hu3A8D13 - GET-Evidence variant report

Variant report for hu3A8D13

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CFTR-G576AHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00474684Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.1
2SYNE1-E6786ShiftModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position -- the few reports of causal downstream variants lack statistical significance. This protein is very large, it's possible that truncating variants this far along in the product do not have as severe an effect.1
3MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5CETP-A390PLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0388548This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).1
6APOA5-S19WLowLikelyLikely pathogenic

Unknown, Homozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8WFS1-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
9MPO-Y173CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000557724This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes.1
10SP110-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
11TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
12H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
13ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
14BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
15DYX1C1-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
16rs1544410LowUncertainUncertain pharmacogenetic

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

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

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
19CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
20NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
21MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
22ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
23CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
24DMD-R2155WLowLikelyLikely benign

Unknown, Homozygous
0.0269529Probably benign.1
25FLT4-N149DLowLikelyLikely benign

Unknown, Heterozygous
0.0725056Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.1
26PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
27KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
28RPGRIP1-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
29GAA-D91NLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0237033This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. 1
30GJB3-R32WLowUncertainUncertain benign

Unknown, Heterozygous
0.022309Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.1
31PKHD1-G2285ELowUncertainUncertain benign

Unknown, Heterozygous
0.00223131Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a severe pathogenic effect.1
32ENPP1-R774CLowUncertainUncertain benign

Unknown, Heterozygous
0.0258412Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.1
33COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
34POLG2-G416ALowUncertainUncertain benign

Unknown, Heterozygous
0.0119025Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type.1
35PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
36DSPP-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
37BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
38APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
39MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
40PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
41TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
42SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
43PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
44USH2A-V230MLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0157092This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31689318 / 33282720 = 95.21%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.8082437275985711776138955553-955753, 970682, 970686-970687, 976045, 976090-976115, 976191-976197, 976207-976260, 976553-976745, 976776-976777, 976858-976894, 976909-976919, 976962-976968, 977081, 978700-978708, 978741-978749, 979024-979033, 979046, 979362, 979370-979396, 979545-979549, 981784-981790, 981802-981842, 981888-981908, 981917-982002, 982028-982047, 982279-982282, 982295-982307, 982319-982323, 983208-983210, 983489, 983493, 983497-983498, 983564-983581, 983596-983745, 984632, 984636-984638, 984696-984699, 984975, 985172-985175, 985347, 985613-985624, 986192-986206, 986655-986666, 986672, 986677-986683, 986833-986854, 986878-986891, 986897-986941, 986967-986972, 986983, 986991, 986998, 987018-987024, 990227-990268
2GABRD10.90654893303912713591950863-1950930, 1957037, 1957040, 1959634-1959652, 1959664-1959667, 1960580-1960581, 1961003-1961010, 1961465, 1961469, 1961484-1961505
3PEX1010.841997961264021559812337267, 2337270, 2337931-2337934, 2337943-2337946, 2337977-2337983, 2339979, 2339985-2339987, 2339996-2340003, 2340035-2340042, 2340182-2340213, 2340275-2340279, 2343844-2343867, 2343885-2343941
4NPHP410.9733707077785611442815925202-5925224, 5934579, 5934711-5934716, 5934934-5934939, 5935047-5935048, 5935053, 5935058-5935069, 5935076-5935082, 5935115-5935156, 5964759-5964761, 6021882-6021886, 6021891-6021896
5ESPN10.58830409356725105625656485016-6485304, 6488301-6488336, 6488378-6488392, 6500360-6500394, 6500425-6500465, 6500686-6500868, 6501019-6501040, 6505769-6505772, 6505847-6505920, 6505931-6505937, 6508701-6508723, 6508739-6508770, 6508788-6508794, 6508818-6509063, 6509077-6509083, 6511939, 6512105-6512133, 6520062-6520065, 6520135
6PLEKHG510.8896205707118235231896528237-6528248, 6528311, 6529445-6529446, 6530693-6530698, 6530795-6530824, 6530832-6530854, 6530874-6530876, 6530893, 6530937-6530944, 6531104-6531120, 6531648-6531650, 6531687-6531697, 6534109-6534173, 6534183-6534224, 6534511-6534624, 6534638-6534647, 6557380-6557383
7PEX1410.9409171075837767113410659335-10659345, 10684415, 10684429-10684473, 10689734, 10689745-10689750, 10690037-10690039
8TARDBP10.9614457831325348124511082322-11082369
9MASP210.9917515769044217206111087684-11087686, 11103546-11103550, 11105495-11105503
10MTHFR10.9842719431760531197111853985-11854012, 11861342-11861343, 11861432
11PLOD110.9807692307692342218411994837-11994838, 11994847-11994868, 11994889, 12018655-12018659, 12023605-12023606, 12024754-12024755, 12024768-12024769, 12034794, 12034798-12034802
12MFN210.9903254177660522227412067117-12067128, 12067136, 12067154-12067156, 12067210-12067212, 12069690-12069692
13CLCNKA10.93168604651163141206416351346-16351376, 16353071-16353096, 16353245-16353251, 16353846-16353852, 16355302-16355307, 16355314-16355324, 16357038-16357044, 16358704, 16358719-16358763
14CLCNKB10.9786821705426444206416373033-16373035, 16374411-16374425, 16374486-16374494, 16374513-16374517, 16378809-16378812, 16382193-16382200
15ATP13A210.97008185153824106354317312716-17312723, 17312731, 17313001, 17313005, 17313353-17313354, 17313376-17313379, 17313565-17313581, 17313598-17313657, 17313679-17313680, 17313683, 17314729, 17314856, 17318291-17318292, 17322614-17322616, 17326615-17326616
16ALDH4A110.9929078014184412169219201882, 19203971-19203976, 19204064-19204066, 19204098, 19211969
17PINK110.77835051546392387174620960042-20960428
18ALPL10.99682539682545157521903938-21903942
19HSPG210.984365513054042061317622155904, 22155979, 22156551-22156552, 22157523-22157525, 22159099, 22165434-22165436, 22165450-22165460, 22165464, 22165894-22165897, 22165901-22165911, 22165934, 22167642-22167643, 22167650-22167653, 22167752-22167757, 22170668, 22175506-22175507, 22181218-22181219, 22181415-22181449, 22181472-22181476, 22182332-22182333, 22190680-22190681, 22198835-22198841, 22199136, 22199141-22199144, 22199523-22199529, 22206645-22206652, 22206903, 22207255-22207262, 22213738-22213741, 22213913-22213915, 22263648-22263710
20WNT410.90340909090909102105622446598, 22446716, 22446719, 22446742-22446747, 22446852, 22446855, 22446933-22446942, 22446956, 22447992-22447993, 22447997, 22469339-22469415
21RPL1110.99813780260708153724019113
22GALE10.9799426934097421104724122643-24122661, 24122751, 24123242
23HMGCL10.99386503067485697824134719-24134724
24FUCA110.9842969307637422140124189724-24189726, 24194503-24194509, 24194745-24194755, 24194762
25LDLRAP110.8727076591154311892725870190-25870277, 25890158-25890169, 25890192-25890199, 25893339-25893342, 25893478-25893483
26SEPN110.88968824940048184166826126722-26126904, 26139240
27HPCA10.862542955326468058233359373-33359412, 33359419-33359458
28GJB410.99625468164794380135227530-35227532
29COL9A210.9521739130434899207040768376-40768394, 40769308, 40769311, 40769333, 40777355-40777387, 40781305-40781316, 40782838-40782869
30KCNQ410.84961685823755314208841249766-41249932, 41249975-41249994, 41249999-41250003, 41284177-41284195, 41284253-41284317, 41296799-41296813, 41296821-41296828, 41300727, 41303999-41304002, 41304103-41304104, 41304160-41304167
31CLDN1910.967407407407412267543201570-43201577, 43201662-43201668, 43204223-43204229
32LEPRE110.89190411578471239221143232249-43232298, 43232330-43232350, 43232420-43232458, 43232466-43232530, 43232542-43232564, 43232595-43232602, 43232610-43232642
33SLC2A110.9830966869506425147943395280-43395283, 43396376-43396382, 43396402, 43424310-43424322
34MPL10.9627882599580771190843803883-43803889, 43806158-43806169, 43814958-43815008, 43815022
35MUTYH10.9802421924792931156945796912-45796914, 45797119, 45797138, 45797207-45797215, 45797220-45797221, 45797969-45797975, 45798071, 45798304-45798310
36MMACHC10.99528857479388484945974512-45974513, 45974679, 45974743
37POMGNT110.998991427130612198346660261, 46662492
38STIL10.999741401603311386747765815
39ORC110.999613302397531258652847384
40CPT210.9914011127971717197753662630, 53662633, 53662681-53662685, 53662692-53662694, 53662699-53662700, 53662719, 53662757, 53676858, 53678977, 53679099
41DHCR2410.85364281108962227155155341696-55341699, 55352562-55352741, 55352750-55352792
42BSND10.99896157840083196355473985
43PCSK910.91822991822992170207955505535-55505589, 55509598-55509605, 55521675-55521732, 55524244-55524268, 55527136-55527150, 55529160, 55529184, 55529210-55529216
44LEPR10.999714122355631349866070895
45ACADM10.999217527386541127876228447
46GLMN10.999439775910361178592733491
47ABCA410.9907651715039663682294461699, 94467425-94467435, 94497392-94497427, 94502731-94502737, 94508932-94508936, 94508945, 94508948, 94508958
48COL11A110.981674912955841005457103363683, 103363686, 103363689, 103364222-103364243, 103364282-103364298, 103364534, 103364549-103364550, 103380267, 103380296-103380305, 103380310-103380311, 103387107, 103400015-103400021, 103471445-103471446, 103471836-103471851, 103471859-103471871, 103496731-103496732, 103496742
49NGF10.998622589531681726115828761
50HMGCS210.9901768172888151527120301758-120301772
51NOTCH210.986245954692561027416120539684-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120572609-120572610, 120611957-120611967, 120612001-120612010
52FLG10.9439520761529668312186152276178-152276207, 152276268, 152276307-152276323, 152276345-152276389, 152276459, 152276580-152276601, 152276613-152276649, 152276668-152276702, 152276758-152276775, 152276823, 152276868-152276910, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277084-152277085, 152277090, 152277106, 152277165-152277171, 152277368-152277399, 152277434, 152277567-152277573, 152277714-152277720, 152277884, 152278044-152278053, 152278238-152278247, 152278342, 152278406, 152278434, 152278552-152278558, 152278686-152278692, 152278811-152278817, 152279016-152279022, 152279360, 152279726-152279746, 152279778-152279784, 152280081-152280090, 152280167-152280188, 152280262-152280268, 152280468-152280474, 152280556-152280576, 152280646-152280652, 152280733-152280762, 152280782, 152280788, 152280861-152280867, 152281039, 152281225-152281231, 152281301-152281307, 152281635, 152281767-152281804, 152281848-152281849, 152281935-152281951, 152282101-152282113, 152282294-152282305, 152283101-152283105, 152283233-152283239, 152283272, 152284152, 152284209-152284210, 152284374-152284380, 152284851-152284888, 152285134-152285140, 152285188, 152285806-152285812, 152286180
53TPM310.99883449883451858154148645
54CHRNB210.9662027833002511509154540530-154540559, 154544120, 154544124, 154544231-154544233, 154544246-154544249, 154544264-154544270, 154544377, 154544381-154544383, 154544538
55PKLR10.99188405797101141725155263046-155263047, 155264414-155264419, 155269981, 155269989-155269992, 155269996
56LMNA10.998236331569661567156105715
57LMNA10.99398496240602121995156084735-156084745, 156105715
58SEMA4A10.96981627296588692286156124444-156124454, 156131137, 156131206-156131213, 156131223-156131237, 156131259, 156146288-156146292, 156146444-156146445, 156146518-156146543
59NTRK110.927227101631121742391156830727-156830821, 156830831-156830843, 156830848-156830870, 156837934, 156843439-156843456, 156843461-156843462, 156843584-156843601, 156843625, 156843635-156843637
60ATP1A210.99608227228208123063160104947-160104951, 160104962-160104964, 160105324-160105327
61PPOX10.9972105997210641434161139480-161139481, 161139504-161139505
62NDUFS210.9956896551724161392161172213-161172218
63MPZ10.9755469755469819777161275745, 161275906-161275915, 161276137, 161276142-161276143, 161276147, 161276150, 161279693-161279695
64DDR210.9972741433021872568162722971-162722977
65TBX1910.9962880475129951347168281987-168281991
66SLC19A210.98929049531459161494169454851, 169454884-169454898
67FMO310.9943714821763691599171077348-171077356
68MYOC10.97425742574257391515171621170-171621183, 171621407, 171621420, 171621470-171621472, 171621477-171621479, 171621485-171621490, 171621496, 171621505-171621509, 171621591-171621594, 171621689
69FASLG10.9574468085106436846172628401-172628435, 172628683
70NPHS210.872395833333331471152179520529-179520536, 179521761, 179544822-179544826, 179544862-179544967, 179544973-179544999
71RNASEL10.98337825696316372226182554948-182554950, 182555109-182555119, 182555169-182555176, 182555185-182555191, 182555215-182555219, 182555280-182555282
72LAMC210.99609156895589143582183201447-183201460
73NCF210.9993674889310611581183532615
74HMCN110.997811686775493716908185891532-185891537, 185891576-185891579, 185897776-185897779, 186037117-186037118, 186062621-186062630, 186062640-186062647, 186157044-186157046
75CDC7310.996867167919851596193111040-193111044
76CFH10.997835497835583696196682916, 196716389-196716395
77CFHR110.9768378650553923993196796096-196796116, 196797244, 196799643
78CFHR510.9994152046783611710196967323
79ASPM10.997316465401572810434197069785, 197073347, 197073724-197073728, 197086955-197086974, 197094081
80CRB110.9995261786306624221197411413-197411414
81CACNA1S10.99626467449306215622201038651-201038652, 201038656, 201038659, 201081316-201081332
82CHIT110.9978586723768731401203191451-203191453
83CD4610.9991666666666711200207930402
84LAMB310.99289570900824253519209795956, 209795963, 209797006-209797007, 209800769-209800773, 209800783-209800788, 209800890, 209800894-209800902
85USH2A10.994170030110839115609215848180-215848181, 215916534-215916545, 215916593-215916596, 216061802-216061807, 216061844-216061847, 216061855-216061856, 216061861-216061862, 216138743-216138765, 216138776-216138778, 216251496-216251499, 216496816, 216496826-216496829, 216496834, 216496910-216496927, 216595461-216595465
86PSEN210.97921306607275281347227069674-227069701
87ADCK310.98353909465021321944227152837-227152840, 227152877-227152878, 227152899-227152900, 227152906, 227152912, 227152916-227152917, 227152920-227152922, 227153427-227153431, 227171800-227171805, 227171906-227171910, 227172249
88GJC210.1318181818181811461320228345526-228345539, 228345556-228346562, 228346573-228346585, 228346597-228346645, 228346653-228346688, 228346701-228346724, 228346752, 228346755, 228346759
89ACTA110.797178130511462301134229567496, 229567642-229567649, 229567767-229567768, 229567793-229567827, 229567834-229567932, 229568042-229568050, 229568065-229568101, 229568111-229568138, 229568148-229568149, 229568153-229568156, 229568173, 229568453-229568456
90AGT10.96502057613169511458230838946-230838947, 230845769-230845798, 230845912-230845924, 230846048-230846050, 230846564-230846566
91LYST10.995704015430484911406235866159-235866162, 235907456-235907457, 235922367, 235933521-235933522, 235969193-235969211, 235969325, 235972391-235972394, 235972432-235972441, 235973121, 235973215-235973219
92ACTN210.942271880819371552685236849974-236850099, 236902812, 236908067, 236914812-236914827, 236917290-236917300
93MTR10.98894154818325423798237054564-237054581, 237058731-237058736, 237058743-237058751, 237060344-237060349, 237060942-237060944
94RYR210.9922839506172811514904237205835-237205838, 237205853-237205869, 237656293-237656311, 237656317, 237729890-237729935, 237791156-237791162, 237791251, 237791255, 237796908, 237821299, 237863699, 237872312-237872321, 237948014-237948018, 237961466
95FH10.99151989562948131533241672048-241672054, 241682892, 241682965-241682969
96NLRP310.9990356798457133111247587788-247587789, 247588418
97NET1100.99609156895589717915454683-5454689
98GATA3100.986516853932581813358097731, 8097734-8097745, 8100735-8100739
99OPTN100.999423298731261173413160933
100PHYH100.9419862340216359101713341970-13342007, 13342015-13342033, 13342041-13342042
101CUBN100.9957689477557461087216960779, 16982093, 17032405, 17032408, 17085842-17085864, 17085922-17085925, 17085932-17085935, 17146552-17146561, 17147528
102PTF1A100.2836879432624170798723481460-23482158, 23482180-23482187
103MYO3A100.9942279942279928485126241048, 26241139-26241151, 26359250-26359263
104PDSS1100.9150641025641106124826986664-26986769
105MASTL100.9939324990519516263727458906, 27459250-27459264
106RET100.96173393124066128334543572707-43572779, 43598071-43598076, 43600421, 43600461, 43600518-43600519, 43600565-43600568, 43600578-43600583, 43600590-43600616, 43606744, 43606752-43606755, 43606909, 43610128, 43613847
107ERCC6100.9837126282909473448250679021-50679033, 50691451-50691454, 50738819-50738832, 50740775-50740816
108CHAT100.88473520249221259224750822236-50822254, 50822260-50822495, 50833656-50833659
109PCDH15100.998641535065388588955587268-55587269, 55591247, 55626431-55626435
110EGR2100.970649895178242143164573109, 64573112, 64573353-64573382, 64573472-64573480, 64573575
111KIAA1279100.99892818863882186670748772-70748773
112NODAL100.9712643678160930104472201231-72201248, 72201345, 72201352-72201362
113PRF1100.93225419664269113166872358230, 72358237, 72358241-72358254, 72358273-72358280, 72358339-72358352, 72358431-72358441, 72358458-72358503, 72358509-72358519, 72358652-72358658
114PCBD1100.99047619047619331572648288-72648290
115SLC29A3100.999299719887961142873079067
116CDH23100.9942322991249581005673375321-73375324, 73375329-73375337, 73490243, 73550117, 73550124-73550150, 73563025, 73565972-73565977, 73565986-73565989, 73567441-73567444, 73574921
117PSAP100.999365079365081157573579507
118VCL100.94625550660793183340575757966-75757994, 75758039-75758083, 75758096-75758132, 75854056, 75854059, 75854074-75854115, 75864938-75864956, 75867066-75867069, 75873963-75873967
119RGR100.988738738738741088886017670-86017679
120LDB3100.8974358974359224218488466313, 88466321-88466322, 88476087-88476092, 88476179-88476206, 88476246, 88476253-88476256, 88476270-88476271, 88476288-88476327, 88476343-88476432, 88476445-88476494
121GLUD1100.76624925462135392167788836362-88836368, 88854082-88854289, 88854330-88854409, 88854430-88854526
122LIPA100.994166666666677120091007357-91007363
123PLCE1100.999855261253441690996025565
124ZFYVE27100.992718446601949123699504560-99504566, 99512911-99512912
125HPS1100.97625830959164502106100177341, 100177345-100177353, 100177371-100177388, 100177406-100177426, 100185613
126COX15100.98783454987835151233101476124-101476126, 101476129, 101491728-101491736, 101491751-101491752
127ABCC2100.999784389823214638101610366
128PAX2100.98768283294842161299102587333-102587348
129FBXW4100.92493946731235931239103371105, 103371117-103371119, 103371131-103371152, 103371470-103371471, 103454149-103454175, 103454192-103454198, 103454207-103454236, 103454319
130HPS6100.699742268041246992328103825232-103825586, 103825609-103825634, 103825651-103825838, 103825847-103825895, 103825924-103825925, 103825929-103825934, 103826015-103826018, 103826024-103826030, 103826172-103826180, 103826239-103826257, 103826279, 103826305-103826309, 103826392, 103826395, 103826399-103826400, 103826404, 103826419, 103826702-103826705, 103826779-103826788, 103826793, 103826997-103827003
131SUFU100.93539518900344941455104263910-104263934, 104263941-104263951, 104263970-104264013, 104264073-104264076, 104352404-104352412, 104353442
132CYP17A1100.9986902423051721527104592297-104592298
133COL17A1100.99399198931909274494105816810-105816815, 105816849-105816869
134EMX2100.78656126482213162759119302788-119302814, 119302821-119302874, 119302888-119302894, 119302926-119302977, 119302984-119303004, 119303100
135BAG3100.864583333333332341728121411188-121411367, 121429603-121429604, 121429678, 121431929-121431964, 121436316, 121436549, 121436626-121436638
136HTRA1100.714483714483714121443124221169-124221507, 124221562-124221607, 124221617-124221640, 124271566-124271568
137ACADSB100.9961508852963851299124768578-124768582
138TALDO1110.884615384615381171014747482-747504, 747512-747578, 763344-763352, 763366-763373, 763388-763394, 763402-763404
139SLC25A22110.85288065843621143972792318-792324, 792407, 792609-792697, 792887-792888, 792891, 792936-792948, 794776-794805
140PNPLA2110.851485148514852251515819719-819905, 822501, 824025-824028, 824067-824068, 824378-824379, 824382, 824427, 824431, 824530, 824653, 824658-824659, 824662-824663, 824728-824739, 824853-824860
141CTSD110.9168684422921710312391775327-1775368, 1785024-1785028, 1785034-1785089
142TNNI2110.9143897996357475491861633-1861669, 1861758-1861760, 1862346-1862351, 1862363
143TNNT3110.98455598455598127771954970-1954971, 1954981-1954986, 1954999, 1955002, 1955016, 1955234
144H19110.908496732026149810712017608-2017612, 2017619, 2017822-2017832, 2017938-2017954, 2017964-2017984, 2018336-2018366, 2018374-2018385
145IGF2110.801687763713081417112154250-2154254, 2154301, 2154305-2154306, 2154323, 2154377, 2161365-2161369, 2161376-2161459, 2161469-2161499, 2161513-2161523
146TH110.9003174603174615715752187751-2187779, 2187863-2187865, 2187888-2187894, 2187902, 2187916, 2187922, 2187975-2187992, 2191015-2191046, 2191932-2191936, 2191942-2192000, 2192987
147KCNQ1110.8394879369768632620312466329-2466518, 2466530-2466552, 2466576-2466668, 2466698-2466714, 2606522, 2609943-2609944
148CDKN1C110.229232386961097339512905246-2905290, 2905361-2905364, 2905900-2906475, 2906494-2906498, 2906504-2906514, 2906532-2906540, 2906566-2906571, 2906578-2906592, 2906610-2906629, 2906665-2906699, 2906713-2906719
149SMPD1110.957278481012668118966411932-6411939, 6411948, 6411953-6411962, 6412739-6412742, 6412750-6412755, 6412762-6412772, 6412797, 6412856, 6412868-6412871, 6412879-6412903, 6413185-6413188, 6413199-6413202, 6413216, 6413221
150SBF2110.987207207207217155509809192-9809207, 10315562-10315616
151ABCC8110.9964180362410517474617424245, 17449836-17449847, 17464380, 17482103, 17482107-17482108
152USH1C110.93962962962963163270017517125-17517131, 17522616, 17522620-17522621, 17522645-17522655, 17530903-17530914, 17531071, 17531122-17531139, 17531164-17531208, 17531295-17531334, 17531981-17531986, 17542447-17542450, 17544406-17544415, 17565849-17565854
153LDHA110.998998998999199918422460
154SLC6A5110.999164578111952239420622875, 20623005
155ANO5110.9941648431801616274222248910-22248916, 22248920-22248927, 22277012
156FANCF110.9875555555555614112522646835-22646841, 22646998-22647003, 22647255
157PAX6110.9771473601260829126931811482-31811483, 31824314-31824339, 31824345
158WT1110.77477477477477350155432417942, 32456322-32456334, 32456503-32456526, 32456532, 32456581-32456891
159RAG1110.997126436781619313236595059-36595061, 36595441-36595444, 36595447, 36595485
160ALX4110.87378640776699156123644286595-44286606, 44286674-44286701, 44331147-44331180, 44331217, 44331223, 44331237, 44331246, 44331261-44331312, 44331344-44331347, 44331351-44331355, 44331376, 44331379, 44331384, 44331388-44331389, 44331394-44331395, 44331401, 44331406-44331413, 44331608
161SLC35C1110.76420454545455249105645827411-45827421, 45827428-45827429, 45827433-45827435, 45827523-45827678, 45827789-45827829, 45827835-45827847, 45827870-45827887, 45832327-45832331
162PEX16110.9750240153698426104145935911, 45937369-45937375, 45939264-45939266, 45939273-45939285, 45939296-45939297
163DDB2110.994548286604367128447236782-47236788
164MADD110.9959546925566320494447303149, 47307017-47307028, 47311432-47311438
165MYBPC3110.998954248366014382547368185-47368188
166SLC39A13110.9363799283154171111647431772-47431805, 47433911-47433926, 47434970-47434977, 47434986-47434988, 47434994-47434995, 47434998, 47435006, 47435039-47435043, 47435171
167RAPSN110.9903147699757912123947459582, 47463197, 47463446, 47464361-47464366, 47469535, 47469662, 47470350
168SERPING1110.9640718562874354150357365744-57365792, 57381927-57381931
169TMEM216110.99621212121212126461165447
170BEST1110.9943117178612110175861719375, 61723219, 61723254, 61723279-61723283, 61723398-61723399
171ROM1110.9801136363636421105662380776-62380780, 62380785-62380790, 62381101, 62381223, 62381236, 62381240-62381244, 62381256-62381257
172BSCL2110.9841612670986322138962457921, 62457945-62457965
173SLC22A12110.9590854392298468166264359166-64359178, 64367254-64367255, 64367264-64367312, 64367351-64367354
174PYGM110.9774614472123457252964521043-64521055, 64521125-64521144, 64521407-64521408, 64527128-64527149
175MEN1110.996212121212127184864572099, 64577523-64577527, 64577574
176RNASEH2C110.979797979797981049565487538-65487539, 65487862-65487868, 65487874
177EFEMP2110.99549549549556133265639816, 65639820-65639824
178CST6110.847245065779602-65779607, 65780297-65780323, 65780370-65780373, 65780380-65780390, 65780392-65780415
179BBS1110.997194163860835178266281987-66281988, 66298373-66298375
180SPTBN2110.96319531576746264717366453475-66453486, 66453491-66453495, 66455062, 66455065, 66457726-66457754, 66458825-66458829, 66458922-66458925, 66458976, 66460535-66460538, 66460834-66460861, 66461290-66461298, 66468075-66468079, 66468258-66468261, 66468266-66468267, 66468271, 66468306-66468308, 66468316-66468320, 66468349, 66468727, 66472242-66472243, 66472249-66472251, 66472270-66472295, 66472506-66472527, 66472600-66472642, 66472741-66472758, 66473190-66473193, 66473276-66473294, 66473299, 66481787-66481788, 66483375-66483376, 66483381
181PC110.9838846480067957353766618281, 66618324-66618326, 66618375, 66618577, 66620055-66620062, 66620096-66620100, 66620115, 66620122-66620125, 66633677-66633700, 66633818-66633820, 66638828-66638830, 66638845, 66638893, 66639187
182AIP110.8791540785498512099367257530-67257578, 67257799-67257826, 67257833-67257849, 67258281-67258298, 67258388-67258395
183NDUFS8110.946287519747243463367799793-67799803, 67803838, 67803929-67803930, 67803937-67803944, 67804049-67804060
184TCIRG1110.9751303650220662249367810270-67810275, 67810286-67810290, 67811321-67811330, 67811335-67811339, 67811345-67811354, 67811650-67811657, 67816574-67816584, 67816674-67816677, 67817165-67817167
185LRP5110.94100660066007286484868080183-68080273, 68131215-68131230, 68131362-68131395, 68133055-68133066, 68133140-68133170, 68153846-68153849, 68154084-68154092, 68154094, 68154103-68154108, 68181290, 68193550, 68201246-68201255, 68206055, 68207277-68207280, 68207331-68207366, 68207378-68207384, 68216406-68216427
186CPT1A110.996985357450477232268552388, 68564355-68564358, 68564363, 68564372
187IGHMBP2110.9949698189134815298268671422, 68704332-68704340, 68704346, 68704419-68704422
188DHCR7110.90126050420168141142871146456-71146487, 71146512-71146516, 71146542-71146610, 71146662-71146696
189LRTOMT110.99200913242009787671816021-71816023, 71819810-71819813
190MYO7A110.9957882069795428664876885824, 76890831-76890847, 76893199-76893200, 76903167-76903170, 76914114, 76922295, 76922363-76922364
191FZD4110.9702602230483348161486662884-86662886, 86665919-86665922, 86666078-86666118
192MTMR2110.9937888198757812193295657107-95657118
193TRPC6110.9996423462088712796101454177
194DYNC2H1110.992584009269999612945102991430, 102991529-102991531, 103014111-103014114, 103027192, 103044002-103044005, 103052544, 103052557-103052559, 103052601-103052615, 103057045-103057084, 103090663-103090664, 103092831-103092837, 103116027, 103158307, 103182660, 103191912-103191923
195ACAT1110.9961059190031251284107992377-107992381
196ATM110.9997819212735829171108163474-108163475
197RDX110.9960045662100571752110108230-110108236
198ALG9110.95479302832244831836111742083-111742145, 111742147-111742159, 111742172-111742178
199PTS110.997716894977171438112097175
200DRD2110.9992492492492511332113281449
201APOA1110.9577114427860734804116706524-116706527, 116706712, 116706729-116706730, 116706736-116706741, 116706777-116706784, 116706800-116706804, 116706886-116706892, 116708062
202SLC37A4110.9953183520599351068118897364-118897367, 118897371
203DPAGT1110.98125509372453231227118971349-118971362, 118971368-118971372, 118972264, 118972316-118972318
204ROBO3110.953136265320841954161124735543-124735574, 124735581-124735589, 124738873, 124738888-124738893, 124738901, 124738930-124738938, 124745560, 124745931-124745975, 124745999, 124746190-124746205, 124746256-124746265, 124746271-124746325, 124750445-124750453
205ACAD8110.9991987179487211248134123537
206WNK1120.973842495453911877149862844-862858, 862863-862871, 862878-862885, 862897-862900, 862975-862992, 863160, 863166-863171, 863220-863244, 863252-863275, 863281-863308, 989152-989156, 994349-994360, 994366-994371, 994796-994812, 1006687, 1017013-1017016, 1017022-1017023, 1017067-1017068
207CACNA2D4120.988283538371414034141902904-1902905, 1904899, 1904903, 1910238, 1994153-1994156, 2027512-2027542
208CACNA1C120.9797286998933113365612693732-2693733, 2705113-2705116, 2788728-2788730, 2791762-2791766, 2791777-2791792, 2794934-2794940, 2795332-2795342, 2797692, 2797706, 2797709, 2797716-2797719, 2797732, 2797805-2797850, 2797887-2797892, 2800289-2800298, 2800304-2800307, 2800313-2800316, 2800354-2800358, 2800364-2800365
209KCNA1120.99798387096774314885020587, 5020834-5020835
210VWF120.9709784411276924584426058218-6058221, 6122706-6122730, 6125717, 6125721-6125724, 6126023, 6126036, 6127532-6127538, 6127655-6127661, 6127940-6127946, 6128064-6128087, 6128502-6128508, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6140742, 6153569, 6166108-6166122, 6166151-6166155, 6166163-6166174, 6166187-6166238, 6184527-6184530
211TNFRSF1A120.981725146198832513686438510, 6438596-6438598, 6438607-6438615, 6438637-6438643, 6438705-6438708, 6438716
212SCNN1A120.986282578875173021876458557-6458558, 6458561-6458563, 6472625, 6472712-6472715, 6472751-6472753, 6472759-6472775
213TPI1120.916637506976731-6976749, 6976767-6976810
214ATN1120.985726280436615135737045906-7045934, 7045955, 7046188-7046198, 7046525-7046533, 7047134
215PEX5120.99947257383966118967344183
216AICDA120.9983249581239515978756909
217CDKN1B120.99329983249581459712871083-12871084, 12871103-12871104
218ABCC9120.9972043010752713465022065998, 22068660-22068671
219KRAS120.99298245614035457025380288-25380291
220PKP2120.9781225139220455251432955436, 33031889, 33049548-33049566, 33049599-33049604, 33049638-33049665
221KIF21A120.9901724829522749498639688290, 39688301-39688302, 39760270, 39760273, 39836729-39836772
222LRRK2120.999077004219417758440619049-40619050, 40637403-40637405, 40692956-40692957
223IRAK4120.997830802603043138344180202-44180204
224VDR120.9727414330218135128448240443, 48240454-48240455, 48251342-48251373
225COL2A1120.9858870967741963446448369243-48369261, 48376340, 48376367, 48377505-48377516, 48377894, 48398030, 48398073-48398100
226MLL2120.9194053208137713391661449420433-49420440, 49420519-49420525, 49420597, 49420601-49420602, 49420937, 49420944-49420951, 49424110, 49424113, 49424125, 49424132-49424135, 49424174-49424178, 49424419-49424422, 49424435, 49424443, 49425438-49425444, 49425813, 49425942, 49425945, 49426052-49426053, 49426057-49426058, 49426156-49426162, 49426170-49426173, 49426209, 49426453-49426494, 49426575-49426599, 49426607-49426686, 49426694-49427305, 49427311-49427333, 49427352-49427361, 49427380-49427402, 49427422-49427435, 49427451-49427453, 49427463, 49427467-49427474, 49427478-49427479, 49427484-49427487, 49427493-49427535, 49427567-49427616, 49427639-49427699, 49431174-49431177, 49431277-49431283, 49431292-49431387, 49431397, 49431401-49431404, 49431543, 49431550, 49431553, 49431649-49431655, 49431691-49431736, 49431743, 49431751-49431756, 49431764-49431771, 49431830-49431843, 49431868-49431912, 49432241-49432244, 49434097-49434100, 49434113-49434115, 49434126-49434129, 49434188, 49434519-49434523, 49438269-49438272
227DHH120.91015952980688107119149483642, 49483710-49483722, 49483746-49483755, 49483762-49483770, 49483834-49483865, 49483886-49483911, 49483976-49483983, 49484163-49484164, 49484213-49484215, 49488193-49488195
228TUBA1A120.99780701754386145649522213
229ACVRL1120.9583333333333363151252307093, 52307358-52307361, 52307382, 52307411-52307421, 52307428-52307435, 52307456-52307493
230KRT81120.9512516469038274151852680240-52680241, 52680251, 52680267, 52681056, 52681080, 52684020-52684042, 52684959-52684960, 52685008, 52685059-52685079, 52685190-52685210
231KRT86120.9459274469541479146152695749-52695780, 52695849-52695883, 52696925-52696934, 52699033, 52699044
232KRT83120.9898785425101215148252708562-52708568, 52713117-52713120, 52714899, 52714920-52714921, 52714933
233KRT6B120.9486725663716887169552841034-52841040, 52841164-52841177, 52841355-52841357, 52842733-52842739, 52843578-52843584, 52845527-52845534, 52845598-52845604, 52845662-52845687, 52845797-52845804
234KRT6C120.90796460176991156169552863038-52863041, 52863210-52863227, 52863539-52863546, 52864381, 52865903-52865929, 52866041-52866043, 52866052, 52867061-52867108, 52867186-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867457-52867482
235KRT6A120.9516224188790682169552881581-52881582, 52881586-52881591, 52881599-52881608, 52881719-52881739, 52885502, 52886637-52886644, 52886708-52886714, 52886772-52886797, 52886912
236KRT5120.90355329949239171177352908726-52908767, 52908797-52908802, 52908828-52908859, 52908871-52908909, 52908916-52908938, 52910518-52910544, 52912900, 52912931
237KRT2120.99843753192053045795-53045797
238KRT1120.9762273901808846193553070148-53070168, 53072427-53072428, 53072495-53072517
239KRT4120.999439775910361178553207863
240AAAS120.9750152346130441164153701394-53701433, 53708600
241RDH5120.99895506792059195756115203
242RPS26120.98275862068966634856436369-56436374
243MYO1A120.998084291187746313257430795-57430796, 57431805-57431808
244KIF5A120.9958050984188413309957944101-57944110, 57944181-57944183
245CYP27B1120.9842829076620824152758159790-58159810, 58159967-58159969
246TSFM120.982617586912071797858176591-58176607
247GNS120.9843279083785426165965141670-65141672, 65141680-65141682, 65152942, 65152968-65152986
248LEMD3120.94517543859649150273665563377-65563415, 65563421-65563435, 65563621-65563656, 65563754-65563759, 65563765-65563770, 65563776, 65563782-65563785, 65563853-65563859, 65563885-65563915, 65563951-65563954, 65564374
249LYZ120.98434004474273744769746987-69746993
250TPH2120.99796334012223147372416230-72416231, 72416235
251BBS10120.99631675874778217276742063-76742070
252CEP290120.9901881720430173744088472960-88472985, 88472996-88472997, 88505490-88505511, 88505570-88505590, 88505595, 88532968
253HAL120.997973657548134197496380936-96380939
254TMPO120.9731414868105556208598909784-98909786, 98909807-98909813, 98909820-98909829, 98909860-98909864, 98909885-98909910, 98921669, 98921680-98921683
255SLC17A8120.99209039548023141770100774557-100774570
256GNPTAB120.9992044550517133771102153809-102153810, 102153908
257UNG120.994692144373675942109535542-109535544, 109536291, 109547728
258MMAB120.998671978751661753109998888
259TRPV4120.9954128440367122616110221475-110221476, 110231768, 110232140, 110236630, 110236713-110236717, 110246221, 110252434
260ATP2A2120.965484180249281083129110719605-110719712
261MYL2120.9640718562874318501111348917-111348922, 111348926, 111348933, 111348947-111348952, 111348960-111348963
262ATXN2120.832572298325726603942111895110, 111895124-111895132, 112036588-112037226, 112037261-112037267, 112037307-112037309, 112037313
263PTPN11120.99214365881033141782112856916-112856929
264TBX5120.9967886962106651557114793786-114793789, 114793803
265TBX3120.876792114695342752232115109876-115109887, 115110042-115110043, 115111970-115112002, 115112033-115112168, 115112185-115112246, 115112322-115112326, 115112359-115112363, 115112388-115112392, 115112398, 115112403-115112404, 115112435-115112438, 115112626-115112627, 115118766-115118769, 115120838-115120839
266ACADS120.98870056497175141239121163714-121163724, 121176658-121176660
267HNF1A120.95253164556962901896121416619-121416622, 121416626-121416631, 121434344-121434378, 121437304-121437308, 121437323, 121437379-121437403, 121437412-121437418, 121438899-121438905
268HPD120.98477157360406181182122292611-122292628
269EIF2B1120.996732026143793918124116928-124116930
270ATP6V0A2120.99066511085181242571124197119-124197142
271PUS1120.864485981308411741284132414268-132414341, 132414452-132414495, 132414524-132414531, 132414539-132414542, 132414549, 132425965-132426003, 132426243-132426246
272SACS130.988791848617181541374023908982, 23911452-23911453, 23949258-23949408
273PDX1130.7863849765258218285228494413-28494446, 28494511, 28494543-28494556, 28494567-28494570, 28494576-28494616, 28494623-28494644, 28498640-28498651, 28498679-28498715, 28498757-28498759, 28498802-28498815
274B3GALTL130.9532398129592570149731774222-31774291
275BRCA2130.9994150336355761025732912100-32912103, 32912247, 32913648
276SPG20130.998000999500254200136886529, 36905549-36905551
277FREM2130.97581493165089230951039261571-39261579, 39261605-39261610, 39261628-39261658, 39261682-39261694, 39261753-39261762, 39261772-39261834, 39261854-39261860, 39261866-39261871, 39261893-39261941, 39261948-39261959, 39261995-39262002, 39262612-39262623, 39450279, 39450285-39450286, 39454896
278SLC25A15130.977924944812362090641381492-41381511
279TNFSF11130.975890985324952395443148445-43148455, 43148498-43148509
280SUCLA2130.994971264367827139248575338-48575344
281RB1130.9712952996053180278748878093, 48878111-48878178, 48934222, 48954211-48954220
282RNASEH2B130.942492012779555493951484214-51484258, 51484268-51484276
283ATP7B130.9977262391996410439852509135-52509136, 52518293-52518298, 52542742-52542743
284CLN5130.9836601307189520122477566101-77566105, 77566111-77566124, 77566170
285EDNRB130.9834462001504922132978474704-78474712, 78477674-78477678, 78492506-78492510, 78492520-78492522
286SLITRK1130.9923481587757116209184453769-84453784
287GPC6130.995803357314157166893879815-93879821
288ZIC2130.394621638524089681599100634319-100634714, 100634730-100634901, 100634907-100634926, 100634997-100635040, 100635061, 100635065-100635067, 100635196-100635215, 100635241-100635257, 100637255-100637258, 100637343-100637346, 100637577-100637597, 100637606-100637611, 100637643-100637679, 100637698-100637917, 100637934-100637936
289PCCA130.9986282578875232187100764247, 100925470, 100925474
290ERCC5130.99433828733192244239103460006, 103460013-103460022, 103515363-103515366, 103515377-103515382, 103515391-103515393
291COL4A1130.98662674650699675010110804781, 110804785, 110822949, 110835351-110835357, 110862372, 110959319-110959374
292F7130.892883895131091431335113765004-113765057, 113765077-113765141, 113765155-113765161, 113772923, 113772963-113772969, 113773180-113773181, 113773185-113773188, 113773235-113773237
293F10130.9965916837082551467113777184, 113798224, 113798229-113798230, 113798238
294GRK1130.97695035460993391692114321804, 114321824, 114322152-114322155, 114325927-114325940, 114426047-114426065
295TEP1140.98389142567225127788420841431-20841459, 20841544-20841558, 20846965-20846968, 20848529-20848530, 20850406-20850415, 20850441-20850489, 20850510, 20850815-20850821, 20850825, 20850837, 20850870, 20851744, 20852374, 20859148, 20859164-20859167
296RPGRIP1140.9987049987055386121769208-21769210, 21785862-21785863
297SLC7A7140.9915364583333313153623282117-23282129
298PABPN1140.6188925081433235192123790679-23791029
299MYH6140.9898625429553359582023855146-23855154, 23855161-23855171, 23858254, 23863350-23863353, 23863358-23863374, 23863434-23863443, 23871911-23871917
300MYH7140.9884641873278267580823883294-23883301, 23886744-23886749, 23886887, 23886890, 23887432, 23887437, 23887485, 23887524-23887539, 23887554-23887559, 23888426-23888433, 23889205, 23894209-23894212, 23894604-23894612, 23895992, 23895998, 23898526, 23898553
301NRL140.7577030812324917371424550538-24550540, 24550552-24550560, 24550575-24550728, 24550767-24550773
302PCK2140.9927197087883514192324568258, 24568265-24568271, 24572459-24572464
303TINF2140.998525073746312135624711179-24711180
304FOXG1140.65170068027211512147029236486-29236964, 29237094-29237096, 29237153-29237162, 29237339-29237351, 29237653-29237658, 29237791
305COCH140.990320629159116165331344270-31344284, 31355215
306CFL2140.9940119760479350135183744-35183746
307NKX2-1140.69568822553897367120636986493-36986497, 36986507-36986513, 36986575-36986630, 36986653-36986656, 36986693-36986900, 36986906-36986927, 36986946-36986953, 36987023-36987026, 36987102-36987108, 36987119, 36987124-36987130, 36987164, 36988255-36988259, 36988271-36988274, 36988304-36988307, 36988340-36988348, 36988354, 36988360, 36988367-36988379
308PAX9140.9756335282651125102637132165-37132186, 37132468, 37145557-37145558
309FANCM140.999186595087035614745605598, 45605686, 45623991, 45652986-45652987
310MGAT2140.9918154761904811134450088123-50088133
311C14orf104140.76770087509944584251450100619-50100644, 50100693-50100696, 50100701, 50100714-50100727, 50100751-50100757, 50100765-50100791, 50100798-50100883, 50100894-50100922, 50100962-50101010, 50101047-50101053, 50101065-50101145, 50101151-50101174, 50101226-50101273, 50101361-50101404, 50101412-50101458, 50101522-50101528, 50101540-50101572, 50101637-50101685, 50101841
312L2HGDH140.997844827586213139250778761-50778762, 50778767
313ATL1140.998796630565582166251094782-51094783
314PYGL140.968553459119580254451410911-51410913, 51410951-51410955, 51410957-51410963, 51410970, 51410977-51410990, 51411072-51411121
315GCH1140.7981407702523215275355312499-55312508, 55312516-55312517, 55369115-55369123, 55369131-55369133, 55369153, 55369236-55369292, 55369312-55369381
316OTX2140.99888143176734189457272104
317SIX6140.967611336032392474160976230-60976234, 60976370-60976379, 60976680-60976688
318SIX1140.963742690058483185561115429-61115444, 61115449-61115458, 61115748, 61115858-61115860, 61115863
319SYNE2140.99806987068134402072464447764-64447777, 64518572-64518576, 64580280-64580284, 64608703, 64669615, 64669619, 64676762, 64676767, 64676780, 64676821-64676827, 64691723-64691724, 64692121
320RDH12140.99158780231335895168193730-68193736, 68193799
321ZFYVE26140.9877952755905593762068215177-68215183, 68215349-68215356, 68241769, 68242715, 68251812-68251817, 68251821-68251825, 68251831, 68274122-68274125, 68274136-68274145, 68274164-68274167, 68274187, 68274218-68274246, 68274269-68274270, 68274370, 68274375-68274378, 68274385-68274393
322PSEN1140.995014245014257140473678565-73678571
323VSX2140.9686924493554334108674706412-74706437, 74706469-74706474, 74706604, 74706608
324EIF2B2140.9848484848484816105675471572-75471575, 75471592-75471603
325MLH3140.9889958734525448436275483807-75483854
326FLVCR2140.9721695129664844158176045373-76045390, 76045497-76045519, 76105755-76105757
327ESRRB140.92861820563196109152776957883-76957891, 76964667-76964750, 76964760-76964768, 76964786-76964792
328POMT2140.9640479360852281225377744785, 77786851-77786871, 77786884, 77786887, 77786895-77786904, 77786910-77786915, 77786939-77786951, 77786959-77786986
329GALC140.93537414965986133205888434762-88434767, 88459314-88459342, 88459385-88459421, 88459428-88459437, 88459450-88459500
330SPATA7140.997222222222225180088904188, 88904244-88904247
331ATXN3140.993554327808477108692537351-92537354, 92537366-92537368
332AMN140.680616740088114351362103395109-103395113, 103395502-103395541, 103395555-103395564, 103395591-103395595, 103395765-103395766, 103395803, 103395815-103395823, 103395832, 103396070-103396072, 103396275, 103396317-103396350, 103396357-103396410, 103396502-103396664, 103396743-103396783, 103396801-103396812, 103396819-103396827, 103396913-103396919, 103396934-103396959, 103397006-103397017
333INF2140.82646513750105167803-105167816, 105167856-105167864, 105167920-105167931, 105168003-105168052, 105170263-105170266, 105172381-105172418, 105173382, 105173661-105173663, 105173671-105173692, 105173708-105173710, 105173748-105173792, 105173799, 105173856-105174203, 105174246-105174290, 105174320-105174339, 105174797-105174802, 105174809-105174821, 105178018-105178024, 105179907, 105179911, 105180992-105180999
334NIPA1150.8202020202020217899023086234-23086411
335SNRPN150.957123098201943172325222088, 25222098-25222127
336UBE3A150.998477929984784262825616757, 25620773-25620775
337OCA2150.9864918553833934251728263543-28263567, 28263655-28263656, 28263661, 28263669-28263670, 28326984-28326987
338IVD150.9914129586260711128140698070, 40698078-40698083, 40698125-40698128
339CHST14150.81432360742706210113140763413-40763546, 40763564-40763565, 40763567-40763592, 40763629-40763638, 40763749-40763752, 40763783-40763816
340CAPN3150.998774509803923244842652076-42652077, 42702163
341CDAN1150.87812160694897449368443018341, 43018591, 43019922-43019949, 43023987, 43026169-43026172, 43026176-43026177, 43026195-43026202, 43026497-43026524, 43028515, 43028669-43028673, 43028686-43028693, 43028707-43028978, 43029211-43029300
342TTBK2150.999196787148593373543067378, 43164879-43164880
343STRC150.9634009009009195532843892489, 43892844-43892850, 43896228-43896238, 43896303-43896312, 43897496-43897505, 43900150-43900157, 43902600-43902614, 43902620, 43905024, 43905030, 43905035-43905044, 43905073-43905078, 43906228-43906230, 43907745-43907751, 43908052-43908054, 43908065-43908097, 43908120, 43908542, 43910136-43910139, 43910183-43910205, 43910260-43910269, 43910275-43910278, 43910440, 43910872-43910895
344STRC150.93641025641026124195044007207-44007213, 44007514-44007516, 44007527-44007559, 44007582, 44008004, 44009589-44009646, 44009657, 44009662-44009667, 44009722-44009731, 44009737-44009740
345SPG11150.999727223131482733244889100, 44914536
346DUOX2150.97460727350979118464745392415, 45392421-45392425, 45397971-45397972, 45397975-45397976, 45398403, 45398408-45398409, 45398412, 45398474-45398478, 45398486-45398493, 45398506, 45399069-45399078, 45401055-45401057, 45403383-45403390, 45403613-45403639, 45403671, 45403674, 45403713, 45403736-45403772, 45404042, 45404057
347GATM150.9638364779874246127245670597-45670642
348FBN1150.9972144846796724861648717989, 48737575-48737577, 48782179-48782197, 48936949
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360RPS17150.98039215686275840883207729-83207736
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364IGF1R150.976608187134596410499192811-99192896, 99250820-99250823, 99251235-99251238, 99251281-99251282
365HBZ160.39393939393939260429203891-204095, 204271-204319, 204382-204387
366HBM160.68544600938967134426216030-216035, 216049-216053, 216069-216070, 216267-216291, 216302-216308, 216327-216360, 216398-216431, 216451-216471
367HBA2160.8228438228438276429222929-222975, 223178-223185, 223215-223228, 223233-223236, 223531-223533
368GNPTG160.93464052287582609181401967-1402014, 1402278-1402281, 1402295-1402300, 1402305-1402306
369CLCN7160.9168734491315120124181497544-1497558, 1497714-1497715, 1500503-1500542, 1502803-1502804, 1502832, 1524835-1524975
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371GFER160.593851132686082516182034220-2034452, 2034460-2034469, 2034748-2034752, 2034803-2034805
372TSC2160.9535398230088525254242103345-2103348, 2103359-2103365, 2103370-2103377, 2103384-2103436, 2108766-2108770, 2121863-2121897, 2124201-2124219, 2124254-2124259, 2124334-2124377, 2126130-2126134, 2130190, 2133796-2133817, 2136206-2136216, 2136227-2136233, 2136280-2136288, 2136292, 2136298-2136301, 2136305-2136307, 2136322-2136329
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376SLX4160.98746594005456955053632401-3632414, 3632428, 3632439, 3632488-3632493, 3632589-3632596, 3632601-3632604, 3639240-3639255, 3639272, 3639276-3639281, 3639544, 3639783-3639787, 3639941-3639943, 3647835-3647837
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378GLIS2160.986666666666672115754386794-4386799, 4387104, 4387162-4387165, 4387196-4387198, 4387368-4387374
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380PMM2160.97975708502024157418891791-8891805
381MYH11160.9936026936026938594015811128-15811131, 15811185-15811186, 15818218-15818229, 15829308-15829309, 15829335, 15829338-15829339, 15829343, 15829347-15829348, 15829352-15829363
382ABCC6160.9933510638297930451216251649, 16263552-16263554, 16276714-16276717, 16276750-16276753, 16317274-16317291
383UMOD160.9719188767550754192320359771, 20359869, 20359880-20359889, 20360009-20360012, 20360090-20360094, 20360115-20360125, 20360137-20360142, 20360147, 20360151-20360158, 20360325-20360331
384OTOA160.9932748538011723342021696644-21696647, 21716587-21716590, 21716610-21716613, 21747697, 21752097-21752099, 21756211-21756217
385OTOA160.989959839357431099622568219-22568221, 22572334-22572340
386SCNN1B160.997919916796674192323360185, 23360199-23360200, 23391896
387COG7160.9861651534803332231323403701-23403702, 23415110, 23436092-23436108, 23436117-23436123, 23436129-23436133
388CLN3160.997722095671983131728493441-28493442, 28499039
389TUFM160.9298245614035196136828857351-28857373, 28857384-28857421, 28857551-28857578, 28857584-28857590
390ATP2A1160.9717232202262185300628911902, 28911945-28911986, 28912100-28912139, 28914231-28914232
391PHKG2160.9221949221949295122130760142-30760236
392FUS160.9791271347248633158131195221, 31195283-31195301, 31195310-31195319, 31195530, 31196401-31196402
393SLC5A2160.93759286775632126201931499739-31499741, 31499943-31499944, 31499963-31499967, 31499978-31499979, 31500046-31500090, 31500233, 31500246-31500268, 31500304-31500348
394PHKB160.9954296160877515328247533764-47533770, 47695649-47695654, 47695661, 47723026
395NOD2160.95645212936279136312350733432-50733437, 50733451-50733452, 50733504-50733515, 50733535-50733567, 50744829-50744830, 50744994-50744997, 50745035, 50745039-50745042, 50745052-50745057, 50745100-50745106, 50745116-50745117, 50745465-50745485, 50745518-50745538, 50745848-50745850, 50745862-50745865, 50745886-50745893
396CYLD160.9821802935010551286250785678-50785680, 50825472-50825480, 50825485-50825486, 50826561-50826597
397SALL1160.9761006289308295397551175235, 51175353-51175354, 51175404-51175418, 51175481-51175492, 51175639-51175695, 51185092-51185099
398RPGRIP1L160.999746707193521394853653023
399MMP2160.9591527987897181198355513401-55513448, 55513456-55513488
400BBS2160.996768236380427216656553679-56553685
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402COQ9160.99477533960293595757481418-57481421, 57485026
403GPR56160.998546511627913206457689339-57689341
404CNGB1160.9970713525026611375657918202, 57918205, 57957177-57957185
405TK2160.972943722943722592466583841-66583864, 66583895
406HSD11B2160.6871921182266381121867465152-67465338, 67465372-67465373, 67465383, 67465390, 67465402, 67469531, 67469588-67469591, 67469707-67469710, 67469742-67469743, 67469964-67470045, 67470152-67470184, 67470219-67470254, 67470568-67470572, 67470756-67470763, 67470815-67470818, 67470881, 67470886-67470890, 67470894-67470897
407LCAT160.9516250944822464132367973978-67973981, 67976436, 67976442-67976443, 67976483, 67976578-67976583, 67976647, 67976776, 67976847-67976859, 67976867-67976871, 67976967, 67976991-67977009, 67977015-67977021, 67977964, 67977968, 67977973
408CDH3160.9799196787148650249068679553-68679588, 68679614-68679625, 68719169-68719170
409CDH1160.9860324650811637264968771330-68771366
410CIRH1A160.999514798641441206169184541
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412AARS160.998624011007914290770292019-70292021, 70296338
413HP160.9320229320229383122172092153-72092159, 72092165-72092210, 72092221-72092239, 72093026-72093036
414GCSH160.77203065134111952281129760-81129805, 81129811-81129883
415GAN160.8907469342252196179481348719-81348885, 81388144-81388160, 81388209-81388218, 81391493-81391494
416MLYCD160.68016194331984474148283932750-83933146, 83933159-83933176, 83933186-83933221, 83933265-83933277, 83948590-83948594, 83948605-83948609
417LRRC50160.993112947658415217884179086-84179088, 84179135-84179142, 84179150, 84179162-84179163, 84182718
418FOXF1160.74736842105263288114086544176-86544261, 86544295-86544312, 86544483, 86544518-86544538, 86544583-86544617, 86544656-86544666, 86544670, 86544700-86544709, 86544854-86544880, 86544903, 86544931-86544961, 86544968-86545005, 86545119-86545126
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420JPH3160.83622607921673368224787636868-87636870, 87636878-87636899, 87636962-87636964, 87678283-87678306, 87723252-87723294, 87723300-87723345, 87723357-87723362, 87723428-87723490, 87723507-87723575, 87723603, 87723606, 87723612-87723617, 87723697-87723710, 87723718-87723720, 87723725-87723729, 87723740-87723767, 87723774-87723777, 87723889-87723905, 87723915, 87723963-87723968, 87723976-87723978
421CYBA160.7346938775510215658888709761-88709786, 88709796-88709832, 88709862-88709898, 88709924, 88709927, 88709948-88709975, 88712582-88712605, 88717382-88717383
422APRT160.90976058931864954388876478-88876503, 88876525-88876539, 88876548-88876552, 88877975-88877976, 88878288
423GALNS160.90885914595284143156988884455-88884475, 88893185-88893186, 88923166-88923285
424SPG7160.92546063651591178238889574826-89575003
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427PRPF8170.99957191780822370081561572-1561573, 1576786
428CTNS170.955112219451375412033552149, 3559863-3559868, 3559876-3559880, 3559978, 3560036-3560074, 3560088-3560089
429CHRNE170.99527665317139714824802611, 4804088, 4804426-4804430
430GP1BA170.953645833333338919204835919-4835933, 4837212-4837213, 4837476-4837518, 4837524-4837551, 4837779
431AIPL1170.986147186147191611556329945, 6330064-6330076, 6331803-6331804
432PITPNM3170.8981196581196629829256358663-6358664, 6358668-6358676, 6358698-6358770, 6358780-6358797, 6358809-6358835, 6358842-6358856, 6358869-6358896, 6358905-6358963, 6373586, 6374482-6374517, 6374617, 6381301-6381307, 6459705-6459726
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434CHRNB1170.99601593625498615067348502, 7348727-7348728, 7357675-7357677
435MPDU1170.9247311827957567447490278-7490319, 7490335, 7490490-7490494, 7490523-7490525, 7490533, 7490537-7490539, 7490548
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437ALOX12B170.99952516619183121067976205
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440MYH8170.9840041279669893581410297694, 10301917-10301957, 10302111-10302145, 10302153, 10302200-10302203, 10303807-10303812, 10303819, 10315753-10315756
441MYH2170.99965671129422582610427931, 10450844
442MYH3170.9929589558646741582310532918, 10534932-10534957, 10541668, 10555833-10555845
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444PMP22170.881987577639755748315163968-15163986, 15164003-15164040
445TNFRSF13B170.99773242630385288216843755, 16855878
446FLCN170.9902298850574717174017117057-17117062, 17117069-17117079
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448ATPAF2170.99770114942529287017924495, 17924502
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450UNC119170.7109266943291820972326879356-26879547, 26879553-26879562, 26879569-26879575
451SLC6A4170.99735868991025189328543213-28543215, 28548923-28548924
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561PRX190.96283629730962163438640900669-40900671, 40900697-40900701, 40900856, 40901257, 40901303-40901317, 40901328-40901332, 40901346-40901347, 40902351, 40903425-40903426, 40903432-40903437, 40904529-40904530, 40904534-40904543, 40909613-40909637, 40909648-40909658, 40909676-40909734, 40909755-40909769
562TGFB1190.9258312020460487117341837011, 41837021-41837024, 41837048-41837073, 41838071, 41858687-41858695, 41858703-41858704, 41858718-41858721, 41858756-41858761, 41858766-41858777, 41858915-41858936
563ATP1A3190.96084828711256144367842470960-42470961, 42470968, 42471047-42471054, 42471086-42471096, 42471107-42471131, 42471194-42471195, 42471313-42471316, 42471322-42471378, 42479836-42479842, 42480568-42480578, 42480705-42480711, 42486181-42486182, 42486197-42486200, 42489323, 42489332, 42498228
564ETHE1190.99607843137255376544031279-44031281
565BCAM190.9496555378908395188745312383-45312440, 45315429-45315430, 45323962-45323963, 45324029, 45324032, 45324038-45324049, 45324057-45324070, 45324174-45324178
566APOE190.6561844863731732895445411882-45411926, 45411965-45411984, 45412002-45412008, 45412078-45412124, 45412145-45412159, 45412165-45412274, 45412327, 45412341-45412383, 45412462-45412467, 45412474-45412507
567BLOC1S3190.4876847290640431260945682580-45682585, 45682596-45682598, 45682666, 45682669-45682673, 45682693-45682697, 45682702, 45682778, 45682785-45682790, 45682831-45682832, 45682846-45683127
568ERCC2190.9632063074901484228345854979, 45856397-45856404, 45867010-45867042, 45867047, 45867088-45867090, 45867122-45867123, 45867136-45867137, 45867146-45867149, 45867163-45867169, 45867305-45867327
569OPA3190.99815837937385154346032419
570SIX5190.72657657657658607222046268967-46268995, 46269239-46269240, 46269684-46269689, 46269766-46269769, 46269893-46269907, 46269912, 46269918-46269932, 46270149-46270164, 46270362, 46271317-46271337, 46271361, 46271435-46271439, 46271450, 46271456-46271488, 46271502-46271505, 46271522-46271609, 46271683-46271707, 46271709, 46271713-46271714, 46271717-46271725, 46271775-46272102
571DMPK190.8994708994709190189046273778-46273782, 46273809-46273832, 46274265-46274279, 46274289-46274304, 46274310-46274315, 46281385-46281402, 46281863, 46285494-46285537, 46285550-46285610
572FKRP190.53629032258065690148847258709-47258716, 47258787-47258790, 47258922-47258949, 47259017-47259056, 47259066-47259307, 47259320-47259326, 47259336-47259441, 47259459-47259540, 47259579-47259600, 47259611-47259652, 47259658-47259681, 47259709-47259714, 47259725-47259770, 47259793-47259796, 47259804-47259809, 47260041-47260055, 47260082, 47260086-47260087, 47260097, 47260105-47260107, 47260170
573CRX190.99666666666667390048342650-48342652
574DBP190.7055214723926428897849138837-49139092, 49139118-49139127, 49139137-49139158
575BCAT2190.99915182357931117949314259
576MED25190.93894830659537137224450321615-50321637, 50333133-50333160, 50333171-50333176, 50333472-50333473, 50333775-50333788, 50334105-50334108, 50334121-50334144, 50334604-50334618, 50335407-50335414, 50338792, 50338798, 50338806-50338809, 50338847, 50339046-50339048, 50339495, 50339572, 50339587
577PNKP190.9374201787994998156650364537-50364538, 50364882, 50365489-50365492, 50365628-50365630, 50365637-50365667, 50365795-50365816, 50365835-50365858, 50370439-50370449
578MYH14190.96203567337588232611150713641-50713692, 50713731-50713735, 50713740-50713755, 50713976-50714017, 50714026, 50733833-50733843, 50733848-50733850, 50733858-50733863, 50753875-50753876, 50762415-50762418, 50762422, 50766627-50766628, 50766635, 50770230-50770240, 50779261-50779268, 50779276-50779277, 50779282, 50779288-50779296, 50779312-50779316, 50779339-50779359, 50779375, 50780102-50780103, 50784868-50784870, 50784926-50784945, 50792717-50792718, 50795635
579KCNC3190.551011433597191021227450823503-50823605, 50826274-50826294, 50826347-50826366, 50826397-50826453, 50826472, 50826563-50826567, 50826641, 50826724, 50831470-50831472, 50831491-50831498, 50831519-50832064, 50832085-50832339
580KLK4190.98954248366013876551411644-51411645, 51412513, 51412611-51412615
581ETFB190.9490874159462153104151856433, 51856538-51856544, 51857404-51857444, 51857466, 51857469, 51857482-51857483
582NLRP12190.93471437539234208318654313077-54313100, 54313439-54313442, 54313446-54313450, 54313587-54313588, 54313614-54313661, 54313754-54313761, 54313825-54313829, 54313854-54313860, 54313865-54313868, 54313875-54313887, 54313917-54313925, 54313934-54313942, 54313951-54313958, 54313965-54314009, 54314096-54314101, 54314280-54314281, 54314383-54314391
583PRKCG190.86914995224451274209454385749-54385795, 54385808-54385829, 54387483-54387487, 54392926-54392941, 54392947-54393001, 54393003, 54393140-54393266, 54410089
584PRPF31190.998666666666672150054632695-54632696
585TSEN34190.908896034297968593354695248, 54695276-54695308, 54695317-54695361, 54695378-54695379, 54695419, 54696093-54696095
586NLRP7190.9874759152215839311455450933-55450960, 55450975-55450985
587TNNT1190.967046894803552678955648571, 55652300-55652306, 55657802-55657813, 55658049-55658053, 55658522
588TNNI3190.901477832512326060955667571-55667630
589TPO20.89543183440429328021480859-1480866, 1480961-1480986, 1481018-1481041, 1481056-1481134, 1481140-1481179, 1481188-1481295, 1481369, 1497595-1497596, 1497612-1497614, 1507768-1507769
590RPS720.9863247863247985853623246-3623248, 3623254-3623258
591KLF1120.9616634178037759153910183844-10183885, 10188428-10188434, 10188443-10188448, 10188457-10188460
592LPIN120.998129442573895267311955316, 11955329-11955332
593MYCN20.69318996415771428139516082188-16082193, 16082198, 16082202, 16082382-16082414, 16082424-16082491, 16082520, 16082534-16082602, 16082638-16082846, 16082863-16082884, 16082892-16082909
594MATN320.86516084873374197146120212180-20212274, 20212284-20212296, 20212304-20212392
595APOB20.99189307624891111369221232988-21233023, 21266736-21266810
596POMC20.911691542288567180425384140-25384144, 25384151-25384158, 25384168-25384192, 25384316, 25384355-25384359, 25384416-25384440, 25384481, 25384488
597HADHA20.998254799301924229226416482-26416485
598HADHB20.998596491228072142526486345, 26508315
599OTOF20.95378712045379277599426696859-26696895, 26696922, 26696942, 26696948, 26697381-26697422, 26697540-26697542, 26699759-26699911, 26700053-26700055, 26700063, 26700066, 26700114-26700116, 26700123-26700131, 26700140-26700147, 26700530-26700537, 26700543-26700547, 26717900
600EIF2B420.994485294117659163227592304, 27592851-27592858
601C2orf7120.9860356865787454386729287844, 29287862-29287865, 29293820-29293845, 29293869-29293875, 29294056-29294057, 29295403-29295404, 29295446-29295447, 29295455, 29295458, 29295521-29295528
602ALK20.9851943244910572486329443620-29443626, 29462554-29462556, 29462634, 29462637, 29754884-29754892, 29754899-29754903, 29754919-29754920, 30143385-30143392, 30143408-30143433, 30143440, 30143444, 30143496-30143503
603XDH20.99200399800132400231571201-31571207, 31588343, 31604499-31604522
604SPAST20.82603997839006322185132288994-32289315
605CYP1B120.85171568627451242163238301669, 38301677, 38301681, 38301903, 38301955-38301963, 38301972-38302014, 38302047-38302064, 38302069, 38302075, 38302090-38302096, 38302159-38302227, 38302240-38302241, 38302279-38302329, 38302387-38302417, 38302439-38302444
606SOS120.999250374812593400239224558, 39285828-39285829
607ABCG520.93711656441718123195644047125, 44050058-44050061, 44058916-44058919, 44058938-44058950, 44058966-44059006, 44059100-44059107, 44059112-44059116, 44059124-44059127, 44059138-44059144, 44059152-44059161, 44059185-44059210
608ABCG820.9930761622156314202244099373-44099378, 44099440, 44102349-44102355
609LRPPRC20.9966547192353614418544126677-44126678, 44222955, 44223035-44223038, 44223079-44223085
610SIX320.8698698698698713099945169324-45169399, 45169435-45169437, 45169456-45169458, 45169520-45169527, 45169593-45169601, 45169638-45169650, 45169791-45169794, 45170025-45170033, 45171746-45171750
611EPCAM20.943915343915345394547596645-47596649, 47596667-47596699, 47606133-47606147
612MSH620.93632133235366260408348010373-48010632
613LHCGR20.9533333333333398210048982661-48982704, 48982751-48982804
614FSHR20.99856321839083208849190046, 49190580-49190581
615NRXN120.9787570621468994442550758477-50758491, 51254910-51254919, 51254927-51254932, 51254936-51254938, 51255061-51255064, 51255080, 51255107-51255110, 51255114-51255119, 51255124-51255129, 51255142-51255154, 51255160-51255163, 51255272-51255290, 51255323-51255325
616EFEMP120.997300944669374148256103874-56103877
617ATP6V1B120.9533073929961172154271163085-71163133, 71188053-71188072, 71192229, 71192237, 71192251
618MCEE20.99811676082863153171337110
619DYSF20.9922955974842849636071693973-71693977, 71694035-71694053, 71753422-71753425, 71753457-71753459, 71753467-71753476, 71783137-71783140, 71801441, 71827901-71827903
620SPR20.6590330788804126878673114562-73114734, 73114746-73114754, 73114765-73114846, 73118516, 73118578-73118580
621ALMS120.987843889955211521250473612997-73613074, 73613262-73613285, 73676167-73676169, 73676177-73676188, 73676194-73676198, 73676466-73676467, 73676612-73676614, 73676645-73676657, 73676666-73676669, 73679704, 73679746, 73746943-73746948
622SLC4A520.9912126537785630341474460571-74460576, 74513013-74513029, 74531616-74531621, 74542075
623DCTN120.9942663539223422383774590488-74590492, 74593119, 74596301-74596303, 74596447, 74596493-74596496, 74596557, 74605329-74605335
624MOGS20.9634049323786892251474690041-74690046, 74691646, 74692099-74692107, 74692113-74692158, 74692239-74692242, 74692349-74692374
625HTRA220.9310094408133695137774757170-74757174, 74757231-74757274, 74757333-74757359, 74757379-74757393, 74757459-74757462
626SUCLG120.992315081652268104184668540, 84686364-84686370
627GGCX20.992534036012317227785788524-85788525, 85788530-85788535, 85788543-85788551
628SFTPB20.9816753926701621114685895260-85895280
629REEP120.945544554455453360686479089, 86564602-86564633
630EIF2AK320.96717397791704110335188926641-88926646, 88926653-88926655, 88926658, 88926668-88926710, 88926724-88926780
631TMEM12720.887029288702938171796930907-96930927, 96930991, 96931006-96931029, 96931056-96931063, 96931067, 96931073-96931091, 96931106-96931112
632SNRNP20020.99984401809391641196964609
633ZAP7020.9521505376344189186098340685-98340687, 98340696-98340704, 98340712-98340713, 98340752, 98340755, 98340766-98340770, 98340800, 98340839-98340862, 98341659, 98341666-98341669, 98349397, 98354036-98354040, 98354047-98354070, 98354081-98354086, 98354510-98354511
634CNGA320.996642685851327208598996657-98996663
635RANBP220.965891472868223309675109336127-109336134, 109352102, 109352188, 109352637-109352644, 109357110-109357116, 109365376, 109367754, 109368104-109368111, 109368433, 109371361-109371362, 109371656-109371662, 109374947-109374990, 109378557-109378558, 109382787-109382796, 109383027-109383058, 109383107-109383148, 109383207, 109383262-109383289, 109383315-109383321, 109383769-109383806, 109383822-109383841, 109383968-109384013, 109384469, 109384714-109384727
636NPHP120.9970501474926362034110917744-110917749
637MERTK20.981573000112656313-112656362, 112656373, 112765973-112765976, 112786046, 112786196
638GLI220.7802982566687710464761121555013-121555026, 121709009-121709011, 121726365, 121726447-121726465, 121727988, 121727992-121727993, 121728008-121728044, 121728096-121728108, 121729591, 121745908-121745926, 121745939-121745942, 121745969-121745970, 121745978-121746000, 121746004-121746009, 121746042-121746043, 121746078-121746505, 121746517-121746523, 121746540-121746545, 121746566, 121746569, 121746635-121746641, 121746651-121746695, 121746737-121746749, 121746774-121746822, 121746864-121746865, 121746949-121746957, 121747054-121747063, 121747103, 121747152-121747168, 121747183-121747233, 121747253, 121747326-121747332, 121747339-121747436, 121747457-121747499, 121747574-121747622, 121747639-121747675, 121747785-121747801
639BIN120.94668911335578951782127806128-127806130, 127808055, 127808071, 127808075, 127808378-127808386, 127808404-127808417, 127808482-127808488, 127808789-127808790, 127808798-127808801, 127811021, 127811557-127811560, 127816630-127816633, 127864445-127864463, 127864488-127864510, 127864518-127864519
640PROC20.893939393939391471386128178865-128178911, 128178987, 128180516-128180517, 128180610-128180611, 128180636-128180663, 128180683-128180747, 128186110-128186111
641CFC120.80357142857143132672131280371-131280477, 131285309-131285333
642RAB3GAP120.9996605566870312946135911381
643LCT20.99170124481328485784136561577, 136561651-136561654, 136575552-136575558, 136590684-136590696, 136590743-136590756, 136594200-136594203, 136594207, 136594226-136594229
644MCM620.98175182481752452466136616947-136616984, 136633914-136633920
645ZEB220.97887517146776773645145161522-145161525, 145274845-145274917
646NEB20.997797136277164419974152390751-152390756, 152402512, 152403951-152403957, 152417765-152417770, 152423894, 152432809-152432820, 152470824-152470825, 152473963, 152497128, 152514532, 152554071-152554074, 152584331, 152584334
647CACNB420.9942418426103691563152955481-152955489
648SCN2A20.982552342971091056018166170412-166170426, 166172004-166172006, 166179718, 166179722, 166179726-166179728, 166187876-166187885, 166187928, 166187944, 166187949, 166187967, 166188060, 166210773-166210778, 166210847, 166211017-166211063, 166211093-166211094, 166211145-166211148, 166223862-166223868
649GALNT320.9989484752891721902166611150-166611151
650SCN1A20.99833249958312105997166847804-166847805, 166848692, 166848796, 166848812-166848815, 166892603-166892604
651SCN9A20.99662959218065205934167083214, 167085409, 167141117-167141134
652ABCB1120.9992435703479633966169789028-169789030
653SLC25A1220.99214531173294162037172641805-172641818, 172750713-172750714
654ITGA620.944139194139191833276173292517-173292698, 173338881
655CHRNA120.98180494905386251374175618396-175618410, 175618429-175618438
656CHN120.98623188405797191380175869622-175869640
657HOXD1320.574612403100784391032176957619-176957858, 176957875-176958061, 176958264-176958275
658AGPS20.98988366211431201977178257577, 178257591-178257594, 178257605-178257619
659PRKRA20.9861995753715513942179315699-179315700, 179315717-179315727
660TTN20.99877304285372123100248179392332-179392369, 179392381-179392384, 179408713, 179422633-179422634, 179422824-179422825, 179425474, 179425503, 179431370, 179437809, 179437871-179437873, 179437956, 179437966, 179438132-179438137, 179438196, 179447754-179447757, 179448591-179448593, 179465636, 179466741, 179482758, 179510700-179510702, 179510735-179510753, 179514962-179514966, 179516652-179516655, 179565930, 179575595, 179597767-179597771, 179597996-179597999, 179598164-179598166, 179629004, 179641436, 179650815-179650817
661NEUROD120.9971988795518231071182542831-182542833
662COL3A120.98182231311066804401189860444-189860449, 189860476-189860503, 189867734, 189867745-189867751, 189871663-189871681, 189872611-189872629
663COL5A220.99111111111111404500189904136-189904137, 189910583-189910591, 189918182, 189925469-189925471, 189929339-189929341, 189932768-189932789
664PMS120.9982136477313352799190682810-190682813, 190719100
665MSTN20.9982269503546121128190926992-190926993
666STAT120.99201065246338182253191843669-191843673, 191859862-191859866, 191859877, 191859884, 191859888-191859893
667HSPD120.97560975609756421722198351826-198351867
668CASP1020.999362651370311569202050781
669CASP820.95732838589981691617202137491-202137494, 202149609-202149617, 202149627-202149682
670ALS220.9995979091274624974202593336-202593337
671BMPR220.9996791786974713117203420804
672NDUFS120.9995421245421212184207014545
673FASTKD220.9803094233474422133207652767-207652779, 207652821-207652843, 207652863-207652868
674ACADL20.993812838360481293211068113, 211089912-211089918
675CPS120.99600266489007184503211455581-211455583, 211455590-211455592, 211455619-211455630
676ABCA1220.99101181304571707788215815676, 215854053-215854071, 215854081-215854094, 215854174-215854183, 215854288-215854296, 215854309-215854319, 215854331, 215854337-215854341
677SMARCAL120.99406631762653172865217280176, 217297469, 217297472, 217347658-217347671
678PNKD20.97927461139896241158219204567-219204573, 219204587, 219204593-219204608
679WNT10A20.866826156299841671254219745728-219745748, 219745785-219745795, 219754964, 219757602-219757605, 219757613, 219757658-219757706, 219757712-219757744, 219757760-219757790, 219757824-219757826, 219757874-219757877, 219757902-219757904, 219757918-219757923
680DES20.872611464968151801413220283186-220283187, 220283196, 220283201, 220283204, 220283255-220283292, 220283303, 220283356-220283362, 220283395-220283403, 220283414-220283460, 220283566-220283572, 220283587-220283624, 220283704-220283731
681OBSL120.836056931997899335691220416267-220416291, 220416315-220416338, 220416396-220416404, 220416410-220416429, 220416456-220416485, 220417263-220417269, 220417285-220417343, 220417354-220417361, 220417368-220417419, 220417611-220417614, 220417730-220417739, 220420892-220420893, 220423039, 220432593, 220432920, 220434995-220435002, 220435011, 220435083, 220435228-220435229, 220435245-220435251, 220435283-220435329, 220435341-220435954
682PAX320.9980237154150231518223066826-223066827, 223161789
683COL4A420.99111374407583455064227872819, 227920739-227920741, 227973959-227973981, 227973986, 227985821-227985837
684COL4A320.98823060043886595013228029468-228029471, 228029507-228029529, 228113219-228113225, 228141164, 228144527, 228162422-228162427, 228162459-228162461, 228162513-228162518, 228163404-228163410, 228163516
685SLC19A320.95975855130785601491228563648-228563654, 228563988-228563997, 228564003-228564012, 228564019-228564028, 228564050-228564071, 228564141
686CHRND20.99742599742641554233390929-233390932
687CHRNG20.94980694980695781554233405312-233405321, 233405331-233405349, 233409161-233409188, 233409193, 233409202-233409206, 233409210, 233409241-233409243, 233409250-233409254, 233409258-233409261, 233409538, 233410291
688SAG20.9950738916256261218234243635, 234243642-234243646
689UGT1A120.9987515605493121602234669037-234669038
690COL6A320.981329976924691789534238244902, 238249297, 238249505-238249506, 238250747-238250751, 238250762, 238252996-238253001, 238270432-238270436, 238283065-238283115, 238283333-238283342, 238283348-238283363, 238283428-238283433, 238283446, 238283450-238283451, 238287535-238287568, 238303432, 238303437-238303463, 238303489, 238303501-238303508
691AGXT20.94826123833757611179241808283-241808310, 241808321-241808350, 241808391-241808393
692D2HGDH20.872286079182632001566242674721-242674723, 242674730-242674733, 242674861, 242674864, 242674895-242674922, 242680500-242680505, 242689612, 242695421-242695429, 242707152-242707164, 242707191-242707216, 242707231-242707235, 242707243-242707244, 242707249, 242707253-242707259, 242707280-242707372
693C20orf54200.97730496453901321410744369-744373, 745941-745945, 745954-745966, 746304-746307, 746407-746411
694IDH3B200.98531951640761711582640427, 2641123-2641126, 2641181-2641192
695AVP200.276767676767683584953063276-3063448, 3063623-3063709, 3063716-3063763, 3063775-3063824
696PANK2200.7682428488032739717133869773-3869776, 3869863-3869914, 3869933-3870021, 3870028-3870032, 3870076, 3870096-3870112, 3870120-3870145, 3870152-3870309, 3870331-3870375
697FERMT1200.99803343166175420346077549-6077551, 6091069
698MKKS200.99941622883831171310385979
699JAG1200.9762100082034587365710620287, 10623160-10623161, 10653419, 10653544-10653551, 10654104-10654178
700C20orf7200.9807321772639720103813765763-13765766, 13765926-13765936, 13782216-13782220
701THBD200.88946759259259191172823028953-23028962, 23029299-23029335, 23029457-23029464, 23029540-23029546, 23029583-23029587, 23029636-23029675, 23029688-23029700, 23029713-23029746, 23029830-23029836, 23029885-23029906, 23029919, 23030015, 23030105-23030110
702SNTA1200.79776021080369307151832000102-32000123, 32000167, 32000207-32000209, 32031146-32031426
703GDF5200.9508632138114274150634022218-34022220, 34022395-34022396, 34022402-34022413, 34022432, 34025162-34025169, 34025176, 34025181-34025201, 34025226-34025232, 34025520, 34025528-34025534, 34025544-34025552, 34025560-34025561
704SAMHD1200.9909622541201517188135579857-35579859, 35579863-35579872, 35579884-35579887
705HNF4A200.9775438596491232142543052714, 43052717, 43052730, 43052752-43052773, 43052780-43052786
706ADA200.9780219780219824109243255136-43255145, 43255147, 43257765, 43257769-43257773, 43280216-43280218, 43280245-43280248
707CTSA200.9706078824315344149744520234-44520257, 44520272-44520277, 44520284-44520292, 44520299, 44523633-44523636
708CD40200.99760191846523283444756969-44756970
709SLC2A10200.9784747847478535162645338376, 45354150, 45354154-45354159, 45354168-45354175, 45354296-45354297, 45354509, 45354701-45354702, 45354884, 45354890-45354900, 45354907, 45354911
710SALL4200.9860847564832444316250406855-50406856, 50407200-50407203, 50408288-50408289, 50408295-50408297, 50408336-50408357, 50408437-50408438, 50418838-50418842, 50418944-50418947
711PCK1200.998929909042272186956137828-56137829
712VAPB200.92076502732245873256964516-56964573
713GNAS200.945799457994584073857415179-57415208, 57415231-57415234, 57415267, 57415272-57415273, 57415586-57415588
714GNAS200.83558124598587512311457428717-57428720, 57428890-57428904, 57429065-57429110, 57429251-57429280, 57429418-57429487, 57429494-57429502, 57429529-57429565, 57429583-57429624, 57429660, 57429663, 57429667-57429668, 57429671, 57429681-57429690, 57429754-57429801, 57429825-57429883, 57429924-57429966, 57429985, 57429989-57429998, 57430003, 57430037-57430054, 57430093-57430134, 57430172-57430177, 57430243-57430254, 57430265-57430266, 57430271-57430272
715EDN3200.98605299860531071757875910-57875919
716COL9A3200.92846715328467147205561448417-61448494, 61448926-61448972, 61456343-61456345, 61456349-61456354, 61456361-61456373
717CHRNA4200.90552016985138178188461981091-61981094, 61981121-61981127, 61981335, 61981338, 61981574-61981617, 61981681-61981720, 61981766-61981770, 61992442-61992517
718KCNQ2200.84154257350134415261962038012-62038016, 62038055-62038060, 62038271-62038279, 62038361-62038372, 62038563-62038568, 62038588-62038620, 62038639-62038644, 62044847-62044854, 62059766-62059769, 62076655-62076668, 62078100-62078121, 62103521-62103757, 62103764-62103816
719SOX18200.13679653679654997115562679552-62679555, 62679561, 62679572, 62679575, 62679611-62679615, 62679624-62679639, 62679651-62679657, 62679664-62679669, 62679680-62679682, 62679721-62680315, 62680512-62680869
720APP210.9766536964980554231327423334-27423335, 27542882-27542893, 27542899-27542938
721BACH1210.9638172772501180221130715016-30715054, 30715060-30715091, 30715111-30715119
722SOD1210.98709677419355646533032099, 33032106, 33032111-33032114
723IFNGR2210.89842209072978103101434775850-34775922, 34799238-34799267
724RCAN1210.6679841897233225275935987059-35987310
725RUNX1210.91198891198891127144336164432-36164476, 36164556, 36164610-36164614, 36259213, 36259217-36259218, 36259286-36259321, 36259348-36259384
726CLDN14210.99861111111111172037833393
727TMPRSS3210.9912087912087912136543809073-43809075, 43809087-43809094, 43809100
728CSTB210.777777777777786629745196085-45196150
729AIRE210.77960927960928361163845705890-45706021, 45706459-45706472, 45706580-45706582, 45706870-45706873, 45706880-45706889, 45706980-45706985, 45708280-45708286, 45711014-45711036, 45711088-45711093, 45712204-45712208, 45712906-45712911, 45712916, 45712920-45712922, 45712929, 45712935-45712937, 45712952-45712977, 45712991-45713020, 45713036-45713058, 45713783, 45714284-45714307, 45714334-45714346, 45714367-45714386
730ITGB2210.92813852813853166231046306759, 46306766-46306778, 46308608-46308718, 46308736-46308739, 46308758-46308793, 46309385
731COL18A1210.91111111111111468526546875484-46875500, 46875509-46875516, 46876177-46876179, 46876202-46876225, 46876320-46876326, 46876471, 46876474-46876475, 46876483-46876494, 46876500-46876517, 46876523-46876556, 46876572-46876574, 46876654-46876670, 46876705-46876709, 46876713, 46876719-46876723, 46888179, 46888223-46888243, 46888643, 46888646-46888648, 46897708-46897710, 46906805-46906806, 46906818-46906822, 46906826-46906828, 46906834-46906878, 46908336-46908341, 46911180, 46913077-46913089, 46913114-46913128, 46913415-46913438, 46913466, 46916448-46916453, 46924408-46924452, 46929313-46929317, 46929363-46929365, 46929455-46929470, 46929978-46929997, 46930032-46930053, 46930149, 46930162-46930165, 46931060, 46931071, 46931084-46931088, 46931099, 46932143-46932179
732COL6A1210.93553611920959199308747401765-47401847, 47404287, 47404294, 47410172-47410178, 47419126-47419132, 47419571-47419594, 47420673-47420681, 47421275-47421276, 47422200-47422201, 47422292-47422315, 47423405-47423410, 47423414, 47423485-47423515, 47423535
733COL6A2210.88235294117647360306047531391-47531399, 47531416-47531444, 47531492-47531493, 47531952, 47538551-47538552, 47539702-47539709, 47539755-47539761, 47541008, 47541481-47541485, 47542060, 47545180-47545182, 47545192, 47545521-47545531, 47545699-47545716, 47545754-47545796, 47545808-47545814, 47545943-47545965, 47545978-47545988, 47546092-47546108, 47546134-47546139, 47551876-47551901, 47551974-47552012, 47552075-47552088, 47552096-47552103, 47552192-47552197, 47552206-47552208, 47552334-47552351, 47552367-47552377, 47552417-47552446
734COL6A2210.789473684210537234247552192-47552197, 47552206-47552208, 47552334-47552351, 47552367-47552377, 47552417-47552446, 47552489-47552492
735FTCD210.9557195571955772162647565459-47565492, 47565732-47565762, 47565790, 47565801-47565804, 47574171, 47574234
736PCNT210.980621316551791941001147744158-47744192, 47754449, 47754510, 47766859-47766862, 47771386-47771389, 47783708, 47783711, 47783725, 47783733, 47783737, 47786592-47786598, 47786675, 47801690-47801694, 47810745, 47817998-47818011, 47831308, 47831314-47831317, 47831368, 47831371, 47831447-47831488, 47831784-47831785, 47832851, 47836132-47836137, 47836715-47836723, 47848365, 47848420-47848432, 47848439-47848447, 47850027, 47850038-47850039, 47850126-47850130, 47850137-47850140, 47850480-47850487, 47858095-47858100
737PEX26220.969498910675382891818561206-18561210, 18561218-18561240
738PRODH220.8075429839157347180318900772-18900781, 18904411-18904447, 18905842-18905845, 18908874, 18908889-18908910, 18908919-18908922, 18923532-18923800
739GP1BB220.07246376811594257662119711382-19711392, 19711402-19711890, 19711897-19711972
740TBX1220.34677419354839972148819748428-19748803, 19753283-19753348, 19753425-19753525, 19753912-19754328, 19754346-19754357
741SMARCB1220.9006908462867115115824129357-24129449, 24175809-24175830
742UPB1220.9792207792207824115524906745-24906755, 24906766, 24919656-24919667
743HPS4220.9919507575757617211226860060-26860066, 26860072, 26860082, 26860310-26860311, 26860317, 26860334-26860336, 26860340-26860341
744CHEK2220.977853492333939176129083906-29083916, 29083959-29083965, 29085158-29085171, 29126433, 29126445-29126448, 29130682-29130683
745NF2220.997762863534684178830057254-30057256, 30067857
746SLC5A1220.9869674185463726199532463988, 32495182-32495188, 32495194-32495201, 32495224-32495233
747TIMP3220.9874213836478863633253273-33253280
748MYH9220.993710691823937588336688098-36688125, 36690149-36690151, 36697594-36697595, 36701090-36701093
749TRIOBP220.9668920822767235709838119798-38119804, 38119829-38119862, 38119883-38119897, 38120030-38120044, 38120175-38120199, 38120297-38120303, 38120426-38120432, 38121421-38121427, 38121926-38121928, 38122039, 38122122-38122123, 38122428-38122431, 38122436-38122456, 38122462, 38129327-38129371, 38131428-38131429, 38147794-38147799, 38147822-38147835, 38153889, 38153917-38153922, 38153935, 38153941, 38161732, 38161736-38161741, 38161746-38161748
750SOX10220.88865096359743156140138369976, 38379411-38379413, 38379471, 38379538, 38379545, 38379548-38379552, 38379561-38379566, 38379654-38379791
751EP300220.95942028985507294724541523519-41523521, 41523670, 41545042, 41546092-41546097, 41546103-41546129, 41546152, 41573201, 41573747-41573753, 41573766, 41573795, 41573799-41573807, 41573818, 41573960, 41573966-41573967, 41573973-41573975, 41574075-41574108, 41574122-41574247, 41574290-41574296, 41574304-41574327, 41574336, 41574361, 41574375-41574406, 41574523-41574524, 41574527, 41574590
752TNFRSF13C220.5945945945945922555542322221-42322335, 42322642-42322707, 42322716-42322759
753CYB5R3220.976821192052982190643045301-43045321
754ATXN10220.9348739495798393142846067944-46067984, 46068002-46068040, 46068047-46068059
755TRMU220.9842022116903620126646731701-46731713, 46731724-46731730
756ALG12220.9720518064076341146750297991-50298001, 50298019-50298022, 50303550, 50303628-50303637, 50304177, 50304187-50304189, 50304207-50304208, 50307252, 50307255, 50307260, 50307276-50307281
757MLC1220.9259259259259384113450502463-50502510, 50502588-50502622, 50523202
758SCO2220.985018726591761280150962683-50962684, 50962689-50962691, 50962752-50962757, 50962764
759TYMP220.59765355417529583144950964214-50964239, 50964260-50964264, 50964271-50964317, 50964326-50964347, 50964430-50964570, 50964675-50964905, 50965028-50965072, 50965122-50965132, 50965143-50965155, 50965598-50965601, 50965641-50965650, 50968111-50968138
760ARSA220.89304461942257163152451063657-51063680, 51063751-51063849, 51063874-51063892, 51064086, 51064091-51064097, 51064426, 51064470, 51065358-51065364, 51066151-51066154
761SHANK3220.679443173150271681524451113070-51113132, 51113483-51113489, 51113507-51113533, 51113541, 51113641, 51113647, 51117524-51117531, 51117609, 51133365-51133368, 51135951-51136143, 51143177, 51144523, 51153377-51153395, 51158613-51158617, 51158623, 51158629-51158630, 51158691-51158694, 51158701-51159313, 51159356-51159359, 51159363-51159364, 51159377-51159382, 51159403-51159476, 51159497, 51159500, 51159505-51159507, 51159548, 51159602-51159641, 51159678, 51159752-51159758, 51159773, 51159923-51159933, 51160173-51160180, 51160203-51160249, 51160559-51160564, 51160568, 51160789-51160796, 51169150-51169157, 51169191-51169222, 51169245-51169246, 51169253, 51169257-51169264, 51169285-51169740
762SUMF130.99822222222222211254508899-4508900
763ITPR130.99987704414115181334730239
764CAV330.94298245614035264568787512-8787537
765FANCD230.9855072463768164441610085533-10085539, 10088305-10088346, 10091150-10091156, 10114941-10114947, 10123064
766VHL30.936137071651094164210183712-10183719, 10183808-10183840
767TSEN230.997854077253223139812544791-12544793
768TMEM4330.993349958437248120314183244-14183248, 14183269-14183270, 14183277
769XPC30.9943322706340816282314187441-14187452, 14187600-14187603
770COLQ30.9897660818713514136815497460-15497466, 15563116-15563117, 15563121-15563125
771BTD30.999387254901961163215686757
772TGFBR230.9820123664980332177930648416-30648434, 30733013-30733025
773GLB130.9631268436578275203433138503-33138577
774CRTAP30.66086235489221409120633155571-33155618, 33155628-33155921, 33155933-33155990, 33155997-33156004, 33174112
775MLH130.966974900924775227137038158, 37067128, 37067136-37067158, 37067168-37067193, 37067339-37067362
776SCN5A30.9977924944812413588938616802-38616804, 38616821-38616823, 38616918-38616920, 38648191-38648194
777ABHD530.955238095238147105043732485-43732531
778TMIE30.7625272331154710945946742860-46742941, 46742951-46742965, 46743036, 46743040-46743050
779TMIE30.974522292993631247146743036, 46743040-46743050
780TREX130.9522522522522553111048507965-48507972, 48508391-48508394, 48508446, 48508457-48508462, 48508535-48508544, 48508778-48508794, 48508799, 48508890-48508895
781COL7A130.9966044142614630883548607346-48607347, 48612917, 48625251, 48625263, 48626783-48626788, 48627065, 48627070-48627071, 48627076-48627080, 48627135-48627139, 48629673, 48629889-48629892, 48632543
782SLC25A2030.99779249448124290648929423-48929424
783LAMB230.9968501019084717539749160345, 49160348, 49160358, 49160367-49160369, 49160414, 49162554-49162557, 49162725-49162727, 49162730, 49165960, 49165963
784GNAT130.9439696106362859105350229228-50229231, 50231234-50231244, 50231253-50231258, 50231546-50231550, 50231606-50231619, 50231639-50231654, 50232331, 50232335-50232336
785HYAL130.9877675840978616130850338120, 50338495-50338508, 50339612
786RFT130.9741697416974242162653126056-53126060, 53156420-53156421, 53156427-53156440, 53157773-53157793
787TKT30.94284188034188107187253289852-53289958
788HESX130.99283154121864455857233943-57233946
789FLNB30.9969266231271624780957994372-57994378, 57994438-57994444, 58111348, 58116588-58116589, 58116606-58116611, 58134029
790PDHB30.97527108058419363-58419366, 58419393-58419411, 58419495-58419498
791ATXN730.88442565186751328283863898275-63898599, 63981348, 63982047, 63982050
792MITF30.9833653230966126156369928327, 69928410-69928433, 69928463
793PROK230.879487179487184739071834127-71834135, 71834154-71834191
794GBE130.99952584163111210981810608
795CHMP2B30.968847352024922064287294994-87295011, 87299112-87299113
796ARL13B30.9961149961155128793762082-93762084, 93769677-93769678
797CPOX30.82124542124542244136598311842, 98311919, 98311922, 98311930-98311949, 98311957-98311965, 98312044-98312088, 98312101-98312119, 98312142-98312236, 98312249-98312295, 98312318-98312323
798IQCB130.9994435169727311797121514375
799CASR30.97003398208217973237122002950-122002954, 122002966-122002969, 122003144-122003155, 122003200-122003205, 122003219-122003223, 122003304-122003307, 122003422-122003425, 122003467-122003475, 122003481-122003488, 122003502-122003508, 122003520-122003529, 122003535-122003537, 122003554, 122003599-122003602, 122003606, 122003632-122003644, 122003667
800ACAD930.998928188638821866128631449-128631450
801GP930.8483146067415781534128780842-128780860, 128780866-128780905, 128781006-128781027
802RHO30.9980897803247421047129251473-129251474
803NPHP330.946907087402962123993132406043-132406048, 132406052, 132406062-132406070, 132435649, 132440829, 132440925, 132440941, 132440944, 132441009-132441199
804PCCB30.99012345679012161620135969319-135969334
805FOXL230.419982316534046561131138664549, 138664556-138664575, 138664600-138665061, 138665069-138665075, 138665088-138665136, 138665155-138665169, 138665194-138665227, 138665336-138665387, 138665409-138665415, 138665475-138665478, 138665517-138665521
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830CC2D2A40.999794365617931486315554917
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833SGCB40.965517241379313395752904393-52904425
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838CDS140.9790764790764829138685569741-85569750, 85569760-85569778
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840PKD240.83660130718954475290788928886-88929354, 88929405, 88929469-88929470, 88957432, 88957435, 88983127
841MTTP40.9951582867784132685100515950, 100529982-100529993
842MANBA40.99128787878788232640103681932, 103681974-103681980, 103681998-103682005, 103682019-103682025
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844TACR340.98497854077253211398104512693-104512702, 104640740-104640749, 104640783
845CFI40.9971461187214651752110673633, 110673640, 110723087, 110723095-110723096
846PITX240.990769230769239975111539762, 111539766-111539769, 111542421-111542424
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857SLC6A1950.980577427821523719051201853-1201859, 1201910-1201913, 1208945, 1208950, 1208991-1209001, 1213578-1213590
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859SLC6A350.967257112184656118631414806-1414832, 1414851-1414873, 1422107, 1422118-1422121, 1443137-1443140, 1443243-1443244
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861NDUFS650.9813333333333373751801553-1801559
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863CCT550.9889298892988918162610256134-10256136, 10261828-10261842
864DNAH550.984432432432432161387513766110-13766112, 13810188-13810227, 13810300-13810346, 13829643, 13829659-13829660, 13830830-13830840, 13830879-13830884, 13862735-13862744, 13868100-13868101, 13883075, 13894806-13894808, 13916457-13916495, 13916520-13916553, 13919303-13919319
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866FAM134B50.82663989290495259149416475106, 16475111, 16616779-16616852, 16616868-16616913, 16616936-16616940, 16616949-16617080
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876AP3B150.9893455098934635328577311240, 77334914, 77458695-77458703, 77458712-77458718, 77523255-77523261, 77563377-77563386
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881PCSK150.999115826702032226295733076, 95743999
882WDR3650.9971988795518282856110436340-110436342, 110438081-110438082, 110448773-110448774, 110448843
883HSD17B450.9990954319312522211118809626-118809627
884LMNB150.935831913685411131761126113241-126113271, 126113322, 126113325, 126113351-126113358, 126113372, 126113379-126113382, 126113422-126113451, 126113457-126113490, 126141301-126141303
885FBN250.987756036159741078739127614472, 127614502-127614509, 127645004-127645005, 127645687-127645693, 127873043-127873078, 127873107-127873113, 127873123-127873168
886SLC22A550.938470728793311031674131705666-131705695, 131705801-131705848, 131705884-131705894, 131705945-131705953, 131726459, 131726472-131726475
887TGFBI50.98781676413255252052135364745-135364747, 135364808-135364826, 135364877-135364878, 135394849
888MYOT50.9953239812959371497137222939-137222945
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890MATR350.99095911949686232544138651821, 138651829, 138658497-138658515, 138658538-138658539
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892POU4F350.95378564405113471017145718785, 145719121-145719123, 145719149-145719163, 145719289-145719308, 145719391, 145719487-145719488, 145719510, 145719517, 145719753, 145719822-145719823
893PPP2R2B50.9542042042042611332146077598-146077620, 146077638-146077674, 146077691
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895SH3TC250.9997414016033113867148406646
896PDE6A50.9965156794425192583149240496-149240500, 149240507-149240509, 149247672
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898TCOF150.98875114784206494356149737368-149737370, 149737386, 149737390, 149737393, 149737397-149737398, 149754520-149754526, 149754976, 149754982, 149755100-149755108, 149755453, 149756107-149756113, 149759146, 149771614-149771626, 149772340
899SGCD50.993103448275866870156022003-156022004, 156186382-156186385
900ITK50.9962426194310371863156644912-156644917, 156679651
901NIPAL450.98643825838687191401156887220-156887238
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903MSX250.86318407960199110804174151736-174151792, 174151801-174151804, 174151866-174151907, 174151923-174151929
904NSD150.99864046471388118091176675268, 176721194-176721202, 176721241
905F1250.919243986254347582176830278-176830324
906F1250.97132034632035531848176830278-176830324, 176830968-176830973
907PROP150.997063142437592681177422839, 177422845
908GRM650.790812452543665512634178413683-178413689, 178415959-178415986, 178416002-178416028, 178416060-178416063, 178416084-178416099, 178421455-178421479, 178421502-178421945
909SQSTM150.881330309901741571323179247937-179247956, 179247979-179247990, 179248009-179248129, 179248138-179248141
910FLT450.919599217986313294092180038336-180038347, 180038360-180038408, 180038457-180038479, 180045822, 180045899-180045917, 180046027-180046028, 180046050-180046093, 180046255-180046261, 180046339, 180046342, 180046344, 180046347, 180046713-180046727, 180046746-180046769, 180047952-180047969, 180048148-180048170, 180051040-180051055, 180055912-180055913, 180056794, 180056798-180056799, 180056813, 180057023-180057029, 180057641, 180076488-180076545
911FOXC160.3604091456077106316621610726, 1610759-1610761, 1610765-1610769, 1610777, 1610785, 1610792, 1610824-1610907, 1610913-1610922, 1611009-1611049, 1611070-1611117, 1611180-1611224, 1611236, 1611267-1611271, 1611288-1612097, 1612158-1612164
912TUBB2B60.8333333333333322313383225110-3225130, 3225156-3225160, 3225184-3225222, 3225233-3225246, 3225388-3225416, 3225438-3225444, 3225454-3225499, 3225518-3225525, 3225569-3225575, 3227721-3227767
913DSP60.995705663881153786167542175, 7542237-7542243, 7542293-7542300, 7555976-7555977, 7568126-7568139, 7585222-7585223, 7585546-7585548
914TFAP2A60.9680365296803742131410398775, 10398779-10398780, 10398784, 10398787, 10398808-10398811, 10398819-10398826, 10398831, 10398837, 10398846, 10398851, 10404750-10404759, 10404848, 10410338-10410347
915GCM260.997370151216314152110877420, 10877426-10877427, 10877431
916DTNBP160.937566105615533471-15533477, 15533498-15533502, 15533513-15533518, 15533525-15533528, 15627620, 15627623-15627624, 15663060-15663100
917ATXN160.90686274509804228244816327355-16327390, 16327410-16327427, 16327482, 16327487-16327495, 16327503-16327506, 16327524, 16327527, 16327585-16327619, 16327808-16327825, 16327861-16327960, 16328020-16328024
918NHLRC160.9806397306397323118818122399, 18122402-18122403, 18122408, 18122419-18122420, 18122448-18122451, 18122671-18122674, 18122826, 18122830-18122837
919ALDH5A160.87128111718276212164724495261-24495267, 24495334-24495444, 24495450-24495498, 24495511-24495555
920ZFP5760.999379267535691161129641449
921HLA-H60.918666666666676175029855800-29855802, 29855805, 29855846, 29855849-29855853, 29855856-29855861, 29855996-29856001, 29856368-29856376, 29856397, 29856406, 29856425-29856427, 29856439-29856445, 29856516, 29856531-29856539, 29856546-29856553
922CFB60.999736911339121380131911545
923TNXB60.917055469155160192931976913-31976929, 31977388-31977394, 31977535-31977541, 31977994-31978001, 31978498-31978517, 31979444-31979482, 31979519-31979552, 31979628-31979631, 31979980-31980003
924CYP21A260.9133064516129129148832006200-32006234, 32006249-32006251, 32006314-32006341, 32006921, 32006988, 32008195-32008201, 32008448-32008454, 32008690-32008736
925TNXB60.98860868882081451272932009648-32009664, 32010123-32010129, 32010728-32010735, 32011079, 32011235, 32012292-32012336, 32012373-32012379, 32025885, 32029203-32029206, 32032627, 32063744, 32063958, 32063962, 32064139-32064142, 32064200, 32064307, 32064388-32064394, 32064508-32064512, 32064517-32064528, 32064535, 32064658-32064673, 32064678-32064680
926HLA-DQA160.885416666666678876832609126, 32609133-32609134, 32609192, 32609195, 32609309-32609335, 32609806, 32609870-32609877, 32609949-32609972, 32609999-32610013, 32610436, 32610492-32610498
927HLA-DQB160.3218829516539453378632629133-32629161, 32629170, 32629173, 32629187-32629193, 32629757-32629791, 32629799-32629833, 32629839-32629879, 32629885-32629889, 32629891-32629900, 32629932-32629959, 32632575-32632837, 32634276-32634353
928COL11A260.97505277298023130521133133434, 33135299-33135301, 33138128-33138130, 33138135-33138140, 33139320-33139323, 33139328-33139331, 33140066-33140073, 33140124-33140155, 33140315-33140382, 33159979
929SYNGAP160.88492063492063464403233388042-33388108, 33393575-33393680, 33400007-33400008, 33400011-33400013, 33405614, 33405617, 33409107-33409114, 33409488, 33410916-33410921, 33410969-33410987, 33411174-33411184, 33411439-33411677
930FANCE60.90378646803228155161135420323-35420431, 35420467-35420472, 35420486-35420522, 35423799-35423800, 35425365
931TULP160.999386126457951162935473874
932MOCS160.996860282574576191139874348-39874349, 39874734, 39874737, 39877661-39877662
933PRPH260.994236311239196104142672171, 42672179-42672183
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935CUL760.9929370217775236509743006422-43006430, 43008319-43008327, 43008357-43008370, 43008427-43008428, 43008432, 43016154
936RSPH960.945848375451264583143613016-43613060
937RUNX260.85887611749681221156645390330-45390545, 45390653, 45514859-45514862
938MUT60.9933422103861515225349403279-49403285, 49412418, 49412422, 49412426-49412427, 49412436, 49419179-49419181
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972KLHL770.999432140829071176123213673
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974HOXA170.999007936507941100827135403
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978RP970.7702702702702715366633134998, 33148833-33148984
979BBS970.99849849849854266433185965, 33397511, 33545139-33545140
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987ASL70.9698924731182842139565551628, 65551764-65551765, 65553882-65553883, 65554126-65554162
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989SBDS70.99070385126162775366456158-66456164
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991ELN70.94804597701149113217573442530-73442596, 73466262-73466307
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999KRIT170.9941203075531413221191852182-91852194
1000PEX170.999740394600211385292140312
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1002SGCE70.9896755162241914135694259031-94259044
1003SLC25A1370.9768586903003447203195750995-95750996, 95751294-95751300, 95751307-95751309, 95799357-95799360, 95799364-95799368, 95800784-95800793, 95800818-95800820, 95813606, 95813746, 95820434-95820440, 95951255-95951258
1004TFR270.9667497921862802406100218641, 100218648-100218659, 100224954-100224958, 100225008, 100225012-100225020, 100225383, 100229705-100229706, 100230676-100230711, 100238642-100238646, 100238654-100238661
1005SERPINE170.98180314309347221209100771812-100771828, 100771833-100771837
1006RELN70.993543413317916710377103136277, 103236970-103236976, 103244867-103244907, 103629725-103629742
1007SLC26A470.98548868971404342343107302106-107302111, 107302192, 107314721, 107314731-107314734, 107314738, 107315454, 107323647-107323666
1008SLC26A370.9991285403050122295107430063, 107432380
1009IFRD170.92920353982301961356112090790-112090802, 112090809-112090810, 112090817-112090822, 112101968-112101971, 112102134-112102163, 112102184-112102224
1010CFTR70.97996848975917894443117144338, 117144361-117144363, 117188716-117188722, 117188733-117188766, 117188794-117188800, 117188847-117188877, 117232276, 117235044-117235047, 117251718
1011AASS70.98741459906508352781121732932-121732964, 121732966, 121753676
1012IMPDH170.881666666666672131800128045833-128045873, 128045886-128045919, 128049818-128049955
1013FLNC70.983614575690881348178128470692-128470699, 128470708-128470763, 128470845-128470850, 128470909-128470919, 128477278-128477311, 128477456-128477465, 128482421, 128482853-128482854, 128486045-128486048, 128490438-128490439
1014ATP6V0A470.98969480776853262523138437531-138437556
1015BRAF70.98783137766189282301140624400-140624427
1016PRSS170.9663978494623725744142458434-142458454, 142459832, 142459839-142459841
1017CLCN170.98786653185035362967143042688-143042702, 143047472-143047492
1018CNTNAP270.99449449449449223996145813980-145813991, 145813997, 145814040, 145814062, 146997234-146997237, 147914396-147914398
1019KCNH270.7037356321839110313480150644036-150644046, 150644090-150644109, 150644416-150644431, 150644444-150644482, 150644533-150644582, 150644591-150644602, 150644710-150644787, 150644798-150644831, 150644841-150644850, 150644864, 150644870-150644883, 150645588-150645591, 150646028-150646033, 150646099, 150648683-150648709, 150648713-150648717, 150648720-150648731, 150648780-150648789, 150648818-150648821, 150648827, 150648835-150648846, 150648871-150648875, 150648881-150648883, 150648887-150648888, 150648892, 150649715-150649723, 150654542-150654544, 150655150-150655175, 150655209-150655553, 150671799, 150671812, 150671838-150672029, 150674926-150675001
1020PRKAG270.95906432748538701710151329155-151329224
1021SHH70.624190064794825221389155595594-155596055, 155596087-155596090, 155596097-155596140, 155596197-155596208
1022MNX170.36981757877287601206156798214-156798277, 156798288-156798417, 156798425-156798473, 156798486-156798490, 156798552-156798567, 156799265-156799278, 156802452-156802458, 156802506, 156802511-156802525, 156802535-156802547, 156802567-156802571, 156802582-156803022
1023CLN880.9941927990708558611719517, 1728706-1728709
1024MCPH180.98046251993624925086264189-6264210, 6299630-6299636, 6478982-6479000, 6479067
1025GATA480.5974416854778535132911565822-11565828, 11565840-11565923, 11565987-11566365, 11566387-11566395, 11566403-11566422, 11614466-11614496, 11614525, 11614543-11614546
1026TUSC380.9436485195797559104715397971-15398008, 15398023-15398043
1027ASAH180.9890572390572413118817941518-17941530
1028SFTPC80.929292929292934259422021047-22021059, 22021417-22021438, 22021486, 22021497-22021502
1029NEFL80.89276960784314175163224813140-24813143, 24813156-24813161, 24813404-24813436, 24813482-24813504, 24813583-24813617, 24813641-24813670, 24813688-24813703, 24813914-24813941
1030CHRNA280.9918238993710713159027320607, 27320623, 27320838-27320839, 27320851, 27320861-27320865, 27320911, 27321487, 27327422
1031FGFR180.9951278928136412246338273510-38273520, 38287406
1032ANK180.96961714085002173569441530249-41530261, 41530266, 41554002, 41554007-41554008, 41554014, 41561988, 41581084-41581107, 41583450-41583453, 41753873-41753998
1033HGSNAT80.93815513626834118190842995640-42995757
1034RP180.9979910369340113647155533940, 55540181, 55541792-55541802
1035CHD780.98810317989771107899461654424-61654426, 61654481-61654518, 61654559, 61654597-61654604, 61654696, 61654699, 61654706, 61654720, 61654725-61654726, 61654737-61654740, 61654827-61654843, 61655555, 61713080-61713084, 61734381, 61777849-61777853, 61777952-61777954, 61778176, 61778228-61778234, 61778264-61778267, 61778277, 61778281, 61778293
1036TTPA80.792114695340517483763973971, 63998408-63998580
1037CYP7B180.9480604865220379152165711052-65711109, 65711117-65711137
1038EYA180.976953344575641177972211324-72211364
1039TMEM7080.942528735632184578374888517-74888561
1040CA280.956577266922093478386376311-86376344
1041NBN80.999558498896251226590967515
1042TMEM6780.9899598393574330298894777673-94777696, 94777858, 94777861, 94777867-94777869, 94777874
1043GDF680.6140350877193528136897156996, 97157141-97157176, 97157194-97157336, 97157342-97157400, 97157407-97157572, 97157632-97157667, 97157684, 97172758, 97172779-97172784, 97172791-97172798, 97172803-97172809, 97172817-97172828, 97172869-97172920
1044VPS13B80.997248624312163311994100108627-100108628, 100168919-100168920, 100587942-100587943, 100733103, 100874106-100874110, 100874115, 100874121-100874136, 100880612-100880613, 100883733-100883734
1045RRM2B80.9981060606060621056103231056-103231057
1046DPYS80.84743589743592381560105478885, 105478903-105479122, 105479128-105479144
1047TRPS180.9971685971686113885116599285-116599286, 116599383, 116599386, 116599794-116599800
1048EXT180.9995537706381112241118842551
1049TNFRSF11B80.9933665008291981206119964032, 119964037-119964043
1050KIAA019680.9979885057471373480126091166-126091172
1051KCNQ380.924780450553651972619133492400-133492406, 133492535-133492536, 133492550-133492623, 133492633-133492680, 133492714-133492779
1052TG80.99843505477308138307133882017-133882020, 133883788-133883790, 134031847, 134034272, 134034323-134034326
1053NDRG180.96877637130802371185134251278-134251283, 134274290-134274320
1054SLURP180.993589743589742312143822685-143822686
1055CYP11B180.98346560846561251512143956415-143956421, 143956533-143956542, 143957225, 143958596-143958602
1056CYP11B280.914021164021161301512143993946-143993999, 143994026-143994032, 143994060-143994081, 143994223, 143994242-143994282, 143994701-143994705
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1061VLDLR90.977116704805496026222622211-2622261, 2643385-2643388, 2651919-2651920, 2652880, 2652940-2652941
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1067TYRP190.999380421313511161412694219
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1071APTX90.995140913508265102932973553-32973556, 32973559
1072B4GALT190.9573934837092751119733166890-33166893, 33166897, 33166902-33166919, 33167103-33167126, 33167137-33167140
1073DNAI190.999523809523811210034500765
1074GALT90.993859649122817114034646705, 34646759-34646764
1075VCP90.998760842627013242135072348-35072350
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1078GNE90.999115826702032226236217456, 36223384
1079GRHPR90.99594731509625498737424876-37424878, 37424882
1080FXN90.82622432859411063371650709-71650711, 71650731-71650759, 71650780-71650795, 71650803-71650863, 71668117
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1083AUH90.9813725490196119102093983165-93983166, 94124155-94124171
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1085FBP190.9921337266478101797401565-97401572
1086PTCH190.93186003683241296434498209550-98209551, 98209610, 98209621-98209639, 98211381-98211383, 98211415-98211426, 98211431-98211434, 98211492, 98231208, 98239918-98239922, 98268689-98268765, 98268771-98268791, 98268843, 98268848-98268854, 98268880-98268881, 98270443-98270466, 98270468-98270471, 98270476, 98270504-98270539, 98270550-98270563, 98270583-98270643
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1088TGFBR190.93584656084656971512101867488-101867584
1089INVS90.99687304565353103198102866881-102866882, 102866889-102866891, 102866903, 103046727-103046729, 103055301
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1091FKTN90.999278499278511386108363430
1092IKBKAP90.9997499374843713999111668678
1093DFNB3190.89317180616742912724117168990, 117186739-117186747, 117228615-117228621, 117240869-117240875, 117240879-117240885, 117240937-117240957, 117266700-117266705, 117266811-117266827, 117266846-117267015, 117267026-117267041, 117267052-117267081
1094TRIM3290.9969418960244661962119460035-119460036, 119460061, 119460064, 119460118, 119460400
1095CDK5RAP290.99665610700458195682123171419-123171433, 123199722, 123201832-123201834
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1101GLE190.98283261802575362097131267100-131267106, 131267142-131267169, 131286044
1102DOLK90.97402597402597421617131709004-131709011, 131709029-131709030, 131709383-131709388, 131709478-131709503
1103TOR1A90.88688688688689113999132586187-132586241, 132586263-132586300, 132586323-132586327, 132586332-132586334, 132586338-132586346, 132586352-132586354
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1105SETX90.9932785660941548034135139867-135139918, 135173577-135173578
1106TTF190.99595290654893112718135251355, 135263555-135263563, 135273617
1107TSC190.98798283261803423495135771997-135772002, 135772051-135772054, 135772660-135772661, 135772843-135772848, 135772856-135772878, 135779108
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1109SURF190.9102990033222681903136223124-136223143, 136223165-136223171, 136223276-136223329
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1117AGPAT290.7741935483871189837139568220, 139571069-139571079, 139571511-139571515, 139571540-139571546, 139571570-139571573, 139581649-139581809
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1120SHOXX0.88168373151308104879595497-595507, 595515-595524, 595551, 605157-605181, 605265-605309, 605315-605326
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1155L1CAMX0.9984101748807663774153130596-153130601
1156MECP2X0.95457581830327681497153296209-153296214, 153363061-153363122
1157OPN1LWX0.98721461187215141095153409823-153409828, 153420069-153420075, 153424300
1158OPN1MWX0.95707762557078471095153448187-153448226, 153457199-153457205
1159OPN1MWX0.95616438356164481095153485305-153485344, 153494317-153494323, 153498548
1160FLNAX0.98879657603223897944153592405-153592411, 153592416-153592417, 153592421, 153599241-153599260, 153599294-153599303, 153599549-153599597
1161EMDX0.997385620915032765153607881-153607882
1162G6PDX0.996947496947551638153775071-153775075
1163IKBKGX0.98633879781421201464153788624-153788636, 153788705-153788711
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5BRCA1-Q356Rhet unknown0.023Dominant
pathogenic
Moderate clinical importance,
likely
This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk).
4APOA5-S19Whomozygous0.039Unknown
pathogenic
Low clinical importance,
likely
This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.
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-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5CETP-A390Phet unknown0.015Unknown
pathogenic
Low clinical importance,
likely
This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).
2.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5RNASEL-R462Qhomozygous0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
2.5COL4A1-Q1334Hhomozygous0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2MTRR-I49Mhomozygous0.313Recessive
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.
2MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
2CILP-G1166Shet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2CILP-I395Thomozygous0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1.375SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1.375SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SYNE1-E6786Shifthet unknownRecessive
pathogenic
Moderate clinical importance,
uncertain
This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position -- the few reports of causal downstream variants lack statistical significance. This protein is very large, it's possible that truncating variants this far along in the product do not have as severe an effect.
1.375SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1.375SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1.375SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.375CFTR-V470Mhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375CFTR-G576Ahet unknownRecessive
pathogenic
High clinical importance,
likely
Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.
1.375CFTR-R668Chet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1GPC3-V429MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SRRM3-R579ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
1FUT2-W154*homozygous0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1FUT2-G258Shomozygous0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
1POLN-Q121Hhomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
1ATP7A-V767Lhomozygous0.332Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GLA-R252ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TTN-R30395Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V28135Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E26518Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R21422Hhet unknownUnknown
not reviewed
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-V19783Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A14593Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NM_001161833-M27ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NM_001161833-T58AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NM_001161833-A174ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF148-*795ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LAMP2-I252ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DSG2-I293Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
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.
1HTRA2-E165Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SLCO1B1-N130Dhomozygous0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLCO1B1-V174Ahet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1VPS11-L73ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VPS11-K887RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PROZ-R295Hhomozygous0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
1HTR2C-C23Shomozygous0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NM_001145710-Q302ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C20orf54-P267LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL6A2-A68VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX1-F101Chomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1SH2B3-W262Rhomozygous0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SLC30A8-R325Whomozygous0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf184-G95Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1MYO3A-R319Hhomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-V369Ihomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-A833Shomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
1MYO3A-S956Nhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1MYO3A-T1284Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1MYO3A-R1313Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1OPN1LW-I230Thomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1OPN1LW-A233Shomozygous0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-M236Vhomozygous0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1RPGR-VEGE1025Delhomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RPGR-A781Thomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1SEPN1-C108Yhet unknown0.789Unknown
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
1SKA3-D335Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1NR_027242-N339Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-N339Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CNGB3-I307Vhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
1CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNGB3-L150Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1AURKA-I57Vhet unknown0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C14orf104-D768GhomozygousUnknown
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
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GABRE-P437Lhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1GABRE-S102Ahomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
1CYP2C9-I359Lhet unknown0.016Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-A383Thet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.75NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.625BRCA2-N372Hhet unknown0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.625BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-R103Khet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-S494Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HIST1H4B-K9Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HIST1H4B-S2Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-DQB1-S229Nhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A11Thet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y48Fhet unknown0.116Unknown
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
0.5BTNL2-G454Chet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5BTNL2-P393Qhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5BTNL2-M380Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.225 (possibly damaging)
0.5BTNL2-P379Lhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BTNL2-D336Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.583 (possibly damaging)
0.5BTNL2-T165Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
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-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-G982Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR55-C151Rhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5WDR55-S210Fhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5WDR55-Y235Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PDE6A-Q492Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN2-M2311Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
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
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5SQSTM1-V240Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLT4-R1146Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLT4-N149Dhet unknown0.023Unknown
benign
Low clinical importance,
likely
Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.
0.5NUP153-D975Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUP153-A827Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP153-N402Khomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUP153-I248Vhomozygous0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-N523Dhomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-P521Qhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-D483Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GMCL1L-R440Chet unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-N393Shomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-R378Hhet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GMCL1L-S40Ghet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC36A3-K167Ehet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC36A3-G83Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MRPL22-G154Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5KIF4B-R580Lhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF4B-Q981Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-L461Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5BCLAF1-Y459Dhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCLAF1-R45Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL11A2-G461Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-G297Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MBOAT4-L402Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MBOAT4-T46Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-T151Ihet unknown0.089Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging)
0.5LRRCC1-H69Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NBN-E185Qhomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS1-A148Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLGAP2-P205Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GIMAP2-V74Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5GIMAP2-H161Rhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRHL2-K9Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B3-L256Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEMGN-T108Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALG2-V367Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG2-S11Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13A-E198Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EXOSC3-Y225Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5GPT-H14Nhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DENND4C-I5Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5KIF24-S837Fhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5KIF24-R109Ghet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5TOPORS-H881Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLNC-R1241Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1009-E38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RARS2-V235Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARMC2-T546Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5WISP3-P44Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WISP3-P49Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WISP3-Q74Hhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LMBRD1-D469Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A809Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CAPN11-I145Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CAPN11-V266Mhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CAPN11-S728Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-G2285Ehet unknownUnknown
benign
Low clinical importance,
uncertain
Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a severe pathogenic effect.
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYS-S2556Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1873Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1748Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-S1517Ghet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-R1515Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1451Thet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1361Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1263Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E1199Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q571Rhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EFHC1-M448Thet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.5EFHC1-I619Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5FAM26F-E293Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
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
0.5AKAP9-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
0.5AKAP9-N2792Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GATAD1-R233Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PON1-L55Mhomozygous0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-S400Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB4-T175Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK125766-R117Hhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-V114Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK125766-R20*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAH11-V1023Ahet unknown0.193Unknown
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-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E3752Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5WDR1-V591Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR1-I185Vhomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GFM2-R744Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GFM2-FE609Delhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Q2620Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNPEP-K260Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5LAX1-P396Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LAMB3-A926Dhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMB3-N690Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMB3-V527Mhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMB3-N181Dhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.842 (possibly damaging), 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-E175Qhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B2-K549Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5RHBG-G76Dhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4A-R651Khomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4A-N740Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HMCN1-I5255Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-V230Mhet unknown0.008Recessive
benign
Low clinical importance,
uncertain
This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).
0.5USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAB3GAP2-S1092Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
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-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH6-V141Mhet unknown0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-V2898Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-G741Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRSS38-A123Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRSS38-M204Vhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-S103Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.262Complex/Other
protective
Low clinical importance,
uncertain
This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption.
0.5APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-E4181Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-H1923Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-A618Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746649-W43*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FLG-R3738Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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-E2652Dhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), 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-K2444Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-D2339Nhet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-R1891Qhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G1783Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-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-T454Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.075 (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
0.5ZNF687-G259Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G636Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5FAM46B-H416Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5DCDC2B-Q271*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GJB4-V52Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5PPT1-I134Thet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UBXN10-M1Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NPHP4-P1160Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.439 (possibly damaging), Testable gene in GeneTests
0.5NPHP4-E618Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF207-R539Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5RNF207-N573Shomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5PLEKHG5-G866Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEKHG5-M496Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5PLEKHG5-T294Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-W38Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghet unknown0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5ZNF643-R197Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF643-E209*het unknownUnknown
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)
0.5GBP3-N572Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBP3-C491Rhomozygous0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GBP3-V469Mhomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chet unknown0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEPR-K109Rhomozygous0.332Unknown
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
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZMYND12-I357Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZMYND12-F316Lhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC30-N6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC30-H772Nhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5LEPRE1-M549Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5LEPRE1-G349Rhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-V185Fhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.472 (possibly damaging)
0.5CYP4A22-C231Rhomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5ZAP70-I342Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5573Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R880Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-C360Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGRN-E728Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CC2D2A-K507Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM194A-R549Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM194A-L426Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5KIAA2018-V2200Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA2018-S1818Ghet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5KIAA2018-P222Ahet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPBAP1-P456PShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPBAP1-L243Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5NPHP3-R397Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABTB1-V132Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABTB1-R306*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PROM1-S19Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CWH43-P2Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CWH43-K696Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T4220Ahet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), 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
0.5FAM105A-C295Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IL7R-I66Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TERT-A1062Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENAM-S1107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPRIN3-V446Ahet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN3-P390Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPRIN3-L39Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPE-R1597Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC9A10-V1058Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-G826Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5SLC9A10-S768Ihet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.735 (possibly damaging)
0.5SLC9A10-Q732Khomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-T424Ahet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5SLC9A10-I364Vhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I286Vhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I158Vhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR5H14-G64Rhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5OR5H14-C179Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCA12-S777Thomozygous1.000Unknown
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-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G545Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ALS2-P372Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RFTN2-N198Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N2632Dhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5LRP2-G669Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGA6-A380Thomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TRPM8-R247Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL7A1-P595Lhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5QARS-N285Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BSN-P1211Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5BSN-A3863Thet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.235 (possibly damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA2D2-R75Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5TGM4-N110Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ULK4-R862*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ULK4-S640Ahomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-A542Thomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-I224Vhomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK4-K39Rhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5COL6A3-T3069Ihomozygous0.364Unknown
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
0.5ANO7-D70Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5ANO7-A494Vhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HACL1-I151Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-V825Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEG3-L1390*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R265Ghet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL28-H27Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5POLG-E1143Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IREB2-V159Lhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IREB2-K233Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IREB2-I580Thomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1024-N258Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF544-R615*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ACSM5-R65Qhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM5-E182Khet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM5-M217Vhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACSM5-L282Fhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ACSM5-P352Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RPGRIP1L-T1143Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CES1-N132Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CES1-S12Ahet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-I7Vhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-F6Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-R4Phet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.5CR600589-S477Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AARS-K820Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CORO1A-G16Shifthet 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-Y150Chet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SHANK1-G1896Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYP1A1-R464Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R423*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5FANCM-I208Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5TRIP10-E399Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-H2562Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1622Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1155Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
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
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-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.
0.5RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC7A7-G101Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSMB5-R24Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
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-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (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-P4733Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPX2-Y124*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF335-D865Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5ZNF335-P655Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5ZNF335-S294Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZFYVE26-N1891Shet unknown0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-P1103Lhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests
0.5DCAF4-K193Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5DCAF4-S325Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging)
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5JPH3-S209Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF469-R366Shomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.133 (benign)
0.5ZNF469-K1162Ehomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5ZNF469-P1420Lhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF469-R2582Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF469-D2749Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.793 (possibly damaging)
0.5ZNF469-H2848Rhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF469-T3636Ahomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RNF157-G208Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT9-P145Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5UNC13A-L1121Phomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF486-Y210*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COG1-N392Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-R571Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCDH-A316Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF750-P288Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF750-M235Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ABCA7-E188Ghet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.5ABCA7-T319Ahet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA7-H395Rhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ABCA7-R463Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5ABCA7-F1390Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ABCA7-G1527Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA7-Q1686Rhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ZNF77-Q100*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PNPLA6-P447Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLIN5-R306Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLIN5-C255Rhet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5ADNP2-T86Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.615 (possibly damaging)
0.5ADNP2-G986Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-T134Shet unknown0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBX4-A35Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5TMEM95-A103Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5ANKFY1-K11Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASPA-I170Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-T177Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5SCO1-H114Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH2-P91Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5NM_014727-L1882Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_014727-D2361Ghet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPT4-E311Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADORA2B-M219Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WDR62-L850Shomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-G1375Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT9-S366Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-R56Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CABLES2-V381Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5SLC19A1-H27Rhomozygous0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2155Whomozygous0.022Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5CD6-P105Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-R225Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5CD6-A257Vhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-A271Thet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-T539Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SPRYD5-I129Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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
0.5PEX16-V103Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MADD-S935Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-P812Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC7-L77Shifthet unknownUnknown
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-L438Vhomozygous0.344Unknown
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
0.5HIC2-P362Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BAIAP2L2-IAPSEYWDGQSRSR441Delhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BAIAP2L2-M411MTPMhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5BAIAP2L2-M411MTPMhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5ALX4-R35Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ARSA-R496Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-N350Shet unknown0.241Unknown
benign
Low clinical importance,
well-established
This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
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
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASMTL-*622Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASMTL-G434Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASMTL-Y364Hhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ASMTL-S228Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GRID1-V529Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5GRID1-M430Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5PDE6C-S270Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL17A1-M703Vhomozygous0.672Unknown
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
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCF-Q211Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-L243Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), 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
0.5MUC5AC-V497Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC5AC-A2718Thomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC5AC-T4230Mhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC5AC-W5682*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMBT1-P42Thet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-H1084Yhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCDH15-D440Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (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
0.5PTCHD3-*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
0.5DFNB31-N796Khet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-A440Thet unknown0.197Unknown
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
0.5KRTAP19-3-G54Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUPL1-A34Thomozygous0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-T234Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CENPJ-S879Ahet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5POMT1-A619Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIWIL1-G80Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KCNRG-Y101Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FARP1-H644Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MUSK-N664Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.44 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DOCK9-R18Whet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UGGT2-H1381Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UGGT2-M994Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5UGGT2-A821Thet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5UGGT2-S328Ahomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UGGT2-A323Thet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLN5-R2Chet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-N242Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYT1-E273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEK3-Q293Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DIAPH3-P588Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL9A3-P296Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SETX-S2612Ghet unknown0.173Unknown
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
0.5MMAB-M239Khomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL18A1-V144Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5DENND5B-H336Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5SCNN1A-T722Ahet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCNN1A-P37Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD52-Y415*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-V276Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F215Ihet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP10-10-E28Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP10-10-V158Mhomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.14 (benign)
0.5CELP-K177Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-Q180*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CELP-L184Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF5A-P986Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TMPRSS3-I253Vhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMPRSS3-V53Ihet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
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
0.5LRRK2-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
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-E142Dhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CACNA1S-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
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-N46Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-E38Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSEN15-G19Dhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.25TSEN15-Q59Hhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.25TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR5-F616Lhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25TLR5-N592Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PMS2-K541Ehet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNXB-N4055Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-G2518Ehet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-G488Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25DNAI1-V335Ihet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25PEX2-C184Rhet unknown0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EPHX2-R287Qhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-S241Rhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC35C1-I227Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25XYLT2-R305Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XYLT2-T801Rhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25TNFRSF13B-P251Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25DSC3-R102Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FRZB-R324Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-D91Nhet unknown0.008Recessive
benign
Low clinical importance,
uncertain
This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C4orf21-E1512*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C4orf21-N410ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0MPO-Y173Chet unknownRecessive
pathogenic
Low clinical importance,
uncertain
This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,772,140,101 bases (97.0% of callable positions, 90.0% of total positions)

Coding region coverage: 31,689,318 bases (95.2% of all genes, 96.5% 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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