
49TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
50TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
51PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
52PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
53COL6A3-T492SLowUncertainUncertain benign

Unknown, Heterozygous
0.00204499Probably benign.1
54SLC45A2-L374FLowUncertainUncertain benign

Unknown, Heterozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
55AARS-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
56NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
57COL6A3-D491HLowUncertainUncertain benign

Unknown, Heterozygous
0.00176613Probably benign.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31701435 / 33282720 = 95.25%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7689801238188314186138955553-955753, 957637-957642, 957828, 976048-976049, 976068, 976073-976074, 976081-976082, 976107-976148, 976162-976176, 976185-976260, 976553-976674, 976683-976691, 976697-976699, 976705, 976710, 976716-976729, 976734-976736, 976763-976777, 976858-976882, 976886-976887, 976891-976892, 976940-976944, 976950-976956, 976966-976969, 977077-977082, 977512-977525, 978715-978718, 978721, 978736, 978744-978749, 978773, 978777, 979044, 979057, 979061, 979352, 979361, 979377, 979391-979392, 979396-979403, 981777-981783, 981792-981803, 981812-982015, 982021-982025, 982254, 982272, 982277, 983013, 983163-983183, 983204-983207, 983392-983396, 983414-983420, 983436-983439, 983450-983519, 983529-983745, 984256, 984319, 984322, 984326, 984330, 984343-984353, 984362-984367, 984681-984692, 984694, 984702, 984707, 984807, 984811, 985175, 985336-985338, 985373-985398, 985413-985417, 985613-985614, 985629-985634, 985644-985649, 985659-985663, 985667-985670, 985677-985693, 985706-985709, 986217, 986667-986672, 986677-986688, 986705-986713, 986833-986837, 986845-986847, 986870-986872, 986929-986969, 987002-987011, 987108-987109, 987194-987195, 990315-990349
2GABRD10.94113318616638013591950863-1950930, 1961190-1961195, 1961460, 1961465, 1961490, 1961499, 1961612-1961613
3PEX1010.830784913353721669812337923-2337925, 2337928, 2337932, 2337934-2337947, 2337951, 2337983, 2337990-2337991, 2338177, 2338262-2338268, 2338281-2338285, 2339978-2339982, 2340000-2340002, 2340011-2340019, 2340217, 2343830-2343941
4NPHP410.9731371174959111542815934533, 5934547-5934548, 5934568-5934574, 5935059-5935100, 5935117-5935127, 5935137-5935147, 5937246-5937260, 5937263-5937265, 5937276-5937278, 5951023, 5964747, 5964765-5964767, 6008133-6008147
5ESPN10.55399610136452114425656485016-6485234, 6485243-6485248, 6485253, 6485256-6485260, 6485265-6485275, 6485282-6485288, 6485300, 6500421-6500500, 6500686-6500868, 6500994-6501000, 6501017-6501066, 6505776-6505820, 6505842-6505923, 6505931-6505937, 6508701-6508717, 6508731-6508776, 6508779, 6508785, 6508788-6508791, 6508809-6508811, 6508816-6508817, 6508823-6508857, 6508862, 6508873-6509068, 6509074-6509108, 6511953-6511959, 6520064-6520113, 6520162-6520203
6PLEKHG510.8588899341486445031896527995, 6528024-6528027, 6528082, 6528085, 6528091, 6528101, 6528257-6528260, 6530632-6530643, 6530795-6530811, 6530820-6530889, 6530910-6530935, 6530943-6530944, 6531084-6531095, 6531160, 6531563-6531564, 6531590-6531592, 6531685, 6531830-6531832, 6531839, 6532630, 6532654-6532656, 6533410, 6534073-6534224, 6534511-6534616, 6534626, 6534629-6534647, 6557380-6557383
7KIF1B10.99830604178439531310292392, 10357020, 10357023, 10381791-10381794, 10425483, 10425561
8PEX1410.993827160493837113410684439, 10684445-10684446, 10684465-10684466, 10684469, 10690027
9TARDBP10.9919678714859410124511073890-11073899
10MASP210.998059194565744206111087585, 11094885-11094886, 11105517
11MTHFR10.99746321664135197111861356-11861360
12PLOD110.9935897435897414218411994840-11994849, 11994873-11994876
13MFN210.9929639401934916227412052732-12052746, 12069687
14CTRC10.982651796778191480715771137, 15771141, 15771155-15771166
15CLCNKA10.91375968992248178206416349137, 16353045-16353051, 16353086-16353108, 16353192-16353240, 16353248-16353252, 16353260-16353269, 16353846-16353874, 16357037-16357043, 16357144-16357150, 16358205-16358209, 16358268-16358274, 16358746, 16358752, 16358758-16358768, 16358779-16358783, 16358786, 16359727, 16360134-16360141
16CLCNKB10.94476744186047114206416370996-16371030, 16373044-16373050, 16378308, 16378774-16378783, 16378851-16378887, 16381978-16381987, 16383392-16383405
17ATP13A210.96923511148744109354317313306, 17313570-17313577, 17313587-17313618, 17313646-17313654, 17313667-17313680, 17314728, 17320256-17320264, 17322607, 17323637-17323645, 17326593-17326602, 17326743, 17326751, 17326795, 17326798-17326802, 17327001-17327006, 17332258
18ALDH4A110.9929078014184412169219200964, 19202917, 19203939-19203945, 19228987, 19228992, 19228995
19PINK110.77835051546392387174620960042-20960428
20ALPL10.9853968253968323157521900213, 21903879-21903889, 21903892-21903898, 21904084, 21904106-21904108
21HSPG210.976472374013363101317622149825-22149832, 22149840, 22149843-22149844, 22149864-22149865, 22149868-22149873, 22155548-22155552, 22159981-22159985, 22165385, 22165388-22165393, 22165416-22165419, 22166346-22166379, 22167683-22167684, 22181412-22181435, 22181797-22181810, 22182037-22182071, 22182128-22182129, 22182139-22182142, 22182163-22182164, 22191526-22191530, 22191559, 22198837-22198839, 22198844, 22198863-22198864, 22199113-22199119, 22199126-22199138, 22199143-22199145, 22199159-22199177, 22199190, 22199245, 22199496-22199526, 22207002-22207004, 22263648-22263710
22WNT410.9270833333333377105622469339-22469415
23GALE10.9875835721107913104724122659-24122663, 24122672-24122673, 24122677-24122680, 24122706, 24122755
24FUCA110.9600285510349756140124194390, 24194393-24194403, 24194430-24194436, 24194451-24194464, 24194482-24194484, 24194488-24194491, 24194503-24194507, 24194732-24194740, 24194768-24194769
25LDLRAP110.899676375404539392725870190-25870277, 25880438-25880441, 25893454
26SEPN110.89028776978417183166826126722-26126904
27HPCA10.884879725085916758233354834-33354841, 33359145-33359169, 33359369-33359370, 33359393, 33359406-33359411, 33359414, 33359419-33359425, 33359432-33359437, 33359441-33359442, 33359450-33359458
28GJB410.99875156054931180135227527
29ZMPSTE2410.999299719887961142840737604
30COL9A210.9690821256038664207040768345, 40769222-40769224, 40769235, 40769247, 40769288, 40769496-40769501, 40777338-40777379, 40781296-40781301, 40781304-40781305, 40781308
31KCNQ410.82375478927203368208841249766-41250004, 41250030, 41250048, 41284249-41284254, 41284261, 41284263-41284266, 41284275-41284283, 41284301-41284311, 41284321-41284332, 41289816-41289818, 41296756, 41296770, 41296802-41296805, 41296972, 41303393, 41303983-41304011, 41304038-41304080, 41304170
32CLDN1910.957037037037042967543201572, 43201578-43201580, 43201586, 43201664-43201676, 43203907-43203915, 43203930-43203931
33LEPRE110.8887381275441246221143212426, 43212431, 43232264-43232276, 43232278-43232282, 43232298-43232302, 43232330-43232338, 43232346, 43232350, 43232372-43232404, 43232413-43232536, 43232572-43232620, 43232630-43232632, 43232636
34SLC2A110.9885057471264417147943396366, 43424305-43424320
35MPL10.9795597484276739190843806173-43806174, 43806177, 43814527-43814529, 43814943-43814952, 43814964, 43814969-43814978, 43814985, 43814988-43814996, 43815003, 43815008
36UROD10.99637681159424110445478810-45478813
37MUTYH10.9802421924792931156945797130, 45797133, 45797136-45797163, 45799226
38MMACHC10.99528857479388484945974490-45974492, 45974867
39POMGNT110.996469994957147198346659528, 46660229, 46660232, 46660261-46660263, 46660583
40STIL10.9953452288595818386747725984-47725987, 47737858-47737860, 47737863, 47737867, 47737870-47737873, 47737877, 47737881-47737884
41ORC110.997293116782687258652838928, 52851529-52851533, 52851539
42CPT210.9919069296914516197753662616-53662623, 53662638-53662642, 53662646-53662647, 53662693
43DHCR2410.84526112185687240155155340767-55340774, 55341698, 55352562-55352792
44BSND10.99169262720665896355464869-55464876
45PCSK910.94131794131794122207955505523, 55505543, 55505546, 55505549-55505555, 55505570-55505590, 55505709-55505710, 55509596-55509621, 55509685, 55521666-55521669, 55521688, 55521697, 55521714-55521754, 55521772, 55524259-55524271, 55529193
46ALG610.9875816993464119153063870134, 63881583-63881593, 63894663-63894669
47CTH10.994252873563227121870883670-70883672, 70883683, 70883691, 70895522-70895523
48ACADM10.9866979655712117127876200508-76200524
49RPL510.98210290827741689493307382, 93307385-93307391, 93307404-93307405, 93307413-93307417, 93307420
50ABCA410.9942832014072139682294461683-94461686, 94461691, 94467418-94467423, 94497403, 94497410, 94497416-94497423, 94497431, 94497444-94497449, 94497492-94497502
51DPYD10.9964262508122211307897847981-97847983, 97981369, 98187217-98187223
52AGL10.99673842139596154599100336361, 100342064, 100342067-100342072, 100347143, 100377968-100377971, 100377975, 100377980
53DBT10.98895790200138161449100706352-100706367
54COL11A110.951805021073852635457103363693-103363717, 103364222-103364261, 103364275-103364292, 103364298-103364302, 103364322-103364329, 103364497-103364550, 103380290, 103380313, 103388905, 103404634-103404641, 103412423, 103412462, 103427754-103427755, 103431074-103431088, 103435775-103435780, 103435790-103435800, 103435816-103435828, 103440417, 103440420, 103461562-103461567, 103470181, 103471629, 103471837-103471839, 103471850-103471854, 103471858-103471859, 103471863-103471868, 103477987, 103477991, 103477994-103477995, 103483392-103483402, 103488324, 103488382-103488385, 103488393, 103488397, 103496792-103496795, 103548411
55GSTM110.13394216133942569657110230496-110230531, 110230792-110230813, 110230830-110230867, 110231295-110231304, 110231307-110231310, 110231313-110231322, 110231333-110231351, 110231354-110231358, 110231670-110231695, 110231701-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235862-110235896, 110235913-110235917
56NGF10.9765840220385717726115828716-115828720, 115828868-115828878, 115829247
57VANGL110.9961904761904861575116206500-116206505
58CASQ210.9966666666666741200116269640-116269643
59HSD3B210.9991063449508511119119962123
60NOTCH210.9878640776699907416120506223, 120539684-120539690, 120539778-120539784, 120539936, 120547962-120547968, 120611949-120611989, 120611995-120612020
61HFE210.9968774395003941281145415385-145415388
62PRPF310.999512670565312052150315925
63FLG10.9285245363531987112186152276109-152276115, 152276146-152276175, 152276282, 152276298, 152276303, 152276383-152276389, 152276441-152276447, 152276465-152276493, 152276583, 152276589, 152276616, 152276626-152276628, 152276656-152276702, 152276723-152276750, 152276759-152276775, 152276823, 152277011-152277058, 152277081-152277088, 152277143-152277182, 152277396, 152277401, 152277433, 152277437-152277439, 152277551-152277591, 152277693-152277720, 152278044-152278052, 152278083-152278096, 152278431-152278437, 152278552-152278558, 152278665-152278692, 152279016-152279022, 152279055-152279068, 152279403-152279409, 152279524-152279530, 152279743, 152279778-152279784, 152280019-152280035, 152280347, 152280372, 152280468-152280474, 152280556-152280562, 152280570-152280630, 152280643-152280649, 152280691, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281004-152281042, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281578-152281592, 152281621-152281649, 152281684-152281714, 152281943, 152281948, 152281981-152281994, 152284149-152284155, 152284194-152284212, 152284239-152284252, 152284546-152284552, 152284803-152284817, 152285134-152285140, 152285977-152286005
64TPM310.99883449883451858154148647
65CHRNB210.96686547382372501509154540530-154540560, 154544341, 154544351-154544352, 154544385-154544387, 154544390-154544394, 154544407-154544414
66PKLR10.98898550724638191725155264448-155264450, 155269985, 155269990-155270001, 155270018-155270019, 155270048
67LMNA10.9823633156966510567156105080-156105083, 156105752-156105757
68LMNA10.9859649122807281995156084725-156084726, 156084729, 156105080-156105083, 156105752-156105757, 156108303-156108314, 156108356-156108358
69SEMA4A10.9825021872266402286156131140-156131146, 156131218-156131221, 156146520, 156146532-156146555, 156146564-156146567
70NTRK110.950648264324551182391156830727-156830792, 156830805-156830807, 156830810, 156830813-156830819, 156830821-156830826, 156830836-156830850, 156830859-156830863, 156830873-156830878, 156830915-156830917, 156834202-156834206, 156851320
71ATP1A210.9964087495919113063160085657-160085663, 160093102-160093105
72PPOX10.9951185495118571434161136674, 161136678, 161136682-161136686
73MPZ10.9626769626769629777161275670, 161275898-161275906, 161279647, 161279664-161279673, 161279681, 161279684-161279687, 161279694-161279696
74SDHC10.99215686274514510161310442-161310445
75SLC19A210.95917001338688611494169454848-169454882, 169454904, 169454924, 169454949-169454954, 169454962-169454972, 169454983-169454985, 169454996-169454999
76F510.9988014981273486675169510337-169510343, 169510475
77MYOC10.996039603960461515171621695-171621699, 171621703
78FASLG10.998817966903071846172628389
79DARS210.996904024767861938173794393-173794396, 173814382, 173819530
80SERPINC110.9992831541218611395173880956
81NPHS210.863715277777781571152179544812-179544828, 179544836, 179544839, 179544843-179544847, 179544849, 179544853, 179544859-179544860, 179544864-179544871, 179544879-179544999
82LAMC210.9986041317699653582183155491, 183155503-183155506
83HMCN110.998166548379473116908185958659, 185962401-185962405, 185984473, 186052054-186052055, 186052066, 186083124-186083141, 186135356-186135358
84CDC7310.9987468671679221596193111009, 193111093
85CFH10.97916666666667773696196621292-196621305, 196646719, 196658692, 196658718-196658742, 196659289-196659295, 196697511, 196706741, 196716389-196716415
86CFHR110.9073514602215592993196794622-196794634, 196794712-196794746, 196794791-196794799, 196797204, 196799648-196799652, 196799812, 196801074-196801101
87CFHR510.9988304093567321710196953167, 196964962
88ASPM10.990895150469629510434197057495-197057538, 197065182-197065200, 197070865-197070875, 197094212, 197113227-197113230, 197115310-197115322, 197115487, 197115497, 197115504
89CACNA1S10.99395233013163345622201009803-201009809, 201012646-201012647, 201022675, 201022707-201022715, 201038636, 201038652-201038657, 201081386-201081391, 201081394, 201081405
90PKP110.9986244841815732181201282363, 201286767-201286768
91REN10.99754299754331221204135383-204135385
92CD4610.9991666666666711200207943693
93LAMB310.9985791418016553519209790820, 209790905, 209796428, 209800267, 209800806
94RD310.998299319727891588211654698
95USH2A10.993849702094959615609215916519-215916540, 215916557-215916563, 215916566-215916570, 215916635, 215933020, 215972426-215972439, 215990504, 216061813-216061819, 216061831-216061845, 216251473-216251478, 216251491-216251497, 216251502, 216258122-216258123, 216496818-216496822, 216496873, 216595471
96PSEN210.97995545657016271347227069686, 227071486-227071489, 227071517-227071525, 227071608-227071620
97ADCK310.97890946502058411944227152902-227152904, 227171795-227171821, 227171935-227171936, 227174425-227174433
98GJC210.2090909090909110441320228345466-228345467, 228345474-228345480, 228345483, 228345490, 228345494, 228345506-228345894, 228345909-228345960, 228345989-228346197, 228346217-228346221, 228346229-228346234, 228346237-228346251, 228346282-228346314, 228346331-228346638, 228346658, 228346664-228346665, 228346681, 228346684, 228346687-228346694, 228346703-228346704
99ACTA110.868606701940041491134229567377-229567380, 229567386, 229567779-229567819, 229567822-229567831, 229567834, 229567858-229567859, 229567887, 229567890, 229567896-229567932, 229568017-229568020, 229568026-229568027, 229568030-229568036, 229568047-229568051, 229568085-229568093, 229568103-229568109, 229568113-229568117, 229568119, 229568124, 229568130, 229568133-229568137, 229568146, 229568149, 229568433-229568434
100AGT10.99245541838134111458230845992-230845994, 230845997, 230846029-230846035
101GNPAT10.9960841899167982043231408073-231408080
102LYST10.99736980536563011406235866142, 235866145, 235866147-235866149, 235866152, 235866156-235866163, 235875491-235875493, 235896941, 235938340-235938343, 235940450-235940451, 235944165-235944166, 235944234, 235944243, 235950519-235950520
103EDARADD10.992283950617285648236645916-236645920
104ACTN210.947486033519551412685236849974-236850099, 236914805-236914811, 236917297-236917304
105MTR10.99499736703528193798237054579-237054580, 237057692-237057699, 237058744, 237058753-237058758, 237058767, 237058770
106RYR210.9881239935587817714904237205845-237205850, 237205853-237205855, 237205860, 237619945-237619946, 237619956, 237619968-237619970, 237656259, 237656293-237656294, 237656310, 237656323-237656325, 237656378, 237656382-237656387, 237729868-237729877, 237730065, 237791302, 237801739, 237819133-237819171, 237821244-237821322, 237824144-237824147, 237837412, 237843819, 237919673-237919680, 237942003-237942004
107FH10.99021526418787151533241661153-241661156, 241661166-241661170, 241669388, 241676922-241676923, 241682933, 241682945, 241682948
108NLRP310.9993571198971423111247582208, 247588360
109NET1100.965940815187056117915454680, 5454703, 5454708-5454715, 5454742-5454783, 5494480-5494488
110GATA3100.941573033707877813358097636, 8097643-8097649, 8097652, 8097661-8097683, 8097690-8097692, 8097833-8097857, 8100743-8100744, 8100747-8100761, 8100765
111OPTN100.9896193771626318173413151235-13151247, 13160930-13160934
112PHYH100.9449360865290156101713325703-13325714, 13336576-13336589, 13341968-13341974, 13341977-13341980, 13342005-13342007, 13342013-13342023, 13342032, 13342039-13342042
113DCLRE1C100.9995189995191207914970087
114CUBN100.99622884473878411087216882351-16882360, 16882368, 16911793-16911801, 16960705, 16981042-16981049, 17032478, 17142035, 17142083-17142085, 17142096-17142098, 17142109-17142110, 17142113, 17165620
115PTF1A100.2786220871327371298723481460-23481636, 23481642-23482176
116MYO3A100.9962894248608518485126409605-26409611, 26414398-26414408
117PDSS1100.90464743589744119124826986641-26986668, 26986681-26986746, 26986751-26986753, 26986757-26986758, 26986768-26986769, 26994252-26994255, 26994264, 26994282-26994283, 26994314-26994323, 27035402
118RET100.96980568011958101334543572707-43572779, 43595968, 43595998, 43596001, 43596013, 43596018, 43596027-43596031, 43596034, 43598072, 43600508, 43600511-43600513, 43600520-43600529, 43606884, 43619149
119ERCC6100.9950914770191922448250681016, 50681023-50681029, 50740670-50740672, 50740799-50740809
120CHAT100.91010235870049202224750822236, 50822269, 50822273-50822435, 50822445, 50822459-50822463, 50830147-50830148, 50857567, 50857591-50857617, 50870720
121PCDH15100.9836984207845196588955587194-55587250, 55626410, 55626414, 55626435-55626440, 55626451, 55782861, 55826540, 56128962-56128969, 56138660-56138663, 56138667-56138669, 56138676-56138688
122EGR2100.9566736547868662143164573015-64573020, 64573030-64573035, 64573038, 64573363-64573393, 64573468-64573470, 64573476, 64573479-64573482, 64573486-64573490, 64573823-64573826, 64573832
123NODAL100.998084291187742104472201244, 72201314
124PRF1100.999400479616311166872358473
125PCBD1100.9968253968254131572648290
126CDH23100.990055688146381001005673375292-73375313, 73375333-73375357, 73464769-73464774, 73464779-73464780, 73464800, 73464803, 73490275, 73490282-73490283, 73490288, 73490307-73490308, 73550114-73550117, 73551074-73551077, 73567277-73567294, 73574835-73574837, 73574841-73574846, 73574897, 73574911
127PSAP100.999365079365081157573579509
128VCL100.95770925110132144340575757971-75757973, 75757997-75758075, 75758083-75758133, 75854166-75854175, 75864937
129LDB3100.9839743589743635218488466315-88466327, 88476085-88476092, 88476095, 88476162-88476167, 88476171, 88476185-88476189, 88476195
130GLUD1100.78234943351222365167788836362-88836368, 88854082-88854110, 88854113-88854114, 88854121-88854254, 88854271-88854296, 88854324-88854330, 88854340-88854386, 88854405-88854412, 88854416-88854421, 88854428-88854526
131PTEN100.997524752475253121289692945-89692946, 89692949
132LIPA100.9956120091007340, 91007343-91007345, 91007354, 91007358
133ANKRD1100.996875396092675996-92675998
134PDE6C100.9864183158711735257795386397-95386412, 95396794-95396806, 95425124-95425129
135PLCE1100.999710522506882690996022358-96022359
136ZFYVE27100.999190938511331123699512840
137HPS1100.99335232668566142106100177359-100177363, 100177370-100177375, 100177388, 100185415, 100193821
138ABCC2100.9969814575248144638101557031-101557032, 101596007-101596018
139PAX2100.97998460354119261299102509629-102509631, 102587324, 102587334-102587337, 102587395, 102587405, 102587412-102587416, 102587419-102587420, 102587432-102587440
140C10orf2100.9995133819951312055102749138
141FBXW4100.92171105730428971239103371137-103371138, 103371493-103371499, 103372200-103372202, 103454141-103454179, 103454229-103454260, 103454281-103454282, 103454295-103454304, 103454330, 103454356
142HPS6100.793814432989694802328103825232-103825556, 103825568-103825569, 103825664-103825667, 103825672-103825674, 103825678-103825681, 103825693-103825700, 103825705, 103825713-103825714, 103825735-103825736, 103825743-103825744, 103825747, 103825762-103825770, 103825776-103825826, 103825836-103825844, 103826069-103826075, 103826131-103826133, 103826143-103826145, 103826148, 103826161, 103826252-103826253, 103826258, 103826557-103826559, 103826711-103826712, 103826715, 103827002-103827015, 103827019-103827020, 103827025-103827029, 103827376-103827385, 103827449-103827450
143SUFU100.94914089347079741455104263910-104263948, 104263957, 104263963-104263964, 104263966, 104263970-104263991, 104264001-104264002, 104264030-104264036
144COL17A1100.9971072541166134494105798235, 105798249, 105807516, 105816786-105816787, 105816794, 105816822-105816826, 105816852, 105816909
145HABP2100.98871063576946191683115338478-115338488, 115341855, 115341858-115341864
146EMX2100.72463768115942209759119302779-119302960, 119302969-119302971, 119303028, 119303035-119303051, 119303063, 119303102-119303104, 119303113, 119303118
147BAG3100.891782407407411871728121411188-121411367, 121431966, 121436738-121436743
148FGFR2100.99066179455948232463123274680, 123279647, 123310908-123310916, 123310925-123310936
149HTRA1100.733887733887733841443124221169-124221488, 124221502-124221513, 124221515, 124221521, 124221537-124221541, 124221550-124221554, 124221560, 124221562-124221570, 124221573-124221577, 124221594-124221601, 124221605-124221619, 124221631-124221632
150ACADSB100.98537336412625191299124793872-124793885, 124810694-124810696, 124810701-124810702
151UROS100.998746867167921798127503612
152HRAS110.994736842105263570534219-534221
153TALDO1110.91617357001972851014747482-747508, 747522-747578, 763943
154SLC25A22110.80452674897119190972791917-791947, 792598-792676, 792679-792680, 792683-792688, 792699-792727, 792870-792891, 792900-792904, 792920, 792949-792951, 792965-792966, 792971-792973, 792981-792983, 794809-794812
155PNPLA2110.69702970297034591515819719-819905, 821746, 823699-823748, 823768-823799, 823836-823837, 823998-824027, 824103, 824318, 824323-824335, 824362, 824365-824367, 824373, 824382, 824388, 824398-824436, 824638-824685, 824727-824733, 824770, 824773-824778, 824784-824817
156CTSD110.8692493946731216212391775053-1775087, 1775094-1775100, 1775227-1775236, 1775242-1775243, 1775248-1775250, 1775260-1775268, 1775329-1775333, 1775335-1775343, 1775350, 1775354-1775358, 1775361-1775368, 1785022-1785089
157TNNI2110.91621129326047465491861633-1861646, 1861662, 1861823, 1861886, 1862316-1862318, 1862333-1862339, 1862348-1862366
158TNNT3110.93951093951094477771946335, 1955220-1955221, 1959673-1959716
159H19110.784313725490223110712017113-2017120, 2017372-2017374, 2017397, 2017400-2017401, 2017419-2017421, 2017613-2017629, 2017757-2017839, 2017950-2017951, 2017987, 2017996, 2018002-2018003, 2018041-2018100, 2018111-2018154, 2018169-2018172
160IGF2110.741209563994371847112154229-2154231, 2154250-2154259, 2154374, 2154847-2154854, 2161365-2161526
161TH110.9219047619047612315752187710-2187711, 2187715-2187720, 2187726-2187728, 2187750-2187779, 2187863, 2187932, 2187959-2187965, 2187974-2187977, 2187992-2187996, 2188120, 2188123, 2190906-2190917, 2191006-2191007, 2191019-2191020, 2191032, 2191920-2191932, 2191948-2191954, 2191959, 2191963-2191974, 2191989-2192000
162KCNQ1110.8133924175283137920312466329-2466684, 2466694-2466713, 2608867, 2608921-2608922
163CDKN1C110.153522607781288059512905234-2905235, 2905238, 2905248-2905295, 2905302-2905307, 2905329, 2905333-2905334, 2905339, 2905342, 2905900-2906499, 2906508-2906551, 2906559-2906599, 2906610-2906647, 2906679-2906681, 2906684, 2906693-2906708
164SMPD1110.972046413502115318966411935-6411941, 6411958-6411962, 6411965-6411967, 6412742-6412743, 6412752-6412770, 6413088-6413104
165TPP1110.99940898345154116926638300
166SBF2110.9816216216216210255509803108-9803112, 9803122-9803123, 9806754, 9838395-9838403, 9838408, 9838412, 9838455-9838459, 9838481, 9838496, 9838500, 9983574-9983577, 9985341, 10014077-10014090, 10052597, 10315562-10315616
167ABCC8110.9924146649810436474617417468, 17418500, 17419275, 17449866, 17498176, 17498293-17498323
168USH1C110.89925925925926272270017531089-17531353, 17544429, 17548770-17548775
169LDHA110.997997997998299918422396, 18422414
170SLC6A5110.9903926482873923239420622725-20622731, 20622795, 20622798, 20622802, 20622863-20622865, 20622931, 20622975, 20623002-20623008, 20623042
171ANO5110.9711889132020479274222276922, 22276946-22276979, 22276989-22276996, 22277000, 22277004, 22277013, 22277015-22277023, 22277033-22277034, 22277037-22277038, 22277045-22277047, 22277051-22277062, 22277064-22277065, 22296242-22296244
172FANCF110.9929112522646840-22646846, 22647288-22647289
173PAX6110.996847911741534126931824310, 31824327, 31824339-31824340
174WT1110.66924066924067514155432449504, 32449545-32449548, 32456301-32456306, 32456319-32456385, 32456435-32456466, 32456476-32456521, 32456534-32456891
175PDHX110.994687915006648150634938210-34938211, 34938219, 34938231, 34938238, 34991779-34991781
176RAG1110.999042145593873313236594932-36594933, 36595043
177ALX4110.86650485436893165123644286594-44286601, 44286603-44286610, 44286657, 44286665, 44286672, 44331147-44331194, 44331344, 44331360-44331396, 44331407-44331418, 44331459-44331465, 44331522-44331525, 44331531, 44331540, 44331570-44331604
178SLC35C1110.9573863636363645105645827432-45827434, 45827437-45827443, 45827447-45827459, 45827642, 45827771-45827773, 45827818-45827835
179PEX16110.9740634005763727104145935428-45935431, 45935434, 45935439-45935448, 45935451-45935455, 45935983, 45937367-45937368, 45937374-45937377
180DDB2110.995327102803746128447236806, 47237941-47237945
181MADD110.999797734627831494447311452
182MYBPC3110.9955555555555617382547362729, 47371428-47371443
183SLC39A13110.9856630824372816111647431746, 47431749, 47431756, 47431762-47431763, 47433897-47433900, 47433939, 47434981, 47436424-47436427, 47436859
184RAPSN110.9661016949152542123947460316-47460318, 47460330-47460336, 47460342-47460343, 47460404, 47460408-47460417, 47460419-47460421, 47464252, 47470354, 47470449-47470453, 47470465-47470473
185SERPING1110.9673985362608149150357365744-57365792
186TMEM216110.99621212121212126461165333
187BEST1110.9766780432309441175861723216-61723252, 61723373-61723376
188ROM1110.995265151515155105662380767, 62380786, 62380794, 62381105-62381106
189BSCL2110.9899208063354914138962457920-62457927, 62457934, 62457946-62457950
190SLC22A12110.9620938628158863166264359175, 64361220, 64367148-64367150, 64367153, 64367164, 64367170-64367171, 64367246-64367256, 64367262-64367302, 64367325, 64367853
191PYGM110.9960458679319910252964521089, 64521109, 64521118-64521122, 64521126, 64521400, 64521437
192MEN1110.9891774891774920184864573137-64573143, 64573147, 64573151-64573156, 64577286, 64577370, 64577508, 64577519-64577521
193RNASEH2C110.945454545454552749565487864, 65488105, 65488175, 65488178-65488193, 65488197, 65488211-65488212, 65488217-65488221
194EFEMP2110.997747747747753133265639745, 65639812-65639813
195CST6110.891111111111114945065779537-65779543, 65779586, 65779589-65779591, 65779677-65779683, 65779727-65779728, 65780392-65780420
196BBS1110.999438832772171178266299495
197SPTBN2110.9924717691342554717366453473-66453479, 66454987-66454989, 66455057-66455058, 66455061-66455062, 66455339-66455342, 66455345-66455346, 66455352-66455359, 66455385-66455388, 66457645, 66457648, 66468265-66468268, 66472511-66472512, 66472517-66472522, 66472625, 66472628, 66472847-66472848, 66473259, 66475661, 66475664, 66483372
198PC110.9785128640090576353766617297-66617300, 66618388-66618389, 66618536, 66619996, 66620018-66620022, 66620044-66620047, 66620063-66620102, 66633678-66633690, 66633774-66633779
199CABP4110.99154589371981782867222960, 67222963, 67225896-67225898, 67225901, 67225913
200AIP110.985901309164151499367257823-67257828, 67257839-67257843, 67257854, 67258351-67258352
201NDUFV1110.9870967741935518139567379898-67379905, 67379919-67379928
202NDUFS8110.98578199052133963367799779, 67799787, 67799798-67799801, 67803931, 67803938-67803939
203TCIRG1110.9675090252707681249367810170, 67810184-67810186, 67810190, 67810297, 67810463, 67810935-67810938, 67810951, 67811316-67811357, 67811370-67811374, 67816548-67816550, 67816569-67816581, 67817151, 67817157, 67817163-67817165, 67817180
204LRP5110.9634900990099177484868080183-68080273, 68131215-68131228, 68133163-68133164, 68153784-68153787, 68153806, 68153923-68153926, 68154065-68154068, 68154091-68154097, 68201226-68201232, 68206093-68206096, 68207333-68207336, 68207341-68207343, 68207352-68207355, 68207366-68207384, 68216328, 68216344, 68216452-68216458
205CPT1A110.9944013781223113232268527753-68527763, 68582923, 68582927
206IGHMBP2110.9872568745808238298268703959, 68703977, 68704338, 68704530-68704556, 68705723-68705730
207DHCR7110.985994397759120142871146577, 71146588-71146592, 71146657-71146668, 71146678, 71146826
208LRTOMT110.961187214611873487671819775-71819782, 71819801-71819826
209MYO7A110.9891696750902572664876858906-76858910, 76873231-76873234, 76890875, 76890880, 76909608, 76909619-76909621, 76912636, 76912639, 76913394-76913415, 76922292-76922324
210ALG8110.999367488931061158177820511
211TMEM126A110.99829931972789158885365218
212FZD4110.9591078066914566161486665843-86665855, 86666018, 86666031, 86666076-86666103, 86666105-86666127
213TYR110.981132075471730159089028418-89028447
214MTMR2110.9792960662525940193295657052-95657074, 95657098-95657114
215TRPC6110.9928469241774202796101359739, 101454170, 101454174-101454179, 101454202-101454212, 101454217
216DYNC2H1110.9806102742371625112945102984296, 102984426, 102991213, 102991216, 102991488-102991490, 102991493-102991504, 102991678, 103004350, 103006501, 103014077-103014081, 103024091-103024104, 103024183, 103029483, 103029513-103029531, 103043812-103043817, 103043825-103043849, 103043935, 103043938-103043943, 103043947-103043949, 103043954, 103043979, 103044825, 103052488-103052489, 103052493-103052499, 103052503, 103052510-103052515, 103052547, 103052550-103052551, 103057182-103057188, 103059265-103059266, 103062246-103062282, 103062291-103062312, 103062320-103062326, 103062338-103062340, 103062347, 103062826-103062827, 103070103-103070130, 103070185, 103070188, 103082650, 103107159-103107163, 103107167-103107168, 103107172-103107175, 103130656, 103182704, 103182707
217ACAT1110.96806853582555411284107992359-107992361, 107992364-107992379, 107992382-107992383, 108004956-108004959, 108010824-108010830, 108014710-108014718
218ATM110.99225820521208719171108098379, 108098545-108098546, 108115626-108115633, 108115697, 108121428-108121429, 108126966, 108126969-108126976, 108126983, 108127007, 108127018, 108127041, 108127044, 108127067, 108173715, 108188244-108188248, 108196063-108196070, 108202629-108202653, 108204665-108204667
219RDX110.98801369863014211752110108281-110108286, 110108292, 110108298-110108306, 110108311-110108313, 110126042, 110126102
220ALG9110.95697167755991791836111742086, 111742091-111742145, 111742147-111742168, 111742182
221DLAT110.96656378600823651944111899584-111899585, 111899588-111899591, 111899600-111899602, 111899610-111899612, 111899615, 111904148-111904193, 111909985, 111910011-111910013, 111910016, 111910019
222SDHD110.985416666666677480111965597-111965603
223DRD2110.998498498498521332113281453-113281454
224APOA1110.9614427860696531804116706610-116706620, 116706630, 116706633, 116706645, 116706726, 116706729, 116706737-116706742, 116706799, 116706865-116706869, 116706886-116706888
225TECTA110.9996906419180226465121028731-121028732
226ROBO3110.969718817591931264161124735584, 124738757-124738758, 124738862, 124738867-124738878, 124738887-124738893, 124738935-124738940, 124739352, 124739420-124739423, 124739429-124739434, 124745912-124745921, 124745969-124745978, 124746184, 124746201, 124746249, 124746253-124746259, 124746266-124746277, 124746283, 124746295-124746302, 124746315-124746316, 124746322, 124749148-124749149, 124749756-124749775, 124750444-124750453
227WNK1120.9954022988505761305977167-977168, 977195, 977215-977217
228WNK1120.975660931598831747149862787-862788, 862791, 862811-862813, 862817-862832, 862848-862859, 862864-862867, 862872-862878, 862927-862944, 862986, 862989, 863059-863106, 863177-863180, 863231-863232, 863239, 863242-863243, 863268-863277, 863303, 863339, 987482, 994446-994448, 994801-994813, 995059-995060, 995183, 1017066-1017070, 1017788-1017790, 1017793-1017803, 1017811
229CACNA2D4120.992677211482132534141902879, 1902889, 1902902-1902903, 1909555, 1909570, 1909575, 1909586, 1920889, 1953637-1953644, 2027519-2027520, 2027538, 2027542-2027543, 2027603, 2027613-2027614
230CACNA1C120.984910836762699965612224479-2224488, 2676761, 2676887, 2676891, 2676894, 2788725, 2788728, 2788867, 2788870, 2788902-2788904, 2788914, 2791752-2791770, 2794934-2794940, 2795332-2795370, 2800199, 2800278-2800283, 2800287-2800289, 2800299-2800300
231FGF23120.9986772486772517564479660
232KCNA1120.993279569892471014885020597, 5020612, 5020687-5020691, 5020836, 5020839-5020840
233VWF120.9761904761904820184426092342, 6103055, 6122779-6122798, 6125328-6125344, 6127637-6127661, 6127940-6127946, 6128167-6128173, 6131924-6131932, 6131955-6131976, 6132003-6132028, 6140740, 6166024-6166030, 6166036, 6166052-6166057, 6166064-6166076, 6166107-6166118, 6166164-6166170, 6166177, 6166209-6166224, 6172157, 6184692
234TNFRSF1A120.967105263157894513686438512, 6438524, 6438572-6438588, 6438597-6438608, 6438611-6438616, 6438657, 6438783-6438785, 6438980-6438983
235SCNN1A120.989026063100142421876472609-6472620, 6472679-6472684, 6472695-6472699, 6472706
236TPI1120.853333333333331107506976731-6976740, 6976746-6976845
237ATN1120.9471032745591918935737045880-7045885, 7045894, 7045900, 7045903, 7045906-7045941, 7046354-7046363, 7046406-7046409, 7046427-7046470, 7046477, 7046480, 7046505-7046506, 7046513, 7046516, 7046522-7046527, 7046536, 7046591-7046592, 7046708-7046724, 7047047-7047053, 7047135-7047170, 7047193-7047194, 7050624-7050632
238GYS2120.9801136363636442211221712033-21712074
239ABCC9120.9926881720430134465021958991, 21971124, 21971166, 21998684-21998694, 22063760-22063761, 22063774, 22063778, 22063897-22063912
240DNM1L120.9733152419719659221132832382-32832387, 32832390-32832399, 32860344-32860346, 32861122, 32883977, 32890804-32890807, 32890829-32890859, 32895613-32895615
241PKP2120.965393794749487251432955418-32955424, 32976979-32976981, 33021934, 33049443-33049479, 33049485-33049511, 33049525, 33049528, 33049531-33049538, 33049550, 33049606
242KIF21A120.992980344965935498639709038, 39745594, 39751072, 39836732-39836758, 39836768-39836772
243LRRK2120.989847046413577758440619009-40619025, 40626139, 40643714, 40643718-40643720, 40653311, 40687361, 40687364, 40687367, 40707816, 40713873, 40722230, 40740568, 40742254-40742255, 40742260, 40742264, 40742267, 40742271, 40761500-40761501, 40761529-40761567
244IRAK4120.9877078814172117138344166723-44166739
245COL2A1120.9849910394265267446448373323-48373326, 48376369, 48377880-48377881, 48377885-48377899, 48377911-48377912, 48398062-48398104
246MLL2120.970867942698934841661449418435, 49420768-49420771, 49420783-49420785, 49420826, 49420896, 49420907-49420912, 49424511-49424514, 49424534, 49425132-49425133, 49425793, 49425796-49425797, 49425816-49425822, 49425827-49425828, 49425831, 49425838, 49426152, 49426169-49426174, 49426556-49426580, 49426656, 49426672, 49426675, 49426678, 49426689-49426707, 49426725-49426755, 49426779, 49426854-49426934, 49426983-49426985, 49426991, 49426999, 49427005, 49427024-49427025, 49427032-49427033, 49427053, 49427060, 49427063, 49427071, 49427076-49427077, 49427080, 49427089-49427100, 49427111-49427151, 49427208, 49427211-49427213, 49427222-49427223, 49427229, 49427265-49427274, 49427278-49427289, 49427293, 49427297-49427301, 49427313-49427318, 49427325-49427328, 49427400-49427440, 49427589-49427617, 49427641-49427646, 49427668, 49428019-49428020, 49428025, 49431291-49431303, 49431312, 49431316-49431317, 49431514-49431527, 49431598-49431599, 49431834, 49431849, 49431854-49431855, 49433274, 49433293-49433296, 49433713, 49434066, 49434069, 49434076, 49434079, 49434263-49434267, 49434271, 49434500-49434502, 49435086-49435093, 49435100, 49435204, 49435439, 49438628-49438641, 49440519-49440522
247DHH120.83879093198992192119149483645-49483646, 49483661, 49483695-49483701, 49483711-49483712, 49483715-49483717, 49483735-49483744, 49483746-49483761, 49483766-49483767, 49483772-49483774, 49483784-49483794, 49483797-49483798, 49483805, 49483819-49483858, 49483865-49483868, 49483894-49483913, 49483947-49483953, 49483984, 49483994, 49483998, 49484133-49484160, 49484980-49484983, 49484986, 49488195-49488197, 49488210-49488219, 49488236-49488247
248TUBA1A120.846491228070187045649522206-49522241, 49522575-49522608
249AQP2120.99387254901961581650344621-50344622, 50344630-50344632
250ACVRL1120.9748677248677238151252307357, 52307403-52307404, 52307408, 52307412-52307413, 52307439, 52307489, 52308247, 52308256-52308265, 52308280-52308298
251KRT81120.9413702239789289151852680197-52680198, 52680219, 52680222, 52683949, 52684021-52684061, 52685096, 52685115, 52685157-52685197
252KRT86120.927446954141106146152695755, 52695758-52695761, 52695770-52695771, 52695849-52695891, 52696893-52696933, 52697035, 52702240-52702252, 52702369
253KRT83120.9682860998650547148252708595-52708602, 52709818-52709854, 52713115, 52713119
254KRT6B120.92389380530973129169552841338-52841357, 52841649-52841661, 52843578-52843584, 52844243, 52844246, 52844265, 52845527-52845534, 52845597-52845604, 52845662-52845686, 52845713-52845719, 52845797-52845834
255KRT6C120.90324483775811164169552863213, 52863542, 52864364-52864370, 52865903, 52865906, 52865918, 52865925, 52866012-52866057, 52867091-52867108, 52867186-52867193, 52867254-52867269, 52867321-52867346, 52867457-52867493
256KRT6A120.91681415929204141169552881521, 52881524, 52881868-52881887, 52882264-52882270, 52884386-52884392, 52885465-52885468, 52885473-52885474, 52885491-52885494, 52885497-52885499, 52885505-52885507, 52886553-52886559, 52886638-52886644, 52886707-52886719, 52886772-52886796, 52886908-52886944
257KRT5120.9560067681895178177352908734, 52908769-52908787, 52908798-52908804, 52908833-52908839, 52908848-52908853, 52908863-52908868, 52908871-52908897, 52908942, 52910509-52910512
258KRT2120.999479166666671192053040638
259KRT1120.9695090439276559193553069128-53069133, 53069223-53069243, 53069249-53069250, 53070145, 53070149-53070161, 53072483-53072488, 53072494-53072498, 53072507-53072509, 53072512-53072513
260KRT4120.9893557422969219178553201521-53201523, 53201532-53201538, 53201543-53201551
261AAAS120.99451553930539164153715127-53715131, 53715138, 53715141-53715143
262ITGA7120.9921190893169927342656081782, 56086708-56086709, 56088565, 56091291, 56092541, 56092585-56092586, 56092589, 56096890-56096907
263RDH5120.99895506792059195756115042
264MYO1A120.997126436781619313257430840, 57437907-57437913, 57442080
265KIF5A120.9861245563084943309957944132, 57944142-57944183
266CYP27B1120.997380484610354152758159212, 58159816, 58159961, 58159965
267TSFM120.989775051124741097858176600-58176607, 58176614, 58180857
268GNS120.99578059071737165965141640, 65141643-65141644, 65152971, 65152979-65152980, 65153020
269LEMD3120.9437134502924154273665563393-65563442, 65563592-65563615, 65563632, 65563635, 65563643, 65563653-65563658, 65563671, 65563674, 65563699-65563705, 65563743-65563752, 65563756, 65563760, 65563764-65563765, 65563773-65563783, 65563824, 65563886-65563909, 65563927-65563937, 65564392
270CEP290120.98440860215054116744088443099, 88443113-88443114, 88443125-88443129, 88462322, 88462328, 88462336, 88462363, 88471558, 88471588-88471589, 88471592, 88472898, 88472939-88472969, 88472987, 88476826, 88478612-88478629, 88481557-88481559, 88481686, 88504979-88504991, 88505500-88505502, 88505505, 88512264, 88512434, 88512447, 88513992, 88522772-88522788, 88524942, 88530530, 88530544, 88535029-88535031
271HAL120.9888551165146922197496374335-96374336, 96380942, 96389628-96389630, 96389655-96389670
272TMPO120.93429256594724137208598909727-98909735, 98909746-98909747, 98909750, 98909767-98909775, 98909782-98909832, 98909848-98909854, 98909867-98909924
273SLC17A8120.98079096045198341770100774545-100774572, 100774586-100774590, 100774593
274SYCP3120.99718706047822711102122901, 102125369
275GNPTAB120.9997348183505713771102155444
276PAH120.9985283296541621359103288689-103288690
277UNG120.9628450106157135942109535529-109535537, 109535552-109535553, 109535558-109535560, 109535563-109535567, 109535585, 109535592-109535597, 109535608-109535616
278MVK120.9991603694374511191110034257
279TRPV4120.99120795107034232616110232141-110232146, 110236483, 110236586, 110236711-110236717, 110238482-110238485, 110246222-110246223, 110246233, 110252371
280ATP2A2120.96228827101311183129110719595-110719712
281ATXN2120.832318619989856613942111894016, 111895019, 111895041, 111957841, 112036588-112037232, 112037278-112037282, 112037286, 112037305, 112037309-112037313
282PTPN11120.98035914702581351782112856916-112856929, 112891150, 112891165-112891180, 112924406-112924409
283TBX5120.98330122029544261557114793760-114793766, 114793810, 114841579, 114841665, 114841688-114841703
284TBX3120.921594982078851752232115109851, 115109876-115109877, 115109883-115109885, 115109888, 115109901-115109903, 115109905, 115109916-115109923, 115110056, 115111982-115111994, 115111998, 115112038-115112065, 115112070-115112071, 115112129, 115112132-115112140, 115112223-115112226, 115112229-115112230, 115112248-115112255, 115112264-115112286, 115112297-115112302, 115112306, 115112311-115112315, 115112318-115112320, 115112324-115112328, 115112340, 115112347-115112354, 115112365-115112366, 115112380-115112382, 115112388-115112391, 115112396, 115112459-115112461, 115112484-115112488, 115112494-115112498, 115112552-115112556, 115112567-115112568, 115120873-115120877
285ACADS120.9991928974979811239121176980
286HNF1A120.96677215189873631896121416572-121416576, 121416610-121416611, 121416615-121416617, 121416622, 121434200, 121434353-121434379, 121437307, 121437364-121437386
287ATP6V0A2120.99455464799689142571124197149, 124197165-124197166, 124197224-124197228, 124209307-124209309, 124209332, 124209338, 124241398
288PUS1120.859813084112151801284132414268-132414341, 132414452-132414532, 132425996-132426020
289SGCG130.982876712328771587623808750-23808758, 23808807-23808808, 23824840-23824843
290SACS130.986899563318781801374023912142-23912154, 23912873, 23915647-23915654, 23942561-23942567, 23949258-23949408
291CENPJ130.997759522031379401725480444-25480451, 25480454
292PDX1130.5856807511737135385228494282, 28494341, 28494344, 28494389-28494393, 28494397-28494419, 28494438, 28494442-28494447, 28494478-28494498, 28494524-28494557, 28494572-28494600, 28494612-28494638, 28498393-28498396, 28498403-28498411, 28498420-28498464, 28498563, 28498566-28498578, 28498600-28498655, 28498663-28498672, 28498686-28498741, 28498752-28498756, 28498760, 28498804, 28498809-28498810, 28498816
293B3GALTL130.9532398129592570149731774222-31774291
294BRCA2130.9993175392414971025732899266, 32899269, 32920965, 32920970, 32950904, 32950907-32950908
295FREM2130.98769716088328117951039261572, 39261637-39261656, 39261687-39261716, 39261851, 39261910, 39261915, 39261919, 39261922, 39261925, 39261937, 39261963-39261990, 39263840-39263850, 39450271-39450286, 39454445-39454448
296TNFSF11130.96016771488473895443148446, 43148452, 43148454-43148458, 43148490-43148506, 43148526, 43148529-43148538, 43148541-43148542, 43148565
297SUCLA2130.9554597701149462139248528324-48528342, 48528350-48528383, 48570990, 48571056-48571061, 48571071-48571072
298RB1130.95801937567277117278748878080, 48878089-48878091, 48878102-48878106, 48878109-48878114, 48878117, 48878121-48878126, 48878129-48878132, 48878140-48878185, 48916783, 48916832-48916833, 48921998, 48939053, 48947581-48947592, 48947594, 48947603-48947623, 48954219-48954220, 49039217, 49039221, 49039226, 49039395
299RNASEH2B130.99148029818956893951484213-51484214, 51484224-51484229
300ATP7B130.999772623919961439852520478
301CLN5130.9910130718954211122477566114-77566122, 77566125, 77566289
302EDNRB130.9751693002257333132978474003-78474009, 78474690-78474692, 78474700-78474707, 78474715-78474720, 78492493-78492494, 78492498, 78492505-78492507, 78492511-78492513
303SLITRK1130.9875657580105226209184453774, 84453777-84453782, 84453790, 84453793-84453810
304ZIC2130.522201375859917641599100634319-100634766, 100634775, 100634778-100634780, 100634803, 100634814-100634816, 100634819-100634824, 100634839, 100634850-100634854, 100634997-100635048, 100635180, 100637244, 100637250-100637251, 100637600-100637623, 100637630-100637687, 100637701-100637706, 100637710-100637858, 100637865, 100637929, 100637932
305PCCA130.96296296296296812187100741380-100741391, 100741403-100741450, 100741469, 100764096, 100909872, 100909894-100909903, 100909906-100909909, 100909912-100909914, 100925464
306ERCC5130.99433828733192244239103483923-103483926, 103483984-103483993, 103483997-103484002, 103514627, 103519141-103519143
307COL4A1130.98622754491018695010110822981, 110822986-110822987, 110959291-110959299, 110959318-110959374
308F7130.902621722846441301335113765004-113765077, 113765083, 113765086-113765089, 113765097-113765101, 113765110-113765113, 113765120-113765130, 113765153-113765161, 113772947-113772949, 113772962-113772969, 113773032, 113773036-113773039, 113773051, 113773199-113773203
309F10130.994546693933281467113777172, 113803397-113803403
310GRK1130.96631205673759571692114321777, 114322029-114322030, 114322107-114322139, 114322153-114322159, 114325895-114325896, 114325959-114325964, 114426073, 114426077, 114426084-114426087
311TEP1140.9983510908168413788420841511, 20841514, 20844390, 20851772, 20851775, 20853267-20853268, 20859859-20859864
312RPGRIP1140.9981869981877386121785947-21785953
313SLC7A7140.9934895833333310153623282113-23282119, 23282126, 23282128, 23282132
314PABPN1140.6156351791530935492123790679-23791029, 23792627, 23793359-23793360
315MYH6140.9943298969072233582023852451-23852452, 23858204-23858212, 23858215, 23858232-23858233, 23858241-23858242, 23858256-23858261, 23871907, 23872639-23872648
316MYH7140.996556473829220580823883291, 23883294-23883295, 23884857, 23885514, 23886884-23886891, 23894145, 23894232-23894233, 23894604-23894607
317NRL140.7212885154061619971424550468, 24550498-24550502, 24550532-24550538, 24550558-24550605, 24550608, 24550611, 24550614-24550620, 24550622, 24550631-24550737, 24550747-24550752, 24550763-24550764, 24551782-24551784, 24551790-24551795, 24551806, 24551809-24551811
318PCK2140.998959958398342192324563642, 24568261
319TINF2140.994100294985258135624709711, 24710292, 24711494-24711499
320TGM1140.9947025264873713245424724286, 24731438-24731444, 24731448-24731452
321FOXG1140.66190476190476497147029236486-29236970, 29237268-29237272, 29237344-29237346, 29237794-29237796, 29237825
322COCH140.9830611010284328165331344266-31344293
323CFL2140.9940119760479350135183744-35183746
324NKX2-1140.57794361525705509120636986497-36986518, 36986538-36986543, 36986550, 36986559, 36986587-36986616, 36986660-36986949, 36986985-36986990, 36986997-36987016, 36987077, 36987082-36987086, 36987089-36987093, 36987102-36987111, 36987115, 36987148-36987154, 36988204-36988226, 36988256-36988262, 36988265, 36988268, 36988272-36988286, 36988294-36988298, 36988306, 36988328-36988330, 36988334, 36988344-36988346, 36988362-36988366, 36988371, 36988375, 36988389-36988392, 36988395-36988402, 36989284, 36989287-36989295, 36989299-36989303, 36989309-36989310, 36989312-36989318, 36989334
325PAX9140.997076023391813102637132412, 37135743, 37135747
326FANCM140.9946315275744333614745605370, 45605374, 45623973, 45623996-45623997, 45628451, 45628481-45628483, 45642301-45642306, 45644307, 45644339, 45644351-45644352, 45644370, 45650689-45650690, 45653036, 45653062, 45654537, 45667905-45667911, 45669073
327MGAT2140.967261904761944134450088143-50088144, 50088176-50088217
328C14orf104140.79912490055688505251450100350-50100356, 50100360, 50100568-50100594, 50100616-50100630, 50100671-50100672, 50100683, 50100730, 50100735-50100737, 50100741-50100745, 50100777-50100786, 50100791-50100792, 50100795-50100808, 50100817-50100855, 50100897, 50100903-50100909, 50100915-50100917, 50100920, 50100942, 50100962-50100993, 50101009-50101014, 50101024-50101025, 50101032, 50101039-50101045, 50101048, 50101065-50101089, 50101108, 50101116-50101122, 50101125-50101128, 50101145-50101156, 50101234-50101282, 50101328-50101347, 50101356-50101393, 50101400-50101444, 50101453-50101459, 50101462, 50101533-50101575, 50101682, 50101713-50101755, 50101826-50101830, 50101836-50101850
329L2HGDH140.997126436781614139250778813-50778816
330PYGL140.981132075471748254451375008-51375015, 51375037-51375041, 51381439, 51390757, 51410879-51410897, 51410941, 51410959, 51410964, 51410968-51410970, 51410973-51410979, 51411121
331GCH1140.7755644090305416975355312521-55312523, 55312528, 55312544-55312549, 55369107-55369108, 55369112-55369116, 55369230-55369381
332OTX2140.99440715883669589457268867-57268869, 57268888, 57272090
333SIX6140.99595141700405374160976217-60976218, 60976221
334SIX1140.99649122807018385561115596, 61115638, 61115749
335SYNE2140.99806987068134402072464447778, 64457767-64457773, 64457777-64457786, 64491158-64491162, 64497929-64497930, 64516385-64516388, 64518660-64518662, 64518673, 64692114-64692119, 64692125
336ZFYVE26140.9910761154855668762068228207-68228221, 68229073, 68229076, 68229080, 68238779, 68241751-68241772, 68242687-68242695, 68244319, 68251826, 68264415-68264424, 68274123-68274124, 68274195-68274198
337PSEN1140.999287749287751140473678603
338VSX2140.9465930018416258108674706278-74706279, 74706318-74706319, 74706330, 74706335-74706337, 74706342-74706346, 74706389-74706392, 74706404-74706407, 74706411-74706419, 74706422-74706429, 74706431-74706436, 74706447-74706452, 74706528, 74706533, 74706562, 74706583, 74706605-74706608
339EIF2B2140.9763257575757625105675469841, 75471476, 75471485-75471488, 75471536-75471550, 75471587-75471588, 75471597-75471598
340MLH3140.999082989454384436275506637-75506639, 75506696
341FLVCR2140.998734977862112158176045741-76045742
342TGFB3140.999192897497981123976447236
343ESRRB140.9764243614931236152776957801, 76964673-76964674, 76964678-76964682, 76964686, 76964692-76964702, 76964721-76964727, 76964731, 76964743-76964749, 76964763
344POMT2140.9742565468264558225377745190-77745206, 77786850-77786867, 77786875-77786881, 77786940-77786943, 77786948, 77786953-77786958, 77786969-77786970, 77786987, 77787018, 77787024
345VIPAR140.999325236167341148277900642
346GALC140.94995140913508103205888434763, 88459314-88459333, 88459348-88459384, 88459398, 88459420-88459427, 88459434, 88459438-88459468, 88459471-88459474
347SPATA7140.9822222222222232180088857771-88857773, 88859789, 88883130-88883156, 88894022
348TTC8140.9741602067183540154889343654, 89343686-89343724
349ATXN3140.9788213627992623108692537358-92537379, 92559646
350VRK1140.9714525608732234119197304107, 97304111-97304117, 97304129-97304154
351AMN140.586637298091045631362103390141-103390142, 103390151, 103395106-103395109, 103395147-103395160, 103395171-103395213, 103395219-103395252, 103395284-103395287, 103395297, 103395300, 103395471-103395510, 103395516-103395595, 103395765-103395772, 103395791, 103395799, 103395802-103395811, 103395854, 103395992, 103396001, 103396331-103396333, 103396344-103396349, 103396353, 103396502-103396664, 103396743-103396830, 103396913-103396932, 103396948, 103396962, 103396972, 103396986-103397017
352INF2140.837333333333336103750105167812, 105167875-105167888, 105167935-105167936, 105167977, 105167995-105168031, 105168084-105168088, 105169755-105169761, 105170263, 105170279-105170280, 105172390-105172391, 105172401-105172406, 105173590-105173633, 105173637, 105173644-105173653, 105173658-105173662, 105173671-105173698, 105173705-105173710, 105173723-105173725, 105173728, 105173731-105173738, 105173754-105173793, 105173845-105174148, 105174159-105174195, 105174242, 105174285-105174287, 105174291-105174292, 105174303-105174304, 105174893-105174902, 105176499-105176502, 105177479-105177482, 105177491-105177492, 105177499, 105177502-105177506, 105177513-105177514, 105179258, 105179262, 105179608, 105179827-105179828, 105179881, 105181133-105181135
353NIPA1150.8202020202020217899023086234-23086411
354SNRPN150.99861687413555172325222956
355UBE3A150.9878234398782332262825601874-25601880, 25601986-25601989, 25616251-25616257, 25616566-25616572, 25616620-25616626
356OCA2150.9908621374652423251728202798-28202801, 28263544-28263547, 28263555-28263564, 28263573-28263575, 28263670, 28263682
357TRPM1150.9975062344139712481231320571, 31320575, 31320627, 31332401-31332407, 31353657, 31353660
358SLC12A6150.999420793512892345334533465, 34549867
359ACTC1150.996472663139334113435086932, 35086935, 35086939, 35086944
360SPRED1150.9865168539325818133538614442-38614449, 38614475-38614481, 38614502, 38614521, 38614525
361IVD150.9804839968774425128140698071-40698076, 40698081-40698088, 40710399-40710409
362CHST14150.83200707338638190113140763413-40763540, 40763561-40763572, 40763633-40763634, 40763662-40763667, 40763677-40763681, 40763684-40763688, 40763691-40763696, 40763729-40763732, 40763781-40763782, 40763796-40763815
363CDAN1150.87052117263844477368443018520-43018523, 43019887-43019917, 43019941, 43021427-43021434, 43021442, 43021451, 43022926-43022928, 43022931, 43022935, 43023884, 43026462, 43026524-43026533, 43028521-43028523, 43028526, 43028592, 43028595, 43028599, 43028609-43028610, 43028664-43028978, 43029211-43029300
364TTBK2150.9825970548862165373543067484-43067491, 43067846-43067849, 43067853-43067875, 43103886-43103899, 43103920, 43103946, 43109263-43109275, 43109289
365STRC150.96021021021021212532843892844-43892850, 43893082-43893084, 43893105, 43893110, 43896241, 43896255-43896256, 43896303-43896326, 43897010-43897016, 43897495-43897503, 43900149-43900156, 43903372, 43904179, 43905034-43905072, 43905306, 43905315, 43905352, 43905355, 43905425, 43906204, 43906207, 43907745-43907751, 43907886, 43908018-43908051, 43908177-43908195, 43910207-43910226, 43910440, 43910867-43910875, 43910884, 43910887-43910895
366STRC150.99497487437186359744004814, 44004817, 44004887
367STRC150.9553846153846287195044007207-44007213, 44007348, 44007480-44007513, 44007639-44007657, 44009600-44009601, 44009606-44009608, 44009623, 44009669-44009688
368SPG11150.9884069830878385733244855457, 44898251-44898254, 44914528-44914534, 44955639-44955676, 44955684-44955718
369DUOX2150.95825263610932194464745393014, 45393019, 45398009-45398015, 45398369, 45401073-45401078, 45401089-45401096, 45403586-45403599, 45403611-45403677, 45403696, 45403699-45403703, 45403711-45403718, 45403727-45403783, 45403988, 45404049-45404051, 45404059, 45404794, 45404802, 45404863, 45405187-45405196
370GATM150.9457547169811369127245670583-45670651
371SLC12A1150.999090909090913330048580307, 48580315-48580316
372FBN1150.9962859795728932861648737634-48737644, 48760222, 48766799, 48779347, 48780571, 48782188-48782190, 48936953-48936966
373CEP152150.9921450151057439496549036520, 49044606-49044614, 49044626, 49061206-49061214, 49061227, 49083506-49083522, 49097832
374TPM1150.928654970760236185563335029, 63335091, 63335107, 63335112, 63335952-63335959, 63335975-63336023
375PPIB150.831029185867911065164455051-64455082, 64455090-64455165, 64455175, 64455184
376CLN6150.8910256410256410293668500478-68500479, 68506637, 68506643-68506649, 68506680-68506688, 68521840-68521922
377NR2E3150.942934782608763110472103892-72103894, 72103898-72103936, 72104106-72104123, 72104164-72104166
378HEXA150.981132075471730159072668074-72668080, 72668125-72668138, 72668150-72668151, 72668261, 72668270-72668272, 72668275, 72668312-72668313
379HCN4150.698228128460691090361273614832-73614834, 73614853-73614854, 73614880, 73614883-73614917, 73614928-73614929, 73614952-73614956, 73614969-73614988, 73614991, 73614994, 73614998-73615005, 73615016-73615023, 73615029, 73615032, 73615047-73615095, 73615202-73615207, 73615231-73615235, 73615244-73615287, 73615295-73615354, 73615409-73615431, 73615449, 73615452-73615453, 73615474, 73615489-73615529, 73615573-73615578, 73615584-73615596, 73615599-73615603, 73615636-73615639, 73615642-73615651, 73615665, 73615668-73615670, 73615675, 73615705-73615748, 73615891, 73615916-73615918, 73615925, 73615965-73615971, 73616023-73616063, 73616083-73616109, 73616137-73616149, 73616160-73616168, 73616191-73616196, 73616242, 73616430, 73616452, 73616567-73616570, 73616584-73616587, 73617645-73617646, 73622047, 73659978-73659998, 73660072-73660611
380MPI150.992924528301899127275182940-75182948
381PSTPIP1150.999200639488411125177310865
382FAH150.994444444444447126080445455, 80445458-80445463
383RPS17150.936274509803922640882823374-82823393, 82824389-82824394
384RPS17150.936274509803922640883207717-83207736, 83208732-83208737
385FANCI150.999749184850771398789790944
386POLG150.96586021505376127372089864967-89864976, 89866027-89866038, 89876460, 89876481, 89876484, 89876618, 89876623, 89876675-89876681, 89876692-89876693, 89876813-89876838, 89876845-89876857, 89876866, 89876916-89876922, 89876939-89876982
387MESP2150.8391959798995192119490319772-90319816, 90319842-90319887, 90319908, 90319919-90319920, 90319926-90319927, 90319930-90319933, 90319947-90319950, 90319973-90319979, 90319993-90319994, 90320012-90320015, 90320031, 90320036-90320047, 90320049, 90320054, 90320060, 90320066, 90320070-90320071, 90320086-90320092, 90320107-90320109, 90320135-90320146, 90320161, 90320228-90320238, 90320266-90320268, 90320275-90320281, 90320388-90320397, 90320444, 90320454
388BLM150.999529854254822425491354506-91354507
389IGF1R150.97100389863548119410499192811-99192892, 99250827, 99250830-99250831, 99473489-99473490, 99473517-99473518, 99473521-99473523, 99500551-99500552, 99500567-99500569, 99500584-99500585, 99500601-99500610, 99500621-99500630
390HBZ160.35897435897436275429203891-203925, 203932-204095, 204271-204343, 204386-204388
391HBM160.66666666666667142426215998-216002, 216025-216031, 216053-216056, 216064-216075, 216330-216353, 216356, 216379-216434, 216440-216471, 216601
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438MLYCD160.65384615384615513148283932750-83933251, 83933265, 83933268-83933277
439LRRC50160.993112947658415217884179060-84179064, 84179083-84179091, 84179142
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458TP53170.987309644670051511827579443-7579453, 7579466-7579468, 7579472
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464MYH2170.9879848952969470582610424687, 10424701-10424703, 10424706, 10424710-10424714, 10428867, 10428870, 10429099-10429113, 10430058, 10430064-10430068, 10431089, 10431100-10431101, 10431104-10431106, 10446233-10446254, 10446262-10446265, 10446449-10446453
465MYH3170.999313068864854582310534941-10534943, 10534954
466SCO1170.99889624724062190610600692
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515POLG2170.997942386831283145862476461, 62476504-62476505
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519DNAI2170.9928492849284913181872306212, 72306215-72306225, 72306235
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524UNC13D170.9813626642224361327373824146-73824149, 73825050-73825057, 73825060, 73826464, 73826712, 73827379, 73827382, 73827402, 73830747, 73830758, 73831493, 73831511, 73831519-73831521, 73831524-73831525, 73831844-73831847, 73832124-73832125, 73832291, 73832297, 73832300-73832305, 73832308, 73832767-73832768, 73839095-73839110, 73839144
525SEPT9170.91936399772856142176175398334, 75398372-75398375, 75398747, 75494605-75494740
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528ACTG1170.994680851063836112879478998-79478999, 79479005-79479008
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530LPIN2180.99925678186548226912931362, 2931365
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542MYO5B180.9956733369388924554747373641, 47721141-47721163
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544TCF4180.99851190476193201652946811-52946813
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552ELANE190.7226368159204223804852882-852884, 852903-852931, 853262-853403, 855611, 855696-855710, 855766-855769, 856032, 856137-856164
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569LDLR190.997289972899737258311200225, 11200271-11200276
570PRKCSH190.964083175803457158711552109, 11557087, 11557144, 11557913, 11558297, 11558337-11558376, 11558525-11558526, 11558534-11558541, 11558552, 11559784
571MAN2B1190.94927536231884154303612758381, 12758398-12758400, 12759021-12759053, 12759063-12759112, 12759147-12759149, 12759206, 12760789, 12761013-12761017, 12767784-12767785, 12767836-12767858, 12767867-12767870, 12768264-12768265, 12768271-12768275, 12768293-12768300, 12768307-12768312, 12768322-12768325, 12768335, 12777504, 12777507
572GCDH190.9741837509491334131713002137-13002169, 13006833
573CACNA1A190.815981917298231384752113318145, 13318177-13318178, 13318181-13318214, 13318222-13318867, 13319594-13319630, 13319638-13319659, 13319690-13319700, 13320183, 13346064-13346081, 13409377-13409378, 13409381-13409398, 13409407-13409408, 13409450-13409700, 13409733, 13409742-13409748, 13409780-13409789, 13409808, 13409812-13409817, 13409883-13409903, 13616746-13617038
574NOTCH3190.87941429801895840696615271840-15271842, 15271885, 15271924-15271925, 15271976, 15271982, 15271986, 15272034-15272040, 15272101, 15272125-15272154, 15272160, 15272163, 15272169, 15272173-15272174, 15272199-15272204, 15272207-15272209, 15272215, 15272224-15272230, 15272233, 15272244, 15272317-15272345, 15272493-15272495, 15280981, 15281142, 15281157, 15281160-15281163, 15281187-15281226, 15281237-15281270, 15281295-15281301, 15281320, 15281323-15281361, 15281489, 15281493, 15281497, 15281505, 15281530, 15281533, 15284984-15285031, 15285057-15285058, 15285085-15285108, 15285115-15285137, 15288336-15288373, 15288401, 15288426, 15288526-15288534, 15288539-15288541, 15288544-15288551, 15288554-15288555, 15288571-15288901, 15290031-15290037, 15298083, 15302844, 15311613-15311716
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581SCN1B190.949194547707564180735521725-35521764, 35523446
582HAMP190.99607843137255125535775902
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594BCKDHA190.9857997010463419133841903770, 41916560-41916566, 41916571-41916572, 41916576-41916584
595RPS19190.99771689497717143842364883
596ATP1A3190.92794997281131265367842470956-42470979, 42470996-42471010, 42471016, 42471035-42471077, 42471108-42471109, 42471113, 42471141, 42471159-42471162, 42471169, 42471172-42471193, 42471307-42471309, 42471324-42471351, 42471357-42471367, 42471373, 42471382, 42471390-42471394, 42471411-42471421, 42479893, 42479900, 42480568-42480639, 42480660-42480664, 42480675-42480676, 42480680, 42489314-42489320, 42492202-42492203
597ETHE1190.983006535947711376544015696, 44031270-44031271, 44031277-44031282, 44031292-44031295
598BCAM190.9136195018548163188745312382-45312436, 45321812, 45321828, 45322100, 45322104, 45322110-45322116, 45322954-45322957, 45322961, 45323962-45323977, 45324010-45324079, 45324173-45324178
599APOE190.6823899371069230395445411066-45411067, 45411073-45411075, 45411790, 45411878-45411914, 45411920-45411944, 45411949, 45411951-45411956, 45411959-45411961, 45411964-45411970, 45411981-45411987, 45411990, 45411992, 45412000-45412004, 45412011-45412026, 45412035, 45412041-45412060, 45412066, 45412069, 45412075-45412076, 45412097-45412157, 45412167-45412200, 45412227-45412234, 45412236-45412238, 45412240-45412250, 45412254-45412255, 45412272-45412284, 45412341-45412342, 45412349, 45412357, 45412365-45412377, 45412464-45412466, 45412472-45412482
600BLOC1S3190.2446633825944246060945682576-45682604, 45682633-45682671, 45682689-45682731, 45682744-45682792, 45682801-45683099, 45683126
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602OPA3190.922651933701664254346032378-46032410, 46032424-46032430, 46087933, 46087942
603SIX5190.74774774774775560222046268870, 46268880-46268891, 46268901-46268902, 46268907, 46268912, 46269712, 46269885-46269900, 46270011-46270013, 46270142-46270144, 46270162, 46270172-46270173, 46271300-46271326, 46271358, 46271361, 46271460-46271470, 46271546, 46271564-46271621, 46271670-46271696, 46271703-46271772, 46271782-46272102
604DMPK190.88624338624339215189046273771-46273808, 46274229-46274232, 46274244-46274248, 46274261-46274264, 46274280, 46274284-46274286, 46285451-46285610
605FKRP190.59274193548387606148847258708-47258742, 47258765-47258771, 47258788-47258825, 47258839-47258845, 47259003-47259017, 47259039-47259070, 47259084-47259089, 47259098-47259103, 47259109-47259110, 47259112-47259149, 47259154-47259162, 47259173-47259179, 47259186-47259189, 47259191-47259211, 47259216-47259222, 47259225, 47259239, 47259267-47259272, 47259275-47259282, 47259285-47259287, 47259297-47259326, 47259340-47259346, 47259355-47259376, 47259382-47259391, 47259403, 47259412-47259453, 47259461-47259465, 47259469-47259488, 47259490-47259491, 47259497-47259518, 47259520-47259521, 47259536, 47259590-47259591, 47259615-47259626, 47259630-47259680, 47259693, 47259696-47259706, 47259711-47259744, 47259776-47259792, 47259838-47259861, 47259870-47259871, 47259874-47259877, 47260004-47260013, 47260038, 47260076-47260081, 47260091, 47260099-47260100, 47260107, 47260110, 47260168-47260175, 47260183
606CRX190.975555555555562290048342621, 48342624, 48342630-48342638, 48342661-48342670, 48343029
607DBP190.6820040899795531197849138837-49139058, 49139068, 49139070, 49139073-49139079, 49139090-49139114, 49139120, 49139123, 49139127-49139135, 49139138-49139145, 49139149, 49139152-49139156, 49139162-49139186, 49139223-49139224, 49140201-49140203
608BCAT2190.9728583545377432117949299904-49299911, 49303074, 49303458, 49314241-49314262
609GYS1190.998644986449863221449473893, 49486019, 49486027
610MED25190.88547237076649257224450321613-50321634, 50321854-50321855, 50321858, 50332241-50332246, 50333137, 50333431-50333470, 50333768-50333800, 50334054-50334085, 50334101-50334144, 50334665-50334670, 50334675, 50334679-50334680, 50334695, 50335398-50335414, 50338413-50338415, 50338813-50338819, 50338827, 50338830-50338834, 50338851, 50339487-50339493, 50339545-50339554, 50339583-50339592, 50340135-50340139
611PNKP190.92337164750958120156650364534-50364548, 50364610, 50364867, 50364878-50364879, 50364883, 50364916, 50364929-50364931, 50365029-50365036, 50365038-50365041, 50365130, 50365133, 50365349-50365362, 50365479-50365506, 50365628-50365630, 50365647, 50365651-50365653, 50365656-50365657, 50365828-50365836, 50365857-50365865, 50365952-50365957, 50365965, 50368401-50368406
612MYH14190.96776305023728197611150713623-50713627, 50713643-50713674, 50713710-50713714, 50713722, 50714003, 50714012-50714027, 50735283-50735289, 50747517-50747528, 50753916-50753926, 50770146-50770149, 50770211-50770265, 50771609, 50780105, 50780126-50780154, 50789915-50789916, 50789919, 50792713-50792715, 50804988, 50812924-50812930, 50812967-50812968, 50813040
613KCNC3190.543975373790681037227450823503-50823602, 50823952, 50823955-50823956, 50824004-50824010, 50824014-50824019, 50826281, 50826290, 50826348-50826349, 50826353, 50826366-50826373, 50826376-50826386, 50826397-50826427, 50826433, 50826438-50826443, 50826449-50826450, 50826464-50826473, 50826633-50826638, 50826907-50826909, 50831470-50831799, 50831810-50832065, 50832088-50832339
614KLK4190.933333333333335176551410249, 51411640, 51411898-51411904, 51412041-51412042, 51412602-51412607, 51412616-51412623, 51412627, 51412630-51412631, 51412640-51412650, 51412659-51412670
615ETFB190.9625360230547639104151857409-51857419, 51857424-51857427, 51857431, 51857435, 51857498-51857499, 51857611-51857630
616NLRP12190.99780288763347318654313663, 54314386-54314390, 54314395
617PRKCG190.8748806112703262209454385749-54385771, 54385779-54385785, 54385794-54385826, 54385841, 54385870-54385872, 54385892-54385918, 54392901-54392911, 54392915, 54392919-54392927, 54392931, 54392944, 54392947-54392950, 54392953-54392956, 54392961, 54392987-54392988, 54393140-54393271, 54401841, 54409573
618PRPF31190.9926666666666711150054627129-54627130, 54627158, 54627178, 54627941, 54631728-54631733
619TSEN34190.8628081457663512893354695238-54695241, 54695244, 54695247-54695249, 54695269-54695271, 54695275, 54695295-54695331, 54695339-54695405, 54695655, 54695742-54695746, 54695752, 54696083-54696086, 54696093
620NLRP7190.9932562620423921311455450945-55450951, 55450954, 55450958, 55451167-55451173, 55451248-55451249, 55451567, 55451649, 55451654
621TNNT1190.911280101394177078955644320, 55644325, 55648531-55648532, 55648535-55648536, 55648540-55648554, 55648565-55648571, 55652272-55652281, 55652322-55652325, 55657809-55657811, 55658049-55658073
622TNNI3190.891625615763556660955665444, 55665447, 55667574-55667576, 55667584-55667585, 55667588-55667597, 55667603-55667609, 55667619-55667625, 55667631-55667634, 55667647-55667651, 55667660-55667669, 55667688-55667700, 55668485, 55668487-55668488
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624RPS720.93162393162393405853623202-3623205, 3623210, 3623215, 3623233-3623243, 3623247-3623254, 3623260-3623274
625KLF1120.9727095516569242153910183844-10183885
626LPIN120.999251777029552267311928561, 11935602
627MYCN20.76057347670251334139516082367, 16082380, 16082401, 16082409, 16082458-16082460, 16082476, 16082480, 16082483-16082485, 16082557-16082560, 16082584-16082607, 16082611-16082632, 16082639-16082884, 16082902-16082922, 16085843-16085847
628MATN320.86789869952088193146120192900-20192903, 20212204-20212392
629APOB20.99488752556237701369221227487-21227488, 21232417-21232418, 21266736-21266798, 21266807, 21266813, 21266817
630POMC20.914179104477616980425384151-25384153, 25384159-25384161, 25384179-25384186, 25384247, 25384265-25384268, 25384290-25384291, 25384294, 25384356, 25384359, 25384362, 25384389, 25384392-25384394, 25384406-25384419, 25384421-25384434, 25384449-25384453, 25384457-25384459, 25384464, 25384469, 25384475-25384476
631HADHB20.995087719298257142526507768-26507774
632OTOF20.94911578244912305599426684791, 26684993, 26689677-26689684, 26690002-26690004, 26695388, 26696879-26696893, 26696962, 26696968-26696972, 26697386-26697391, 26697396-26697409, 26697415, 26697422, 26697448-26697456, 26697459-26697472, 26697480, 26697491-26697493, 26699166-26699169, 26699177-26699185, 26699759-26699911, 26700043-26700047, 26700053-26700056, 26700113-26700154, 26700534, 26712596, 26712599-26712600
633EIF2B420.995098039215698163227591982-27591988, 27592331
634C2orf7120.9909490561158535386729287924-29287926, 29293654-29293655, 29293667-29293671, 29293712-29293719, 29293890-29293894, 29293898, 29293905-29293910, 29293916, 29294048-29294050, 29295457
635ALK20.9860168620193368486329443681, 29451750-29451772, 29754881-29754888, 29754895-29754904, 30143213, 30143409-30143412, 30143417, 30143421, 30143427-30143433, 30143439, 30143444-30143446, 30143492-30143499
636XDH20.988005997001548400231572976, 31609352-31609397, 31625982
637SRD5A220.99343832020997576231805852, 31805953-31805956
638SPAST20.80551053484603360185132288944-32288953, 32288956-32288960, 32288963-32288964, 32288988-32289315, 32340840-32340847, 32340860-32340864, 32340891, 32341197
639CYP1B120.8155637254902301163238301618-38301629, 38301816, 38301822-38301834, 38301896-38301910, 38301934-38301937, 38301957-38302033, 38302045-38302056, 38302063-38302077, 38302097, 38302139-38302209, 38302243-38302270, 38302283-38302305, 38302322-38302324, 38302339-38302346, 38302374-38302375, 38302387-38302390, 38302411, 38302415-38302419, 38302421-38302426
640SOS120.9915042478760634400239222278, 39222344, 39222422, 39224534, 39241911, 39281920, 39281923-39281927, 39285883-39285902, 39347513, 39347542-39347543
641ABCG520.9805725971370138195644047097, 44055157, 44058948, 44058963-44058967, 44058970-44058971, 44058974-44058982, 44058985, 44058997, 44059003, 44059086-44059087, 44059096-44059102, 44059126, 44059129-44059131, 44059199, 44059220-44059221
642ABCG820.998516320474783202244079988-44079990
643LRPPRC20.9808841099163780418544121728, 44222960-44222970, 44223019-44223086
644SIX320.7677677677677723299945169303, 45169333-45169399, 45169425-45169468, 45169490-45169516, 45169518-45169524, 45169527, 45169533-45169539, 45169542-45169544, 45169572, 45169599-45169602, 45169607, 45169614, 45169638-45169640, 45169650, 45169653, 45169673-45169680, 45169751-45169758, 45169761-45169764, 45169769-45169774, 45169778-45169785, 45169788-45169791, 45169817, 45170021, 45170033-45170035, 45171741-45171751, 45171755, 45171759, 45171780, 45171790-45171795
645EPCAM20.932275132275136494547596645-47596664, 47596671-47596704, 47600694-47600702, 47601002
646MSH220.9960784313725511280547630444, 47630474-47630479, 47639628, 47641555-47641557
647MSH620.93313739897134273408348010373-48010583, 48010589-48010619, 48010625-48010632, 48027678-48027680, 48030636-48030652, 48033918-48033920
648LHCGR20.9814285714285739210048915607, 48958372-48958374, 48982660-48982661, 48982664-48982666, 48982669, 48982729, 48982753-48982755, 48982758-48982764, 48982768-48982770, 48982774-48982782, 48982787-48982791, 48982808
649FSHR20.995689655172419208849190142, 49190468-49190471, 49190477-49190480
650NRXN120.93152542372881303442550149348, 50170903, 50758445, 51254655-51254676, 51254742-51254767, 51254775-51254790, 51254916-51254925, 51254937-51254982, 51255009, 51255036-51255037, 51255040, 51255068-51255118, 51255137, 51255141, 51255158, 51255195, 51255249-51255297, 51255319-51255366, 51255377-51255379, 51255382-51255390, 51255397-51255406, 51255410-51255411
651EFEMP120.9824561403508826148256094214, 56094273-56094279, 56102127-56102132, 56103811, 56103824-56103829, 56103839-56103843
652FANCL20.99911347517731112858393000
653PEX1320.997524752475253121261258872-61258874
654ATP6V1B120.972762645914442154271163086, 71163099-71163102, 71163107, 71163127-71163130, 71187185-71187191, 71188051-71188054, 71188062-71188066, 71188071-71188079, 71192142-71192148
655MCEE20.979284369114881153171337195, 71337200-71337208, 71337243
656DYSF20.9930817610062944636071693973-71693986, 71753403-71753410, 71753413, 71753416-71753425, 71753476, 71783159-71783166, 71827924, 71827927
657SPR20.6844783715012724878673114562-73114738, 73114749-73114769, 73114780-73114805, 73114816, 73114819, 73114824-73114833, 73114844-73114855
658ALMS120.989603326935381301250473612997-73613095, 73613099, 73613237-73613238, 73613246-73613248, 73613259-73613261, 73613265, 73613268, 73613272, 73676489, 73679568-73679576, 73679586, 73827996-73828002, 73828342
659SLC4A520.9915055653192729341474460558-74460565, 74460615-74460617, 74460625, 74479423-74479429, 74479448-74479450, 74513016-74513017, 74513020-74513021, 74513027-74513029
660DCTN120.9929632525410527383774590479, 74590484-74590485, 74590488, 74590530-74590540, 74592662-74592667, 74593683, 74596533, 74597886, 74598128, 74598131, 74598134
661MOGS20.9868735083532233251474692091-74692110, 74692145, 74692191, 74692205-74692207, 74692257-74692258, 74692261-74692262, 74692269-74692271, 74692370
662HTRA220.81771968046478251137774757134-74757155, 74757174-74757219, 74757235-74757254, 74757274-74757277, 74757281-74757293, 74757301-74757305, 74757324-74757357, 74757382-74757390, 74757423-74757451, 74757459-74757465, 74757504-74757528, 74757540-74757576
663SUCLG120.994236311239196104184686312, 84686315-84686318, 84686327
664GGCX20.997364953886696227785781399, 85782612, 85785672, 85788009, 85788524, 85788529
665SFTPB20.9895287958115212114685889198-85889204, 85890837, 85895283-85895286
666REEP120.947194719471953260686564602-86564633
667EIF2AK320.96210086541331127335188861853-88861854, 88926497, 88926557, 88926564, 88926567, 88926609-88926638, 88926641, 88926649-88926654, 88926661-88926671, 88926679-88926687, 88926693-88926699, 88926704-88926734, 88926744-88926751, 88926756-88926773
668RPIA20.987179487179491293688991263, 88991266-88991268, 88991279-88991282, 88991292-88991295
669TMEM12720.8493723849372410871796930876-96930888, 96930899, 96930908-96930934, 96930980-96931020, 96931028-96931032, 96931062, 96931070, 96931075, 96931088-96931089, 96931104-96931119
670SNRNP20020.99984401809391641196955631
671ZAP7020.8989247311828188186098340520-98340566, 98340593-98340598, 98340601, 98340615-98340616, 98340621-98340622, 98340686-98340722, 98340734-98340779, 98340812-98340816, 98340821, 98340826, 98340829-98340831, 98340840, 98340870-98340901, 98349675, 98354040-98354041, 98354231
672CNGA320.999520383693051208598996796
673RANBP220.982428940568481709675109336063-109336091, 109336109, 109336123-109336129, 109347320, 109357110-109357117, 109363167, 109363214-109363220, 109367754, 109368104-109368110, 109371385-109371391, 109378557, 109382787-109382793, 109382940-109382946, 109383268-109383274, 109383315-109383321, 109383354-109383376, 109383968-109384013, 109397755, 109397758, 109399080
674NPHP120.98180924287119372034110881452, 110881459, 110881462, 110886767-110886794, 110917744-110917749
675MERTK20.97733333333333683000112656313-112656373, 112740534, 112760696, 112786427, 112786430-112786433
676PAX820.9963045084996351353113977692, 113994205-113994207, 113999662
677GLI220.830707834488558064761121555013-121555018, 121555024-121555037, 121708963-121708985, 121708994-121709017, 121712925, 121712928-121712929, 121712940-121712943, 121712960, 121712971-121712974, 121712977, 121726298-121726309, 121726312-121726314, 121726318, 121726322, 121726447, 121726474-121726491, 121728013, 121728146-121728148, 121728160-121728161, 121728164-121728166, 121729614, 121729623, 121729634-121729636, 121742257, 121743885, 121745804, 121745820-121745822, 121745826, 121745829-121745837, 121745852, 121745919-121745925, 121745932, 121746041-121746042, 121746045-121746053, 121746056-121746057, 121746068-121746556, 121746625-121746641, 121746701-121746737, 121746774, 121746795-121746835, 121746853-121746892, 121747064-121747069, 121747158, 121747190, 121747395-121747396, 121747637-121747639
678BIN120.99158249158249151782127808410, 127808419-127808423, 127816619-127816625, 127834207, 127834215
679PROC20.867965367965371831386128178881, 128180493-128180517, 128180610-128180737, 128180743-128180747, 128180855, 128180864, 128180885, 128180913-128180917, 128180932, 128180941-128180946, 128180956-128180963, 128180976
680CFC120.69047619047619208672131279058-131279080, 131279393, 131279622, 131279669-131279672, 131279681-131279683, 131279688, 131280368-131280477, 131280794-131280813, 131285291-131285320, 131285337-131285339, 131285342, 131285418-131285428
681RAB3GAP120.9976238968092372946135815591, 135815596, 135887590-135887593, 135926202
682LCT20.99809820193638115784136558237-136558241, 136570410, 136570456, 136590746, 136590751-136590753
683MCM620.99107866991079222466136615467, 136615497, 136615507, 136616958-136616959, 136630341-136630351, 136633895-136633897, 136633900, 136633905, 136633912
684ZEB220.97777777777778813645145147379-145147385, 145157093, 145274845-145274917
685MMADHC20.9696969696969727891150438674-150438700
686NEB20.997446680684895119974152346485-152346487, 152432716-152432719, 152432764-152432771, 152432787, 152432790, 152432815-152432820, 152432829-152432835, 152432838-152432844, 152432862-152432864, 152482049-152482057, 152482060-152482061
687CACNB420.97312859884837421563152698426-152698429, 152698480, 152698483, 152698488, 152698498-152698504, 152955463-152955490
688SCN2A20.99086075108009556018166171981-166171999, 166179963, 166210707-166210708, 166210711, 166211026-166211038, 166211132-166211136, 166237659-166237663, 166237668, 166237674-166237680, 166237693
689GALNT320.9957939011566881902166611237-166611238, 166611515-166611520
690SCN9A20.99662959218065205934167083163-167083164, 167083167, 167085289-167085301, 167141091-167141093, 167145142
691SLC25A1220.9965635738831672037172725333, 172750713-172750718
692ITGA620.942002442002441903276173292517-173292698, 173330315-173330322
693CHN120.9978260869565231380175869638-175869640
694HOXD1320.627906976744193841032176957619-176957993, 176958003-176958006, 176958012-176958016
695AGPS20.931714719271621351977178257518, 178257582-178257612, 178257615-178257617, 178257628-178257638, 178257648-178257663, 178257691-178257711, 178346802-178346805, 178346810-178346812, 178346817-178346820, 178362424-178362449, 178362479-178362493
696PRKRA20.9543524416135943942179315702-179315744
697TTN20.99893264703535107100248179392336-179392352, 179392393, 179410780, 179415818, 179415940, 179418735-179418741, 179425142-179425157, 179425469, 179425480-179425481, 179443401-179443405, 179446873, 179447785-179447787, 179447790-179447796, 179482191-179482193, 179498553-179498557, 179505357, 179517230-179517236, 179523799, 179554034, 179575560, 179575564, 179580238-179580251, 179585921, 179587617, 179631320-179631322, 179633459, 179633467-179633470
698CERKL20.98936835522201171599182403944, 182521502-182521503, 182521516-182521524, 182521532-182521533, 182521619-182521621
699COL3A120.98886616678028494401189849960, 189850432, 189850435, 189850438, 189856953-189856954, 189860463, 189860471, 189860857, 189861168, 189861171, 189861191-189861202, 189861206-189861210, 189871666-189871677, 189871681-189871687, 189871698, 189871710
700COL5A220.99288888888889324500189910575-189910579, 189910584, 189910590-189910596, 189914121, 189916170, 189916898, 189916912-189916915, 189916923, 189928724, 189929302-189929310, 189932799
701SLC40A120.9994172494172511716190426711
702PMS120.99214005001786222799190708757, 190719036-190719037, 190719041-190719042, 190719078-190719081, 190719103, 190719107-190719108, 190719153-190719155, 190728693, 190728748, 190732525, 190732558-190732560, 190738328
703STAT120.97026187305814672253191854366-191854368, 191854371, 191859792-191859796, 191859837-191859856, 191859885-191859912, 191862607-191862608, 191864381-191864388
704HSPD120.9994192799070811722198351857
705CASP1020.98980242192479161569202050667-202050670, 202050688-202050694, 202050786-202050790
706ALS220.99517490952955244974202569869, 202571613-202571616, 202622414-202622420, 202622431-202622438, 202626390-202626393
707BMPR220.9987167147898643117203242271, 203378501, 203378507-203378508
708NDUFS120.98031135531136432184206991276-206991318
709FASTKD220.9995311767463712133207635947
710ACADL20.9976798143851531293211089911, 211089914, 211089930
711CPS120.99422607150788264503211455580-211455583, 211456637-211456639, 211507211-211507214, 211507223-211507228, 211507241, 211507251-211507258
712ABCA1220.99139702105804677788215797393-215797403, 215797423, 215797426-215797435, 215809751-215809769, 215809792, 215809822, 215846940, 215851398, 215854106, 215854168-215854187, 215854306
713SMARCAL120.997905759162362865217297467, 217297522, 217315619, 217329365, 217347569-217347570
714PNKD20.98791018998273141158219204554-219204557, 219204568-219204570, 219204574, 219204577, 219204763, 219204766, 219204847, 219209276, 219209601
715BCS1L20.9992063492063511260219527336
716CYP27A120.99122807017544141596219646911-219646914, 219646954-219646963
717WNT10A20.850079744816591881254219745718-219745720, 219745724-219745729, 219745735-219745736, 219745757, 219745764-219745777, 219745797-219745809, 219757513-219757521, 219757539-219757541, 219757546-219757563, 219757578-219757580, 219757583, 219757601-219757605, 219757608-219757609, 219757612, 219757616, 219757644-219757685, 219757694-219757717, 219757757-219757769, 219757777, 219757786, 219757790-219757793, 219757817, 219757867-219757868, 219757883, 219757892-219757903, 219757915-219757916, 219757927-219757929
718DES20.796886058032552871413220283217-220283219, 220283233-220283265, 220283271, 220283277, 220283280-220283286, 220283292-220283363, 220283374, 220283378-220283381, 220283385-220283388, 220283399-220283456, 220283507-220283510, 220283583-220283629, 220283638-220283677, 220283701-220283712
719OBSL120.817255315410310405691220416251-220416301, 220416307-220416364, 220416374, 220416377-220416386, 220416406-220416444, 220416456-220416473, 220416860-220416862, 220416872, 220416875, 220417274-220417278, 220417284-220417286, 220417289-220417305, 220417311, 220417324-220417332, 220417335, 220417356-220417403, 220417407, 220417411-220417416, 220417419, 220417607-220417616, 220417619, 220417638, 220417664-220417667, 220417710-220417746, 220420868-220420870, 220420877, 220420880-220420888, 220420894-220420901, 220432920, 220434988, 220434994-220435000, 220435005, 220435071-220435080, 220435084-220435085, 220435202-220435204, 220435210-220435211, 220435222-220435227, 220435230-220435236, 220435243, 220435251, 220435293-220435295, 220435300-220435303, 220435312-220435954
720PAX320.9729907773386411518223163254-223163294
721COL4A420.99624802527646195064227942708-227942713, 227963490-227963496, 227966622, 227967860-227967864
722COL4A320.99142230201476435013228029443-228029447, 228029458-228029459, 228029465-228029468, 228029495, 228147240-228147242, 228153948, 228153951, 228162415-228162424, 228162428-228162431, 228162439-228162440, 228163465, 228163471, 228163475-228163477, 228163480, 228163484-228163487
723SLC19A320.9966465459423251491228563972-228563975, 228564144
724CHRND20.99613899613961554233390937, 233390952-233390955, 233398685
725CHRNG20.99613899613961554233404488, 233405312-233405315, 233406157
726UGT1A120.98501872659176241602234668947-234668954, 234668958-234668959, 234668963-234668975, 234668993
727COL6A320.9954898258863439534238244869-238244899, 238249095, 238249448, 238275919, 238283098, 238283110, 238283113, 238283138-238283141, 238283144, 238283447
728AGXT20.98982188295165121179241808349-241808358, 241816980, 241816983
729D2HGDH20.906130268199231471566242674640-242674653, 242674671, 242674690-242674700, 242674707, 242674725-242674727, 242674741, 242674755, 242674862, 242680464, 242690755-242690758, 242695422-242695423, 242695426, 242707163-242707172, 242707175-242707182, 242707193, 242707206, 242707228, 242707235, 242707252, 242707259, 242707269-242707270, 242707281-242707286, 242707293-242707359, 242707361-242707364, 242707380-242707382
730C20orf54200.98510638297872211410744358-744377, 745998
731IDH3B200.99654576856649411582644348-2644351
732AVP200.242424242424243754953063276-3063448, 3063623-3063824
733PANK2200.6952714535901952217133869770, 3869793-3869794, 3869813-3869819, 3869834-3870038, 3870044-3870069, 3870076-3870149, 3870158-3870200, 3870212-3870375
734PROKR2200.99826388888889211525283034, 5294706
735FERMT1200.992625368731561520346088208, 6088215, 6088226-6088227, 6088248-6088251, 6088262-6088266, 6100122, 6100125
736JAG1200.9729286300246199365710629755, 10653378-10653380, 10653392, 10653543-10653576, 10653652-10653654, 10654105-10654114, 10654118, 10654121-10654122, 10654124-10654130, 10654132-10654133, 10654139, 10654145-10654178
737C20orf7200.9807321772639720103813782132-13782148, 13782202-13782204
738THBD200.85358796296296253172823028451, 23028633, 23028642-23028643, 23028916-23028970, 23029231, 23029280-23029290, 23029296-23029299, 23029304, 23029308-23029313, 23029319-23029328, 23029335-23029338, 23029436-23029478, 23029522, 23029544, 23029560-23029562, 23029583, 23029588-23029592, 23029602-23029606, 23029627-23029632, 23029646, 23029651-23029656, 23029670-23029682, 23029713-23029715, 23029724, 23029739, 23029743-23029745, 23029769-23029771, 23029787-23029793, 23029824, 23029840, 23029854-23029859, 23029870-23029909, 23030045-23030050
739SNTA1200.81093544137022287151831996365-31996366, 32000211, 32000399-32000401, 32031146-32031426
740GSS200.999298245614041142533539615
741GDF5200.92363877822045115150634022398-34022400, 34022434-34022442, 34022448, 34022453, 34025090-34025095, 34025102, 34025112-34025116, 34025119-34025122, 34025132-34025168, 34025264-34025293, 34025527-34025544
742SAMHD1200.9883040935672522188135579839-35579857, 35579862, 35579867, 35579870
743HNF4A200.999298245614041142543052783
744ADA200.9642857142857139109243255142-43255145, 43257761, 43257775, 43280216-43280248
745CTSA200.9772879091516434149744520217-44520219, 44520225, 44520229-44520233, 44520238-44520240, 44520244, 44520246-44520255, 44520559-44520563, 44523633, 44523640-44523644
746SLC2A10200.9883148831488319162645338376-45338379, 45354674-45354684, 45354901-45354904
747SALL4200.9905123339658430316250408332, 50408345-50408348, 50418818, 50418824-50418840, 50418842, 50418856, 50418878-50418882
748VAPB200.916666666666676173256964516-56964573, 57014074-57014076
749STX16200.978527607361962197857244396-57244401, 57244407-57244416, 57244440-57244444
750GNAS200.95799457994583173857415187-57415188, 57415191, 57415256-57415261, 57415270-57415273, 57415295-57415299, 57415319-57415320, 57415323-57415332, 57415604
751GNAS200.88631984585742354311457428425-57428427, 57428442, 57428452, 57428690, 57428693, 57428699, 57428711, 57428715-57428720, 57429097-57429099, 57429426-57429427, 57429437-57429440, 57429465-57429510, 57429526, 57429610-57429614, 57429623, 57429628, 57429636-57429640, 57429651-57429657, 57429687-57429690, 57429697, 57429720-57429762, 57429771-57429810, 57429822, 57429829, 57429833-57429836, 57429848-57429859, 57429869-57429870, 57429874, 57429923, 57429926-57429928, 57429948, 57429972-57430010, 57430044-57430047, 57430102-57430106, 57430110-57430132, 57430144-57430147, 57430196, 57430205, 57430213, 57430221-57430225, 57430245-57430247, 57430264-57430312, 57430374-57430388
752EDN3200.983263598326361271757896246-57896248, 57899494-57899502
753COL9A3200.92554744525547153205561448417-61448494, 61448924-61448980, 61453982, 61456340, 61456354, 61456367-61456373, 61460314-61460318, 61460321-61460322, 61461765
754CHRNA4200.90764331210191174188461978093, 61978125, 61981095, 61981104, 61981134, 61981214, 61981227, 61981339-61981347, 61981374, 61981384-61981386, 61981389-61981394, 61981427-61981444, 61981450-61981479, 61981563, 61981578, 61981599-61981607, 61981616, 61981915-61981917, 61981927-61981929, 61987416-61987423, 61987723-61987726, 61990933, 61992449-61992517
755KCNQ2200.85070637647957391261962038018, 62038050-62038052, 62038339-62038369, 62038609, 62038615-62038621, 62038644-62038647, 62046448-62046455, 62073781-62073784, 62076647-62076671, 62078140-62078150, 62103521-62103816
756SOX18200.120346320346321016115562679525-62679539, 62679549-62679554, 62679629-62679667, 62679681-62679685, 62679705-62679707, 62679721-62679775, 62679781-62680315, 62680512-62680869
757APP210.964115866839683231327423336-27423337, 27423405-27423431, 27462344-27462351, 27542882, 27542891-27542935
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866SH3BP240.8476036618201428318572819951-2820117, 2831414-2831430, 2831518, 2831529-2831530, 2831795-2831798, 2831802, 2834085-2834096, 2834717-2834730, 2834737-2834774, 2835508-2835534
867HTT40.9663803160462431794293076553-3076603, 3076604-3076815, 3088719, 3123030-3123033, 3123043-3123047, 3123079-3123084, 3123090-3123097, 3149782, 3149792, 3182289-3182292, 3182297, 3201569, 3213771, 3213777-3213779, 3213783, 3213790-3213794, 3213798, 3213832, 3215754, 3225238, 3234912, 3234923-3234925, 3234952, 3234961, 3240669, 3240686
868DOK740.897029702970315615153465103-3465156, 3465233-3465278, 3475221-3475224, 3475236-3475238, 3475278-3475285, 3478146-3478152, 3478155, 3478161-3478165, 3478171, 3478245-3478246, 3491504, 3494640, 3494648, 3494651, 3494656, 3494665-3494666, 3494798, 3494841-3494844, 3494847-3494848, 3494880-3494890
869DOK740.95939086294416245913494640, 3494648, 3494651, 3494656, 3494665-3494666, 3494798, 3494841-3494844, 3494847-3494848, 3494880-3494890
870MSX140.583333333333333809124861627-4861971, 4864496-4864518, 4864790-4864796, 4864799, 4864802-4864805
871EVC240.988795518207284439275570272, 5586428, 5633751, 5667301-5667322, 5710066, 5710086, 5710089, 5710112-5710115, 5710143-5710146, 5710169-5710176
872EVC40.9321920107418620229795713108-5713271, 5733366, 5754737, 5755629-5755630, 5798786, 5798794, 5798797, 5800383-5800386, 5800404-5800407, 5800422, 5800458, 5800462, 5809928-5809946, 5809967
873WFS140.995510662177331226736302927, 6303300, 6303312, 6303328-6303331, 6303554-6303555, 6303876-6303878
874SLC2A940.998151571164513162310020654, 10020662, 10020678
875CC2D2A40.999588731235862486315482406, 15591203
876PROM140.978829869130155259815987583-15987584, 15993946-15993957, 16000078-16000092, 16002126-16002127, 16008309-16008313, 16017851-16017860, 16040592-16040593, 16077487-16077493
877QDPR40.8544217687074810773517493922, 17493925, 17513573-17513677
878CNGA140.92105263157895180228047938604-47938607, 47954600-47954695, 47972922-47972924, 47972931-47972936, 47972952-47972973, 47973015-47973027, 47973057-47973088, 47973102-47973103, 47973110, 47973113
879SGCB40.958202716823414095752894239, 52895922, 52895925, 52896014-52896017, 52904393-52904425
880KIT40.9771409075400967293155524187-55524224, 55524235-55524248, 55565877-55565888, 55598103-55598104, 55602731
881SLC4A440.9960426179604313328572306442, 72306445, 72352669, 72352719-72352725, 72423506-72423508
882COQ240.82770562770563199115584193271, 84205665-84205682, 84205704-84205748, 84205758-84205773, 84205780-84205788, 84205807-84205815, 84205821-84205827, 84205849-84205903, 84205906-84205910, 84205913-84205936, 84205947-84205956
883CDS140.9898989898989914138685504628, 85555050, 85555053-85555057, 85560086-85560087, 85560107-85560108, 85569772-85569773, 85569777
884PKD240.82146542827657519290788928886-88929352, 88929367-88929407, 88929435-88929441, 88929475-88929476, 88929479-88929480
885SNCA40.910165484633573842390743426, 90749301-90749303, 90749313-90749335, 90756698-90756708
886MTTP40.9992551210428322685100528029, 100530057
887MANBA40.9996212121212112640103681970
888CISD240.9117647058823536408103808506-103808522, 103808569-103808587
889HADH40.99788359788362945108911146-108911147
890CFI40.9988584474885821752110673644, 110723112
891PITX240.9835897435897416975111539523-111539525, 111542404, 111542407-111542418
892ANK240.996125989557024611874114161682-114161683, 114161686, 114161721, 114213610-114213611, 114213614, 114213617-114213633, 114213646-114213650, 114213653, 114274354-114274358, 114274369-114274370, 114274374, 114274715-114274722
893BBS740.97020484171322642148122749861-122749864, 122756347, 122765138, 122775872-122775875, 122775920, 122775924, 122775972-122775975, 122782771-122782818
894MFSD840.98265895953757271557128851964-128851968, 128859945-128859948, 128859957-128859974
895MMAA40.9984089101034221257146576567, 146576571
896NR3C240.9969543147208192955149075962, 149075965-149075971, 149075992
897FGG40.99192364170338111362155526123-155526129, 155533341-155533344
898CTSO40.9689440993788830966156860577-156860579, 156860590, 156860593, 156874872, 156874876, 156874896, 156874899-156874903, 156874960-156874962, 156874986-156874999
899GLRB40.97255689424364411494158041713-158041722, 158041729-158041755, 158060024-158060027
900GK40.99157641395909141662166199386-166199392, 166199426-166199432
901SLC25A440.87625418060201111897186064527-186064637
902SDHA50.95739348370927851995218471-218475, 218490, 218492-218495, 218499-218512, 223682-223683, 233709, 236646-236684, 240518-240527, 251108-251114, 254609, 256509
903SLC6A1950.994225721784781119051201784-1201790, 1208943-1208944, 1213646, 1216780
904TERT50.7990585466313668333991253876-1253879, 1253891-1253895, 1254606, 1271301-1271304, 1279519-1279532, 1279540, 1279543-1279549, 1280371, 1280374-1280381, 1280401-1280405, 1293435-1293442, 1293569-1293600, 1293614-1293640, 1293723-1293753, 1294045, 1294286-1294323, 1294343-1294379, 1294415, 1294430, 1294434, 1294464, 1294502, 1294506-1294507, 1294531, 1294535, 1294539-1294540, 1294553-1294781, 1294886-1295104
905SLC6A350.988727858293082118631406311-1406322, 1406352-1406356, 1406361-1406362, 1414808, 1414811
906SDHA50.79510703363914673271589426-1589432, 1594510-1594569
907NDUFS650.9786666666666783751801532, 1801541-1801547
908MTRR50.99678604224059721787869276, 7885933-7885934, 7885939-7885940, 7885943, 7897348
909CCT550.9901599015990216162610256208-10256218, 10262681-10262685
910DNAH550.983711711711712261387513717620, 13754325, 13810214, 13810230, 13810253-13810255, 13810270-13810273, 13810292-13810293, 13810296-13810302, 13810313-13810319, 13810330, 13810333-13810334, 13810341, 13810356, 13811886, 13830862, 13841182-13841183, 13862737-13862759, 13867998-13867999, 13871044-13871047, 13894790, 13901463-13901510, 13916457-13916564, 13919444-13919447
911ANKH50.997971602434083147914769100, 14769103, 14871514
912FAM134B50.85475234270415217149416483475, 16616761-16616769, 16616785, 16616793-16616797, 16616801, 16616807-16616813, 16616816-16616817, 16616833, 16616836-16616873, 16616883-16616888, 16616898-16616900, 16616938-16617080
913AMACR50.9773716275021826114934004778, 34007934-34007936, 34007939, 34007942, 34007945-34007946, 34007970-34007982, 34008006-34008008, 34008014-34008015
914NIPBL50.98371954842543137841536995758, 36995787, 37022443, 37036481-37036482, 37036492, 37036505-37036531, 37036538-37036589, 37048628, 37048632-37048636, 37048643-37048651, 37048657-37048664, 37048674-37048682, 37048698-37048702, 37048705-37048715, 37048719, 37048767, 37048771, 37048775
915LIFR50.973588342440887329438482714-38482716, 38482724, 38482760-38482769, 38490366-38490374, 38490384-38490393, 38506022, 38506034, 38506075-38506113, 38506144-38506148, 38506152-38506159
916OXCT150.994241842610369156341861422-41861423, 41862780-41862786
917GHR50.998435054773083191742718970, 42718979-42718980
918ITGA250.9850535815002853354652285299-52285349, 52322677, 52347294
919MOCS250.99625468164794126752405555
920ERCC850.9890848026868213119160170457, 60170466-60170469, 60200631-60200635, 60200681, 60224746, 60224765
921NDUFAF250.99411764705882351060448714-60448716
922SMN250.99887005649718188569362949
923SMN250.99887005649718188570238373
924MCCC250.994680851063839169270898408, 70945031, 70945035-70945041
925HEXB50.91561938958707141167173981098, 73981118-73981169, 73981191-73981196, 73981210, 73981213-73981215, 73981220-73981222, 73981240-73981242, 73981244-73981253, 73981261-73981302, 73981348-73981349, 73985192-73985208, 73985215
926AP3B150.989649923896534328577311366, 77411974, 77411982, 77411985, 77412000, 77412007-77412013, 77458682-77458686, 77458719-77458726, 77477361, 77477368-77477370, 77536737, 77536741, 77563397, 77563406-77563407
927ARSB50.80524344569288312160278280760-78281071
928RASA150.93288804071247211314486564398-86564416, 86564553-86564567, 86564696, 86637111, 86642489, 86669980-86670137, 86682714-86682720, 86685327-86685330, 86685340-86685344
929MEF2C50.992967651195510142288024362-88024363, 88024382, 88024392, 88024432, 88024437-88024439, 88027677-88027678
930GPR9850.991120976692561681892189854713-89854718, 89854726-89854732, 89914973-89914992, 89933597-89933615, 89948169, 89971940-89971946, 89981739-89981763, 90002118-90002124, 90007056, 90024551-90024557, 90049606-90049612, 90101104-90101106, 90101111, 90101116-90101118, 90101128-90101133, 90144555-90144602
931PCSK150.996021220159159226295729014-95729016, 95729019-95729022, 95743977, 95743982
932WDR3650.98074229691877552856110428187, 110432816-110432822, 110436335-110436355, 110436369, 110436380, 110436407-110436408, 110439553, 110448851, 110454764, 110459616-110459622, 110459842, 110459859, 110459862, 110459879-110459887
933APC50.9985935302391128532112111326-112111328, 112128184-112128186, 112128195-112128200
934HSD17B450.99004975124378222211118835123-118835126, 118835141-118835143, 118835202-118835204, 118861676, 118861709-118861718, 118872187
935HSD17B450.9609929078014211282118861676, 118861709-118861718
936ALDH7A150.9981481481481531620125930755-125930757
937LMNB150.865985235661562361761126113201-126113232, 126113238-126113282, 126113349-126113385, 126113407-126113427, 126113438-126113530, 126154629-126154636
938FBN250.99015905710035868739127595148-127595155, 127645675-127645694, 127645720, 127645740, 127668691, 127702070, 127702085-127702087, 127702091-127702105, 127702108, 127702117-127702118, 127702122, 127713482-127713484, 127873071, 127873142, 127873169-127873175, 127873192-127873202, 127873206-127873207, 127873275-127873281
939SLC22A550.98088410991637321674131705693, 131705807-131705808, 131705814-131705821, 131705824-131705828, 131705844-131705846, 131705911-131705914, 131705946-131705950, 131705953-131705954, 131705956-131705957
940TGFBI50.9770955165692472052135364770, 135364794, 135364800-135364802, 135364812-135364813, 135364820-135364826, 135364835, 135364839-135364843, 135364852-135364878
941MYOT50.95257181028724711497137213217-137213234, 137221737-137221750, 137221777-137221778, 137221791-137221793, 137221806, 137221821, 137221851, 137221867, 137221885, 137222902-137222923, 137222966-137222968, 137223058, 137223062, 137223067, 137223071
942SIL150.999278499278511386138282935
943MATR350.98899371069182282544138651853-138651859, 138651868-138651877, 138655128-138655135, 138658517, 138665034-138665035
944SRA150.99296765119555711139931669-139931673
945DIAPH150.940822204765652263819140953180, 140953192-140953199, 140953205-140953212, 140953241, 140953300, 140953347-140953402, 140953414-140953421, 140953435-140953525, 140953528-140953537, 140953555-140953578, 140953591, 140953662-140953674, 140998427-140998429, 140998473
946POU4F350.968534906588321017145719111-145719125, 145719141, 145719149-145719153, 145719566-145719575, 145719817
947PPP2R2B50.998498498498521332146017888, 146077642
948SPINK550.9990867579908733285147478806, 147478819-147478820
949ADRB250.9983896940418721242148206732, 148207105
950SH3TC250.9984484096198663867148384419-148384421, 148407406, 148407508, 148407708
951PDE6A50.99457994579946142583149264097, 149301260-149301272
952TCOF150.98737373737374554356149737312, 149737322-149737326, 149737359-149737403, 149754282, 149754327, 149755464, 149776001
953SGCD50.996551724137933870156186307-156186309
954ITK50.9983896940418731863156679645-156679647
955NIPAL450.95289079229122661401156887207, 156887213, 156887231-156887240, 156887265, 156887268-156887270, 156887273, 156887277-156887278, 156887294-156887331, 156887356-156887361, 156887364-156887365, 156899710
956GABRG250.9980620155038831548161580187-161580189
957NKX2-550.9558974358974443975172660043, 172660064-172660069, 172660147, 172660153-172660154, 172661847-172661852, 172661871-172661873, 172661898-172661904, 172661918, 172661971, 172661975, 172661980-172661985, 172662001, 172662009-172662010, 172662013-172662017
958MSX250.87189054726368103804174151713-174151783, 174151789, 174151792-174151797, 174151823, 174151844-174151849, 174151871-174151874, 174151888, 174151892-174151901, 174151920, 174151930-174151931
959NSD150.9992584352984868091176694711, 176719153, 176721963-176721966
960F1250.99140893470795582176830309, 176830312-176830313, 176830317-176830318
961F1250.98268398268398321848176830309, 176830312-176830313, 176830317-176830318, 176830518-176830525, 176830530, 176830536-176830541, 176830544-176830546, 176830891-176830895, 176830941, 176830971, 176830983, 176836512
962NHP250.99783549783551462177576828
963GRM650.811693242217164962634178416002-178416034, 178421455-178421472, 178421481-178421486, 178421507-178421945
964SQSTM150.845049130763422051323179247937-179248141
965FLT450.952101661779081964092180030320-180030336, 180038331-180038358, 180038375, 180045822-180045826, 180045876-180045920, 180046021-180046048, 180046087, 180046323-180046330, 180046346, 180046354-180046355, 180046358, 180046693, 180076488-180076545
966FOXC160.36341756919374105816621610712-1610749, 1610756-1610772, 1610830-1610850, 1610856, 1610861, 1610868, 1610885-1610888, 1610912-1610918, 1610961, 1610965-1610990, 1610997, 1611033-1611076, 1611083-1611091, 1611098-1611103, 1611107-1611119, 1611141-1611148, 1611169-1611203, 1611210-1611237, 1611279-1612045, 1612062-1612070, 1612140, 1612142-1612144, 1612146, 1612149, 1612153, 1612162-1612168, 1612179-1612185
967TUBB2B60.9192825112107610813383225218-3225276, 3225377-3225384, 3225442-3225467, 3225479, 3225490-3225497, 3225572, 3227723-3227727
968DSP60.99953574744661486167579643, 7579648-7579650
969TFAP2A60.9726027397260336131410398774-10398775, 10398780, 10404755, 10404759, 10404769, 10404808, 10404813, 10404827, 10410274-10410276, 10410279-10410280, 10410350-10410351, 10410464-10410467, 10410481, 10410527-10410530, 10410533-10410543
970GCM260.999342537804081152110882018
971DTNBP160.9488636363636454105615533473-15533476, 15533479, 15627630, 15663046, 15663049, 15663055-15663100
972ATXN160.95588235294118108244816306679, 16306683, 16306706-16306707, 16306710, 16306886-16306888, 16306891, 16327410, 16327417, 16327531, 16327534, 16327602-16327605, 16327834, 16327852-16327858, 16327867, 16327871-16327881, 16327885-16327955
973NHLRC160.993265993265998118818122484, 18122526, 18122678, 18122692-18122695, 18122698
974ALDH5A160.85670916818458236164724495305-24495477, 24495497-24495530, 24495533-24495539, 24495548-24495555, 24503532-24503544, 24515422
975HFE60.9684813753581733104726087686, 26087713-26087744
976HLA-H60.67624375029855861-29855888, 29855891-29855895, 29855979, 29855989-29856001, 29856245-29856290, 29856300-29856405, 29856498-29856504, 29856513-29856549
977CFB60.999736911339121380131916234
978TNXB60.9512700881285694192931976902, 31976916, 31976926, 31977142-31977170, 31977388-31977395, 31977528, 31977548, 31977994-31978002, 31978498-31978517, 31979441-31979454, 31979501-31979508, 31979638
979CYP21A260.89180107526882161148832006200-32006245, 32007200-32007206, 32007404-32007410, 32007842-32007850, 32007883-32007890, 32007956-32007982, 32008448-32008455, 32008697-32008730, 32008893-32008907
980TNXB60.986801791185481681272932009648-32009664, 32009877-32009905, 32010123-32010130, 32010279-32010289, 32010732, 32011214-32011238, 32012295-32012308, 32012355-32012362, 32023648, 32035451-32035460, 32035466-32035471, 32047085, 32064023, 32064026-32064032, 32064043-32064046, 32064050, 32064126-32064130, 32064144-32064145, 32064236, 32064511-32064524, 32064574, 32064579
981HLA-DQA160.973958333333332076832610387-32610406
982HLA-DQB160.6259541984732829478632629224-32629234, 32629817-32629827, 32629847, 32629857-32629859, 32629884-32629886, 32629934-32629949, 32629963, 32629971, 32629974-32629980, 32632575-32632653, 32632684-32632844
983COL11A260.9641143734408187521133137196-33137222, 33138119-33138133, 33138136, 33138141-33138150, 33138370-33138377, 33139328, 33139845-33139846, 33139849-33139856, 33140066-33140085, 33140109-33140155, 33140346, 33140353, 33140366, 33140372-33140377, 33140403, 33141650-33141683, 33141812, 33141815, 33153519, 33159995
984SYNGAP160.87872023809524489403233388042-33388108, 33393575-33393680, 33400002, 33402981, 33405780-33405798, 33405808-33405837, 33410708-33410712, 33410911-33410915, 33410921-33410926, 33410980-33410982, 33411315, 33411318, 33411333-33411335, 33411339-33411344, 33411349, 33411394-33411395, 33411461, 33411470-33411472, 33411482-33411708, 33411721
985FANCE60.89633767846058167161135420330-35420349, 35420355, 35420359-35420363, 35420367-35420424, 35420427-35420445, 35420467-35420514, 35420559-35420570, 35425356, 35425359-35425361
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987MOCS160.9895342752485620191139874267-39874278, 39874727-39874733, 39893583
988GUCA1A60.996699669967260642147121-42147122
989PRPH260.9865513928914514104142672160-42672170, 42672176, 42672179-42672180
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993RUNX260.86270753512133215156645390330-45390535, 45390638-45390639, 45390643-45390647, 45480004, 45514772
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1001SLC17A560.9368279569892594148874363516-74363609
1002MYO660.9966303784344213385876564998-76565000, 76602385, 76623803-76623809, 76623817-76623818
1003LCA560.999044890162372209480196773, 80202333
1004BCKDHB60.9380831212892373117980816459-80816469, 80816523-80816529, 80881055-80881093, 80881103-80881107, 80982885-80982895
1005SLC35A160.992110453648928101488182729, 88218261-88218267
1006RARS260.995394358088668173788231235-88231242
1007NDUFAF460.98484848484848852897339010, 97339049-97339050, 97339101, 97339105, 97339173-97339174, 97339179
1008SIM160.9982616253802742301100841644-100841645, 100896033, 100896041
1009PDSS260.99561200107655454, 107780269-107780272, 107780275
1010SEC6360.97109067017083662283108279098-108279152, 108279195-108279205
1011OSTM160.884577114427861161005108395569-108395581, 108395586, 108395600-108395606, 108395633-108395639, 108395716-108395721, 108395727-108395729, 108395745-108395749, 108395756, 108395759-108395760, 108395771-108395830, 108395833-108395843
1012FIG460.9966960352422992724110053884-110053886, 110081478-110081481, 110106173-110106174
1013COL10A160.99461576113558112043116442345-116442346, 116443073-116443077, 116443104, 116443115-116443117
1014RSPH4A60.9995350999535112151116938389
1015GJA160.98607484769365161149121769097-121769104, 121769115-121769122
1016LAMA260.9967958987504309363129381026, 129381039-129381041, 129465121, 129513965-129513968, 129635890, 129635905-129635912, 129670486-129670487, 129674418, 129704308, 129714224, 129775368-129775374
1017ENPP160.894168466522682942778132129176-132129315, 132129333-132129336, 132129348-132129389, 132129410-132129415, 132171179-132171190, 132203485-132203548, 132203557-132203571, 132203574, 132203577-132203586
1018EYA460.97552083333333471920133769254-133769287, 133769305-133769312, 133777747-133777751
1019AHI160.9974937343358493591135759544, 135759568-135759575
1020PEX760.88477366255144112972137143827-137143876, 137143884-137143904, 137143916-137143917, 137143921-137143933, 137167228-137167233, 137167249, 137167258-137167261, 137167269, 137167295-137167307, 137219359
1021PEX360.9928698752228281122143792558-143792565
1022PLAGL160.9978448275862131392144262661, 144263233-144263234
1023STX1160.9618055555555633864144507850, 144507939, 144508009, 144508130-144508154, 144508403-144508405, 144508408, 144508421
1024EPM2A60.70582329317269293996146056334-146056626
1025IYD60.9563218390804638870150710605-150710613, 150719238, 150719245-150719248, 150719252, 150719259, 150719277-150719298
1026SYNE160.9935591422292917026394152457842-152457858, 152469428-152469431, 152485420-152485421, 152510541-152510542, 152532694, 152545740-152545742, 152545766-152545774, 152545783-152545799, 152577857, 152599266-152599271, 152599274, 152599287-152599290, 152599310, 152599316-152599317, 152599320, 152644665-152644669, 152644674-152644681, 152644718, 152644732, 152644737-152644747, 152644756, 152665284, 152694276-152694304, 152702270, 152725416, 152725435, 152730730, 152757098, 152757130, 152763300-152763302, 152763309-152763320, 152763330-152763333, 152782787-152782799, 152792821-152792822, 152792825, 152819881
1027PARK260.98927038626609151398161969941-161969946, 161969964, 161969967-161969971, 161969976, 161969983-161969984
1028TBP60.90294117647059991020170871010, 170871023-170871026, 170871029-170871058, 170871061, 170871064-170871067, 170871070, 170871078-170871085, 170871088-170871101, 170871120-170871147, 170881302-170881309
1029LFNG70.6184210526315843511402559496-2559896, 2564366, 2564896-2564897, 2564923, 2564928, 2564937, 2565079-2565106
1030PMS270.980687524140595025896013045-6013052, 6013149-6013156, 6022476-6022489, 6026959, 6027033-6027039, 6029441-6029452
1031TWIST170.3497536945812839660919156434, 19156461, 19156464-19156466, 19156524-19156528, 19156532, 19156537-19156541, 19156547, 19156552-19156553, 19156568-19156944
1032DNAH1170.9946949602122721357221583025-21583046, 21583192-21583196, 21630584-21630585, 21630908-21630915, 21630937-21630938, 21630941-21630947, 21630953, 21630958, 21726767, 21824137, 21882278-21882288, 21893976-21893978, 21894007, 21894014-21894019, 21894022
1033FAM126A70.999361430395911156623017934
1034KLHL770.998296422487223176123213767, 23213770-23213771
1035DFNA570.995305164319257149124742432-24742435, 24758810-24758812
1036HOXA170.989087301587311100827135314, 27135318-27135324, 27135380, 27135383, 27135391
1037HOXA1370.55698371893745517116727238908-27238914, 27239096-27239123, 27239131-27239133, 27239140, 27239147-27239150, 27239195-27239225, 27239254-27239696
1038GARS70.9936936936936914222030634567, 30634698, 30634701, 30634704, 30634708-30634710, 30651751-30651757
1039RP970.7597597597597616066633134879-33134886, 33148833-33148984
1040BBS970.997372372372377266433303939-33303941, 33303945, 33303956, 33303967-33303968
1041TXNDC370.999434069043581176737916469
1042GLI370.93632721905967302474342004544-42004549, 42004861, 42005123, 42005125-42005128, 42005136-42005139, 42005182-42005225, 42005245-42005249, 42005272, 42005293-42005295, 42005466-42005469, 42005475, 42005484, 42005526-42005531, 42005541-42005623, 42005650-42005670, 42005675-42005678, 42005731-42005737, 42005795, 42005806, 42005810-42005813, 42005844-42005850, 42005854, 42005872-42005882, 42005923-42005958, 42006013-42006056, 42079677
1043GCK70.997858672376873140144185226, 44185309-44185310
1044CCM270.9692883895131141133545039933-45039962, 45112375-45112381, 45113092, 45113910-45113911, 45113914
1045DDC70.9993069993071144350597002
1046EGFR70.9719240297275102363355086971-55087058, 55214367-55214369, 55220276-55220280, 55220288-55220289, 55220302-55220304, 55273058
1047GUSB70.9887525562372222195665432835-65432841, 65446961-65446973, 65447133, 65447157
1048ASL70.9168458781362116139565546917, 65547906, 65553888, 65553891, 65553894, 65554081-65554162, 65554263-65554280, 65554282-65554287, 65554297-65554300, 65554315
1049KCTD770.8344827586206914487066094052-66094195
1050SBDS70.99070385126162775366456158-66456164
1051NCF170.915151515151527082572640032-72640040, 72643682-72643710, 72644230-72644236, 72645924-72645930, 72648733-72648750
1052FKBP670.99288617886179798472742587-72742593
1053ELN70.9659770114942574217573442518-73442574, 73466273, 73466276, 73466284-73466288, 73466292, 73470728-73470729, 73470733, 73474276-73474278, 73477679, 73481105-73481106
1054NCF170.75959079283887282117374193639-74193672, 74197363-74197391, 74202413-74202432, 74202914-74202962, 74202973-74203048, 74203383-74203396, 74203407-74203464, 74203503-74203504
1055POR70.9774840920215446204375614212-75614213, 75614221, 75614225-75614228, 75614256, 75614269-75614270, 75614423-75614429, 75614456-75614465, 75614477-75614489, 75614523-75614525, 75615153-75615155
1056HSPB170.881877022653727361875932035, 75932043-75932046, 75932072, 75932080, 75932174-75932207, 75932254-75932274, 75932305, 75932312, 75932377-75932383, 75933469-75933470
1057HGF70.9922267946959317218781399241, 81399252-81399257, 81399260, 81399264-81399269, 81399275, 81399280-81399281
1058ABCB470.998177083333337384087031470-87031473, 87035648, 87083851, 87104743
1059AKAP970.9946264073695631172491609616, 91668059-91668070, 91682156-91682157, 91690629, 91690676, 91690691, 91707182-91707183, 91708598, 91714911, 91714915, 91714920, 91727487-91727488, 91732080-91732116
1060KRIT170.9941203075531413221191843985, 91852174, 91867037-91867047
1061PEX170.9924714434060229385292122320-92122322, 92134104, 92134132, 92140312, 92157648-92157670
1062COL1A270.97488417459156103410194027701, 94030913-94030932, 94045727-94045730, 94049545-94049563, 94049907-94049918, 94049929-94049960, 94058701, 94058704-94058715, 94058718-94058719
1063SLC25A1370.996553421959637203195820477, 95951255-95951260
1064TFR270.97630922693267572406100218661, 100218664, 100224481, 100224490-100224494, 100224516-100224518, 100224521, 100228633, 100230653-100230674, 100230729, 100231109, 100238644, 100238650-100238654, 100238704, 100238707-100238719
1065SERPINE170.98593879239041171209100771799-100771802, 100777065-100777077
1066SLC26A570.9923937360179172235103017261-103017275, 103017278, 103033511
1067RELN70.998458128553531610377103191635-103191637, 103191652, 103212693, 103212704-103212705, 103234878, 103244863, 103244875, 103338417, 103629763, 103629800-103629803
1068SLC26A470.98548868971404342343107302092-107302097, 107314735-107314736, 107314747-107314749, 107323941-107323945, 107323949, 107323966-107323982
1069SLC26A370.98954248366013242295107432359-107432362, 107432366-107432385
1070DLD70.9967320261437951530107556137-107556141
1071IFRD170.97861356932153291356112090808-112090831, 112090837, 112102132, 112102137, 112102170, 112102191
1072CFTR70.960162052667121774443117188713-117188753, 117188760-117188800, 117188847-117188877, 117235015-117235026, 117235035-117235040, 117235054-117235057, 117235068-117235077, 117235081-117235112
1073AASS70.9971233369291682781121717949, 121755176, 121755207, 121769453, 121769500-121769501, 121769557, 121769584
1074IMPDH170.8752251800128045835-128045843, 128045850-128045887, 128045901-128045910, 128049496-128049517, 128049810-128049955
1075FLNC70.983736854976771338178128470692-128470712, 128470721-128470724, 128470727, 128470776, 128470854-128470859, 128470872-128470873, 128470876, 128470882-128470889, 128470899-128470906, 128470915-128470918, 128470926-128470952, 128471011-128471016, 128471031, 128477268-128477272, 128477278-128477279, 128477283-128477291, 128477294-128477306, 128477729-128477731, 128482748, 128494187-128494196
1076ATP6V0A470.97899326198969532523138394370-138394373, 138394376-138394377, 138394382-138394391, 138394401, 138394441, 138394452, 138394455-138394461, 138394480-138394506
1077BRAF70.9787049109083492301140434543-140434549, 140494196, 140508758, 140624389-140624394, 140624401, 140624404-140624409, 140624412, 140624417-140624423, 140624426, 140624472-140624473, 140624481-140624496
1078PRSS170.8830645161290387744142458434-142458454, 142459625-142459629, 142459675-142459682, 142459831, 142459839, 142459851-142459875, 142460313, 142460335, 142460366-142460377, 142460409-142460418, 142460744, 142460752
1079CLCN170.98550724637681432967143017813-143017814, 143017827-143017831, 143017836-143017837, 143042688, 143042697, 143042770-143042781, 143043343-143043344, 143043698-143043705, 143047480-143047486, 143047490-143047492
1080CNTNAP270.98723723723724513996145813981-145813988, 145813994-145814014, 146740999-146741020
1081KCNH270.6790229885057511173480150644043, 150644138-150644140, 150644416-150644452, 150644458-150644493, 150644526, 150644551-150644553, 150644562-150644602, 150644694-150644864, 150644873-150644876, 150644885-150644928, 150645543, 150645547-150645549, 150645552, 150645570, 150645591, 150645594, 150648142-150648143, 150648656-150648689, 150648880-150648923, 150655153, 150655179-150655188, 150655207-150655565, 150655580-150655590, 150671799-150672029, 150674926-150675001
1082PRKAG270.95906432748538701710151329155-151329224
1083SHH70.629949604031685141389155595594-155596054, 155596128, 155596134, 155596141-155596147, 155596172-155596173, 155596176-155596186, 155596191-155596216, 155596417, 155599048, 155604805-155604807
1084MNX170.239635157545619171206156798214-156798499, 156799205-156799220, 156799255-156799273, 156799282-156799306, 156802354-156802370, 156802383-156802412, 156802416-156802423, 156802432-156802436, 156802453-156802454, 156802463-156802472, 156802523, 156802527-156802541, 156802544, 156802556-156802922, 156802930-156803044
1085CLN880.9965156794425138611719449, 1719519, 1728551
1086GATA480.64860797592175467132911565822-11565836, 11565839, 11565842, 11565847-11565850, 11565855-11565857, 11565860, 11565874-11565937, 11565950-11565974, 11565997-11566001, 11566016-11566362, 11614519
1087TUSC380.9426934097421260104715397953-15397957, 15397968-15397972, 15397975-15397991, 15398006-15398007, 15398013-15398024, 15398028, 15398035-15398040, 15398064-15398065, 15480662-15480670, 15480674
1088ASAH180.9856902356902417118817915049, 17941490, 17941495-17941509
1089LPL80.9754901960784335142819810849-19810883
1090SFTPC80.99494949494949359422020960, 22020971, 22021517
1091NEFL80.90625153163224813113-24813132, 24813187-24813205, 24813238-24813244, 24813416-24813419, 24813423-24813432, 24813484-24813490, 24813501-24813502, 24813506, 24813512-24813516, 24813620-24813622, 24813647-24813687, 24813690-24813692, 24813697-24813700, 24813918-24813944
1092CHRNA280.995597484276737159027320645, 27320855, 27320858, 27320864-27320867
1093ESCO280.9944629014396510180627633050-27633056, 27660948-27660950
1094FGFR180.998781973203413246338271265, 38287395, 38287400
1095ADAM980.9934959349593516246038854597, 38854610, 38854672, 38959382-38959392, 38959425, 38959428
1096ANK180.96979276431331172569441542084-41542085, 41581110-41581151, 41583428, 41583431, 41753873-41753998
1097THAP180.99065420560748664242693235, 42693238-42693239, 42693247, 42693253-42693254
1098HGSNAT80.93553459119497123190842995640-42995757, 43014096, 43033264-43033266, 43047562
1099RP180.999536393138623647155533647, 55533909, 55533913
1100CHD780.9914387369357377899461693572, 61734451, 61734461-61734466, 61734583-61734616, 61734639-61734649, 61742923, 61749495, 61749498-61749502, 61749514-61749522, 61765787, 61768619, 61777689-61777692, 61777697-61777698
1101TTPA80.774193548387118983763973925, 63976766-63976775, 63976782-63976785, 63998396, 63998408-63998580
1102CYP7B180.9388560157790993152165527688, 65528670, 65711032-65711033, 65711056-65711144
1103EYA180.999437886453061177972211295
1104CA280.956577266922093478386376311-86376344
1105CNGB380.999588477366261243087638211
1106NBN80.9871964679911729226590960056-90960059, 90960073, 90960104-90960120, 90983418-90983421, 90996762, 90996768-90996769
1107DECR180.999007936507941100891033167
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1179LHX390.767576509511992811209139089304-139089307, 139089311, 139089316-139089322, 139089334, 139089339, 139089346-139089352, 139089506, 139089511, 139090538, 139090563, 139090615, 139090618-139090619, 139090622, 139090754-139090905, 139091670, 139091674-139091676, 139091725-139091726, 139094792-139094885
1180INPP5E90.775193798449614351935139324256, 139324259, 139326276-139326280, 139326318-139326319, 139326366, 139326370, 139327011-139327015, 139327692, 139329292-139329295, 139329310, 139333063, 139333069, 139333139-139333175, 139333181-139333183, 139333206, 139333304, 139333310-139333320, 139333329-139333342, 139333346-139333349, 139333391-139333416, 139333433-139333444, 139333455-139333540, 139333631, 139333634-139333635, 139333646, 139333655-139333664, 139333670-139333871
1181NOTCH190.911580594679196787668139390576-139390582, 139390588, 139390591-139390592, 139390733-139390734, 139390830-139390856, 139390924-139390925, 139390961-139390988, 139391023, 139391037, 139391051, 139391124, 139391148, 139391280-139391329, 139391347-139391370, 139391405, 139391473-139391479, 139391507, 139391514, 139391524, 139391529, 139391636, 139391759-139391793, 139391804-139391884, 139391936-139391964, 139391987, 139392003-139392010, 139395121-139395157, 139396206-139396207, 139396862-139396865, 139396883-139396894, 139396907-139396910, 139396916-139396918, 139399194, 139399200, 139399214-139399248, 139399275-139399324, 139400021-139400023, 139400159-139400162, 139400240-139400281, 139402751, 139403435, 139403521-139403522, 139410156-139410160, 139412388, 139417302-139417332, 139417562-139417579, 139417588-139417632, 139440178-139440238
1182AGPAT290.72281959378734232837139571073-139571074, 139571438, 139571444-139571448, 139571451, 139571463, 139571471, 139571474, 139571534-139571544, 139571909-139571915, 139571925-139571968, 139581652-139581809
1183SLC34A390.805555555555563501800140127056, 140127469, 140127490-140127495, 140127672-140127678, 140127711-140127748, 140127777-140127780, 140127793-140127795, 140127802-140127805, 140127852-140127856, 140128133, 140128136-140128142, 140128169, 140128172-140128174, 140128315-140128383, 140128389-140128393, 140128561-140128653, 140128868-140128894, 140128918, 140128934, 140130620, 140130624-140130626, 140130745-140130773, 140130782-140130818, 140130863, 140130867-140130868
1184EHMT190.97510905824994973897140513481-140513501, 140605428-140605477, 140638377, 140671278-140671283, 140728964-140728966, 140729264-140729269, 140729276-140729277, 140729302, 140729328, 140729331-140729334, 140729340, 140729386
1185SHOXX0.80546075085324171879591762-591770, 591814, 595518-595561, 605136, 605142-605145, 605152-605154, 605157, 605160-605164, 605167-605172, 605191-605195, 605201, 605205, 605221-605222, 605235, 605265, 605267-605308, 605328-605371
1186KAL1X0.954478707782679320438522037-8522040, 8699946-8699957, 8699971-8700047
1187GPR143X0.971764705882353612759733618-9733627, 9733657-9733675, 9733690-9733691, 9733699-9733702, 9733727
1188RPS6KA3X0.997750787224475222320284697-20284701
1189SMSX0.9554950045413349110121958943-21958991
1190ARXX0.78093546477205370168925025356-25025358, 25025385-25025388, 25025405-25025409, 25025452-25025456, 25025465-25025470, 25025473, 25031095, 25031204-25031217, 25031244, 25031268-25031275, 25031279, 25031285, 25031301, 25031311-25031312, 25031339, 25031442-25031469, 25031477, 25031480-25031487, 25031490-25031492, 25031501, 25031548-25031815, 25031831-25031832, 25031836-25031840
1191IL1RAPL1X0.999521759923481209129417304
1192NR0B1X0.998584571832982141330326629, 30327164
1193DMDX0.9998191354675321105831165493-31165494
1194RPGRX0.8982364845331352345938145315-38145614, 38145629-38145630, 38145641-38145690
1195BCORX0.9975322703113113526839921552-39921553, 39921570-39921579, 39923664
1196NYXX0.55186721991701648144641332803-41332806, 41332811, 41332834-41332883, 41332899-41333193, 41333211-41333288, 41333294-41333322, 41333328-41333390, 41333398-41333447, 41333458-41333533, 41333649-41333650
1197SYN1X0.87771482530689259211847433527-47433530, 47433595, 47433609-47433611, 47433630-47433650, 47433653-47433664, 47433701-47433707, 47433716-47433721, 47433739, 47433745-47433750, 47433757-47433798, 47433840, 47433883, 47433886, 47433893-47433894, 47433897-47433905, 47433915, 47433921, 47433927-47433932, 47433936-47433968, 47434096-47434123, 47478791-47478800, 47478808-47478816, 47478823-47478824, 47478844-47478848, 47478979-47478985, 47479028-47479031, 47479092-47479127
1198WASX0.9569251159708465150948547087, 48547092, 48547187-48547234, 48547310-48547324
1199SYPX0.986199575371551394249056633-49056645
1200CACNA1FX0.999831479609031593449075177
1201FOXP3X0.996913580246914129649107810-49107813
1202FGD1X0.99584199584212288654496789, 54497111-54497114, 54497118-54497119, 54521596-54521597, 54521845, 54521857-54521858
1203ARX0.94317770539269157276366765118, 66765122-66765224, 66765434, 66766180-66766186, 66766226-66766229, 66766357, 66766363-66766387, 66766393-66766396, 66766407-66766412, 66766434-66766438
1204EFNB1X0.999039385206531104168049656
1205DLG3X0.9861450692746534245469665052-69665055, 69665113, 69665121, 69665125, 69665130-69665136, 69665146-69665163, 69665357-69665358
1206MED12X0.98209366391185117653470338605-70338703, 70361098-70361100, 70361104, 70361117-70361118, 70361121, 70361124-70361134
1207TAF1X0.97518479408659141568270586177-70586261, 70586264-70586270, 70586289-70586337
1208SLC16A2X0.90228013029316180184273641322-73641432, 73641470-73641476, 73641491-73641495, 73641586-73641590, 73641616-73641620, 73641627-73641634, 73641737-73641738, 73641742-73641749, 73641759-73641787
1209ATRXX0.999866292285061747976813037
1210BRWD3X0.9927897947864739540979960298, 79991545-79991547, 79991561-79991564, 80064940-80064970
1211PCDH19X0.9933454325468822330699663458-99663471, 99663563-99663565, 99663576-99663580
1212ACSL4X0.9985955056179832136108911434-108911436
1213XIAPX0.9993306559571611494123025166
1214OCRLX0.99630450849963102706128674421-128674430
1215GPC3X0.99368904188181111743133119425-133119429, 133119458-133119463
1216PHF6X0.99089253187614101098133559347-133559356
1217HPRT1X0.9589041095890427657133594342-133594368
1218SLC9A6X0.98148148148148392106135067698-135067704, 135067709-135067727, 135067814, 135067857-135067859, 135067883-135067887, 135067969, 135067984-135067986
1219ZIC3X0.919515669515671131404136648893-136648913, 136649276-136649282, 136651075-136651076, 136651087-136651169
1220SOX3X0.520507084265476431341139585885-139585999, 139586009-139586015, 139586018, 139586026, 139586039-139586160, 139586163-139586170, 139586181-139586527, 139586636, 139586712-139586717, 139586828-139586829, 139586840-139586847, 139586862-139586864, 139586870-139586873, 139586881-139586885, 139586888, 139586892, 139586906-139586908, 139586926-139586932, 139587043
1221MTM1X0.9994481236203111812149765027
1222FAM58AX0.9605442176870729735152864474-152864477, 152864497-152864521
1223SLC6A8X0.850104821802942861908152954030-152954291, 152959687-152959704, 152959799-152959804
1224ABCD1X0.98704200178731292238152991430, 152991511, 152991516, 152991543-152991546, 153008705-153008711, 153008981-153008987, 153009030, 153009149-153009155
1225AVPR2X0.9937275985663171116153172075-153172081
1226MECP2X0.95657982631931651497153296219-153296221, 153363061-153363122
1227OPN1LWX0.90410958904111051095153409791, 153416296-153416332, 153416343-153416365, 153418520-153418549, 153420173-153420179, 153421909-153421915
1228OPN1MWX0.899543378995431101095153448175, 153453490-153453496, 153455650-153455668, 153457294-153457302, 153458979-153459011, 153459043-153459083
1229OPN1MWX0.9296803652968771095153485293, 153490608-153490614, 153492768-153492786, 153494412-153494420, 153496161-153496201
1230FLNAX0.99647532729104287944153577800, 153577813-153577819, 153577834, 153599278-153599284, 153599562-153599567, 153599584, 153599587-153599591
1231EMDX0.9346405228758250765153608075-153608115, 153608131, 153608135-153608142
1232TAZX0.992395437262366789153640226-153640229, 153640238, 153640242
1233GDI1X0.9933035714285791344153665629-153665630, 153665639-153665645
1234G6PDX0.99755799755841638153760221-153760224
1235IKBKGX0.94398907103825821464153786757-153786771, 153788622-153788635, 153788668-153788675, 153788705-153788749
1236IKBKGX0.99591002044992489153869862-153869863
1237USP9YY0.999739175795512766814898513, 14898521
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4BMP4-R287Hhet unknown0.008Dominant
pathogenic
Low clinical importance,
uncertain
Seen in a single Pennsylvania father/son pain associated with cleft lip & palate or less dramatic microform or orbicularis oris muscle defects in a dominant manner. The variant is extremely rare (around .1% allele frequency) and so the case/control data fails to establish statistical significance.
4BMP4-V152Ahet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
2.5SP110-M579Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A206Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-G126Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5POLG-Q1236Hhet unknown0.031Complex/Other
pathogenic
Low clinical importance,
uncertain
Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.
2TGIF1-S18Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TGIF1-P83Shifthomozygous0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
2ELAC2-A541Thet unknown0.024Unknown
pathogenic
Low clinical importance,
uncertain
This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".
2ELAC2-SR352RKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ELAC2-S217Lhomozygous0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
2FANCB-G335Ehomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
2PIGR-A580Vhomozygous0.318Complex/Other
pathogenic
Low clinical importance,
likely
In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.
2PIGR-T555Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
2ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CPT2-S113Lhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
well-established
This is the most common variant associated with late-onset carnitine palmitoyltransferase deficiency, which is classically viewed as recessive. Many patients are heterozygous for this, but are presumably compound heterozygous.
1.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-K23Ehomozygous0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.375SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SLC6A5-T425Mhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant is associated with hyperekplexia (a disorder of excessive startle reflect and stiffness), seen homozygously in a single family in a screen of 79 unrelated cases and not seen in 400 control chromosomes. This is not enough data to establish statistical significance, but the authors did find functional data supporting this variant as having an severe effect on the gene product.
1.25OCA2-A481Thet unknown0.023Recessive
pathogenic
Low clinical importance,
uncertain
This variant is associated with lower melanin production and may result in less pigmentation in skin or eyes. The variant is suggested to play a role in oculocutaneous albinism when combined with more severe variants, but these findings lack statistical significance.
1.25OCA2-R305Whet unknown0.094Unknown
benign
Low clinical importance,
likely
This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).
1.25SPG11-K1013Ehet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).
1.25SPG11-Y886Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SPG11-F463Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-P2947Thomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-G1140Dhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-S558Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1MC4R-V103Ihet unknown0.024Unknown
protective
Low clinical importance,
uncertain
This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals.
1CFB-V488AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYBA-Y72Hhomozygous0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP4F2-V433Mhomozygous0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.309 (possibly damaging)
1CYP4F2-W12Ghomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP6AP2-P90Ahomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-P95Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1UMOD-V458Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CDKN1A-S31Rhet unknown0.271Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAAH-P129Thomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1OTOF-R822Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
1OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZCCHC16-L27Phomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZCCHC16-D162Yhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1ZCCHC16-N204Dhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1MLXIPL-A358Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1HLA-L-H17RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-A142VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-W144*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HLA-L-C172YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ITGB4-R515Hhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
1ITGB4-GT970VAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A32175Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V25148Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N14094Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V7505Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V6092Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I1544Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BBS12-R386Qhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
1BBS12-D467Nhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1COL18A1-D1675NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-H146Rhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-R787Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1ADAMTSL3-L869Fhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
1ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1TOR1A-D216Hhet unknown0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1G6PD-N444Hhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SLC22A1-R61Chet unknown0.024Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-D1111Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CILP-G1166Shet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-V678Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1DYX1C1-E417*het unknown0.354Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-V417Ihomozygous0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1CPN2-Q509RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-W1837Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1748Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SPTLC1-R151Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TIRAP-S180Lhet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KIAA1210-R405Hhomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1KIAA1210-G103Vhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTTP-I128Thomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MTTP-H297Qhomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MTTP-G661Shomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.625MTRR-I49Mhet unknown0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625MTRR-K377Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MTRR-H622Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HGF-E304Khet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5GGCX-P636Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5GGCX-R325Qhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5IL1RL2-P538Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMB4-G1465Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5LAMB4-T1350Nhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5LAMB4-S983Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5LAMB4-M44Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCTN1-M1186Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OXER1-T128Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5AKAP9-M463Ihet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMB1-Q1022Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMB1-G860Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5LAMB1-P379Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.934 (probably damaging)
0.5CYP3A43-M275Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DNAH6-R136Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DNAH6-V141Mhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-V2550Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DNAH6-G2833Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5BLVRA-A3Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BLVRA-Y72Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5ESCO2-A80Vhomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5METTL2B-V68Ihet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5METTL2B-V266Ihomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-R302Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNAI1-K184Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.035 (benign), Testable gene in GeneTests with associated GeneReview
0.5RAB3GAP2-S1092Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUSD1-G285Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NOL6-V686Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOL6-S587Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TAF1L-M371Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-A1532Vhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-A1601Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5OBSCN-D2106Ehet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-R2529Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5OBSCN-R2812Whet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5OBSCN-R2823Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-C4450Rhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4662Chet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.838 (possibly damaging)
0.5OBSCN-D4962Ghet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-Q5891Ehet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5OBSCN-P6271Shet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5OBSCN-A7172Vhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5OBSCN-R7724Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5AGRN-E728Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5LINGO2-T59Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-S2612Ghomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ANK3-S4333*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ANK3-K3123Rhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1801Qhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR13A1-Y269Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSC1-T360Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.13 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PITRM1-Q1037Rhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I952Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.476 (possibly damaging)
0.5PITRM1-F618Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-I328Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MASTL-P620Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.5MASTL-V873Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5LYST-E2161Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.215 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BOP1-E80Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ITSN2-A1534Thet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ITSN2-R1337Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ITSN2-V291Ihet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRFIP1-Q275Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCM1-N455Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5TUSC3-I65Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC26-L104Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NOS3-A422Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAM32-R656Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5SDR16C6-T318Phet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-S221Thet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDR16C6-L63*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PKHD1L1-M265Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TNFRSF11B-V281Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNFRSF11B-N3Khet unknown0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAPK15-R260Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MAPK15-T381Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SHARPIN-P294Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5VPS13B-R974Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A7-I215Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CHD7-M396Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview
0.5GGH-T151Ihet unknown0.089Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging)
0.5KCNB2-H688Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5EXO1-F483Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EXO1-R723Chomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.512 (possibly damaging)
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT5-P892Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PPEF2-R608Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PPEF2-M481Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MMRN1-T58Ahet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MMRN1-R1227Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PAPSS1-R111*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5N4BP2-D611Nhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-E861Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZCCHC4-D72Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ZCCHC4-L396Hhet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TLR10-R799Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5TLR10-I369Lhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR10-M326Thet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.978 (probably damaging)
0.5TLR10-V298Ihet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5TLR10-N241Hhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5TLR10-L167Phet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5TLR10-A163Shet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TLR1-S602Ihomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-K441Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERAP2-L669Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5F2R-R305Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5MGST2-Y93Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEATR7B2-L1179Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-V496Ihomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R330Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-P1251Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5STX19-R142Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ROBO1-P1188Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KBTBD8-F179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KBTBD8-C420Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CCR5-S185Shifthet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AMT-E211Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MST1R-S1195Ghomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MST1R-R309Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-P2218Lhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T492Shet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5COL6A3-D491Hhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-T1720Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-P415Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DOK7-G461Dhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCDC50-L121Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-R990Ghet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINI1-A280Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LNPEP-V359Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSTA4-T185Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HCRTR2-I308Vhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HCRTR2-F346Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TRERF1-D1187Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRERF1-P272Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.402 (possibly damaging)
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q256Rhomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shomozygous0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihomozygous0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shomozygous0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OIT3-C105Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LMBRD1-D469Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM135A-S209Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FAM135A-D1242Ghet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5RSPH4A-T149Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-N627Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K117Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-R308Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5AKAP12-S887Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-L8741Mhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKD1-R1299Qhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-D739Vhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKD1-S504Fhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.957 (probably damaging)
0.5AKD1-S493Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5CD109-N797Shet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD109-G828Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-V845Ihet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CD109-T1241Mhet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5UBE2CBP-S381Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MICAL1-R807Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5MICAL1-A758Ehet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICAL1-A12Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-M174Vhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-P330Lhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Q3953Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAT2-M3631Ihomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GEMIN5-R682Qhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5KIF4B-R580Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPINK5-R268Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDHB11-Q4Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB11-P449Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PCDHB11-D528Ehet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRP2-R123Khomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NRP2-R334Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF20A-P839Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH7-L3319Phomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-R545Chomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5DNAH7-K159Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RARS-V3Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RARS-V376Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5JARID2-P490Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ALDH5A1-H180Yhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFE2L2-L309Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5HLA-H-D19Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E47Khet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HUS1B-D268Yhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HUS1B-H130Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FLT4-P641Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.742 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATG13-M1Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PRSS21-P186Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5GJB4-T181Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V816Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO1-T221Mhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ESCO1-E181Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5ABCA9-R1427*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABCA9-K1306Thet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-R353Hhet unknown0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP1-A18Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5ZNF643-C13Yhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF643-P372Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC28B-R25Whet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LAMA3-P1208Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FCN3-L117Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-R404Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DSC3-R27Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXHD1-A2036Vhet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-C1344Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCC-F23Lhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCC-S1178Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5AOC2-W47*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DEM1-L151Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V127Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMED6-L159Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5FUK-S810Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-R212Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEFV-G304Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5NUDT13-R243Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH11-V1296Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5FANCA-T1328Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-S1088Fhet unknown0.036Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic.
0.5FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-P643Ahet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-A412Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MED24-T300Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.944 (probably damaging)
0.5KRTAP4-8-A168ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRTAP4-8-C30*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRTAP4-8-P27Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT13-R355Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-T298Ahomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A187Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT13-A146Ghet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUTYH-S488Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUTYH-Q311Hhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5RAB11FIP4-E501Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5CCDC55-K86Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH13-R1294Qhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH13-M1071Vhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MYH13-G701Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5NEK8-E633Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.536 (possibly damaging), Testable gene in GeneTests
0.5DNAH9-Q445Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-M604Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH9-N2195Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.174 (benign)
0.5DNAH9-R2805Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAN2B1-R337Qhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-L202Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-D205Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5LSS-L642Vhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LSS-R614Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-A1194Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-S2191Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-S2326Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.078 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5CECR5-A105Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CRYBB3-H113Dhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRYBB3-E183*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A1-E956Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BACH1-I498Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CBR3-C4Yhomozygous0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5DSCR4-P40Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5SLC19A1-H27Rhomozygous0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5PLAC4-R44Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLAC4-R42Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LIMK2-R213Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEPDC5-F685Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DEPDC5-M1111Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIOBP-S217Nhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5PEX10-T274Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MLC1-C171Fhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5FHAD1-R182Hhomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-G651Rhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-M1262Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5FHAD1-I1325Vhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-P493Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-G1471Rhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-S1744Ghomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCAM-S275Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.831 (possibly damaging), Testable gene in GeneTests
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF284-Y33Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF284-S124Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF284-E577Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF574-R552Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5PRODH2-P91Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5NCCRP1-N115Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5SAMD4B-T508Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5MYH14-M161Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARFGEF2-R1092Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5FAM65C-C566Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5CRNKL1-Q111Hhet unknown0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-R52Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5CRNKL1-F51Lhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-G35Rhet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEL1L2-D426Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FPR1-E346Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIB3-R153Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SUCLA2-D367Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.338 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thomozygous0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DIP2B-R484Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5QSOX1-H399Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKP2-T338Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKP2-D26Nhet unknown0.009Unknown
benign
Low clinical importance,
likely
Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age).
0.5GYS2-T546Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-M363Vhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-T1056Phet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-F2561Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLEKHG6-R607Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5KRT6B-I365Vhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDS-V61Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA3-R1393Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5FMO2-D36Ghet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FMO2-S195Lhomozygous0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IFT81-D134Ghet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ITGA7-I769Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HELB-L191Phomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HELB-D506Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5RASSF9-E424Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRPV4-S134Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.059 (benign), Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HINFP-G450Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5HINFP-A493Vhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK1-S1756Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DOCK1-A1857Thomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC8-V1572Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HABP2-R103Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMRN2-Q479*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MMRN2-G49Shet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF14-P1633Ahet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.773 (possibly damaging)
0.5KIF14-M458Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CRTAC1-E658Khomozygous0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRTAC1-R572Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS1-P491Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS1-V4Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.827 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CFHR5-G145Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5BDNF-V148Mhet unknown0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DYNC2H1-Q304Lhet unknown0.005Unknown
benign
Low clinical importance,
uncertain
Presumed benign.
0.5DYNC2H1-N1576Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-D1853Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-H157Yhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-L159Vhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP28-M573Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MAML2-H452Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FZD4-P168Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.186 (benign), 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
0.5XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AHNAK-I5483Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.729 (possibly damaging)
0.5AHNAK-S3724Phet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK-E2176Dhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AHNAK-D1785Ghet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-K1763Rhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-T1576Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-K1481Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FERMT3-G44Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5GJA3-R133Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5TECPR2-V320Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-I683Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-E867Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FBN1-I1114Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-L51Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B4-T884Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5PTPN22-W620Rhet unknown0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AMPD1-S524Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.825 (possibly damaging), Testable gene in GeneTests
0.5FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2836Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2398Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FAM189A1-V431Ahet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FAM189A1-R393Hhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM189A1-H375Rhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM189A1-G314Dhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM189A1-G228Shet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5SERPINE3-R379Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MCL1-M231Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5PYGO1-R405Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5TPSG1-T239Ihet unknown0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TPSG1-RR193HWhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TPSG1-S138Fhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5TPSD1-E43Shifthet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5TPSD1-L70Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PKD1-R739Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NM_001040615-R680Shet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5NM_001040615-E641Dhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NM_001040615-S472Thet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.45 (possibly damaging)
0.5NM_001040615-V406Mhomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001040615-S140Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5NM_001040615-I29Vhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G4D-R807Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5PLA2G4D-R783Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PLA2G4D-Y627Chet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-R601Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4D-R573Whet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-P10Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACIN1-S647SRShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S467Phet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-N20Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYT16-V10Ahomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYT16-R131Lhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYT16-H145Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TEP1-D2259Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FARP1-H644Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC10A2-F296Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5SLC10A2-S171Ahomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A2-V159Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDHD1-P638Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HEATR4-R712Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHH1-V1001Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MLH3-P844Lhomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STX6-L127Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STX6-A126Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SELP-V640Lhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SELP-D603Nhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CACNA1S-R1658Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-H1991Yhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-P293Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRRC2C-A906Thet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRRC2C-N1516Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-S890Ihet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.66 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CFH-V1007Lhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.818Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LAMB3-M852Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B1-L643Fhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.25RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNF224-M118Vhet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HYLS1-C31Rhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDK5RAP2-E289Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS5-L417Mhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF43-L418Mhet unknown0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-G417Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF43-R343Hhomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.25CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KANK1-E432Qhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25KANK1-Y845Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NSD1-V614Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSD1-S726Phet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-I148Mhet unknown0.268Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.25FBN2-M2311Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-W511Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C3orf14-I61Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C3orf14-R128*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CRIPAK-C27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CRIPAK-A44Thet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CRIPAK-H95Rhet unknown0.763Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25CRIPAK-M286Thet unknown0.571Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CRIPAK-S288Ghet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM36-D678Nhomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM36-A378Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25C7orf29-E202Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C7orf29-W223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-H1459Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A3-A435Ehet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-S167Nhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AHR-R554Khet unknown0.315Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BBS9-A455Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0MBL2-R52Chet unknown0.035Recessive
pathogenic
Low clinical importance,
likely
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).
0PHKB-M185Ihet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.
0CC2D2A-G776Rhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive mutations in this gene cause Joubert Syndrome and Meckel Syndrome.
0HFE-H63Dhet unknown0.086Recessive
pathogenic
Low clinical importance,
uncertain
There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0TREM2-R47Hhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50).
0ACAD8-S171Chet unknown0.023Recessive
pathogenic
Low clinical importance,
uncertain
This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.
0CYP1B1-R368Hhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,745,077,456 bases (96.0% of callable positions, 89.1% of total positions)

Coding region coverage: 31,701,435 bases (95.2% of all genes, 96.4% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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