hu9385BA - GET-Evidence variant report

Variant report for hu9385BA

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PKD1-R4276WHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.00200401Reported to cause autosomal dominant polycystic kidney disease, but it has been seen in a confirmed-healthy PGP participant and one other presumed-healthy control genome (overall frequency in randomly chosen controls is 1.7%).1
2PMP22-Y136SHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000185908Unreported, predicted to be damaging. Other recessive mutations in this gene reported to cause Charcot-Marie-Tooth disease or Dejerine-Sottas disease.1
3CBS-T460MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0078125Unpublished data suggests this variant causes homocystinuria in a recessive manner, and Polyphen 2 predicts a damaging effect. Without more data we are unable to determine if the unpublished report had any statistical significance supporting it.1
4SERPINA1-R247CHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00260271Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease.1
5ACADVL-R385WHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0078125Predicted to be damaging. Other recessive mutations in this gene cause Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency, and this variant is mentioned in an online database linking it to this disease.1
6SLX4-G1396ShiftHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00862069Unreported, predicted to be damaging. Other severe recessive mutations in this gene reported to cause Fanconi anemia.1
7SLC7A9-A182TModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00325339Reported to cause cystinuria when homozygous, may also have symptoms when heterozygous. Although authors reporting the variant as confidently causal and it has some supporting functional evidence, we are unable to establish that the variant has statistical significance for this association.1
8TGM1-E520GModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00641502This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.1
9MATN3-T303MModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0106698An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.1
10SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
11COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
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
12PIGR-A580VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.247537In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.1
13NOD2-R702WLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0334821NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups.1
14KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
15MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
16rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
17FANCG-R513QLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00715746Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.1
18ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
19RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
20ATM-D814ELowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.00623024May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown.1
21SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
22DYX1C1-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
23WFS1-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
24TP53-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
25CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Homozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
26ADRB2-T164ILowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.0109686This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.1
27rs1544410LowUncertainUncertain 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
28FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
29CFH-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
30NPC1-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
31KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
32DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
33COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
34PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
35EFHC1-R182HLowLikelyLikely benign

Unknown, Heterozygous
0.0439673Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism.1
36OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
37FLT4-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
38MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
39RPGRIP1-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
40COG1-T350MLowUncertainUncertain benign

Unknown, Heterozygous
0.00650678Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe).1
41LPIN2-L504FLowUncertainUncertain benign

Unknown, Heterozygous
0.00316279Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis.1
42APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
43WDR36-H212PLowUncertainUncertain benign

Unknown, Heterozygous
0.000465809Probably benign.1
44KCNQ3-R777QLowUncertainUncertain benign

Unknown, Heterozygous
9.2954e-05Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype.1
45COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
46POLG-Y831CLowUncertainUncertain benign

Unknown, Heterozygous
0.00799405A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127).1
47TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
48SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
49ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
50PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
51TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
52TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
53RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
54PHYH-P29SLowUncertainUncertain benign

Unknown, Homozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
55TYR-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
56NSD1-A2546TLowUncertainUncertain benign

Unknown, Heterozygous
0.0254001Benign, reported as a polymorphism.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31904631 / 33282720 = 95.86%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.7748452264581313826138955553-955753, 957646-957648, 957654, 957662, 957665-957670, 976056-976062, 976079-976132, 976153-976177, 976198-976260, 976553-976699, 976706-976741, 976772-976777, 976858-976923, 976957-976965, 976976-976978, 976984-976986, 977056-977082, 977400-977402, 977405-977407, 977412-977416, 977498-977524, 978691, 978768, 979057-979063, 979359-979363, 979366-979375, 979386-979393, 981783, 981810, 981815-981830, 981837-981846, 981854-981919, 981922, 981931-981935, 981952, 981963-981974, 981978-982034, 982054-982056, 982285-982305, 983405, 983408-983409, 983417, 983425, 983427-983428, 983440-983449, 983463, 983471-983512, 983534-983745, 984326-984327, 984353-984356, 984431-984439, 984651-984656, 984661-984666, 984672, 984686-984691, 984704-984710, 984717-984722, 984773, 985074-985076, 985333-985349, 985356-985388, 985613-985626, 985630, 985635-985643, 985649-985654, 985666-985670, 985707-985709, 986677-986693, 986696-986702, 986964-986988
2GABRD10.944076526857987613591950863-1950930, 1957045-1957048, 1957052, 1957057-1957058, 1957095
3PEX1010.843017329255861549812337923-2337933, 2337946-2337948, 2337981, 2338279, 2338282, 2338286, 2338295, 2339997, 2340004-2340024, 2340200, 2343830-2343941
4NPHP410.99906563886942442815964752-5964755
5ESPN10.59103313840156104925656485016-6485225, 6485234-6485245, 6485254-6485272, 6485275-6485288, 6488301-6488336, 6488378-6488392, 6500405-6500409, 6500415-6500439, 6500442-6500447, 6500451, 6500460-6500462, 6500464-6500472, 6500485-6500486, 6500686-6500868, 6501019, 6501037-6501039, 6505726-6505740, 6505842-6505872, 6505888-6505920, 6505931-6505937, 6508701-6508740, 6508749, 6508765, 6508791-6509069, 6509093-6509139, 6511956, 6512082, 6512127-6512133, 6520090-6520131
6PLEKHG510.8632800250862343631896527914-6527934, 6528248-6528268, 6528273-6528284, 6529435, 6529438, 6529613, 6530640, 6530670, 6530806-6530807, 6530824-6530828, 6530839-6530845, 6530857-6530864, 6530869-6530891, 6530905, 6530913, 6530917, 6531108-6531110, 6531117-6531119, 6531123-6531124, 6531612, 6531621, 6532623, 6532627-6532630, 6532633, 6532636-6532637, 6532645-6532649, 6532655, 6533152, 6533403, 6533407-6533412, 6534073-6534224, 6534511-6534647, 6537692-6537693, 6537702, 6537706, 6557380-6557383
7KIF1B10.9969885187276516531310357022, 10357043, 10381795, 10407846, 10425576-10425587
8PEX1410.995590828924165113410684449, 10684465, 10684469-10684470, 10684481
9TARDBP10.994377510040167124511082299-11082305
10MASP210.9922367782629816206111105499-11105507, 11106759-11106765
11PLOD110.9880952380952426218411994837-11994846, 11994857-11994862, 11994871-11994880
12CLCNKA10.93895348837209126206416353031-16353033, 16353089-16353108, 16353228-16353233, 16353264, 16353846-16353887, 16355713-16355715, 16356956-16356991, 16357147, 16358724-16358727, 16358731, 16358737, 16358759-16358760, 16358781, 16358938, 16358943, 16358963-16358965
13CLCNKB10.9927325581395315206416373044-16373050, 16378725, 16378881-16378887
14ATP13A210.9878633926051443354317312742-17312743, 17313313, 17313568, 17313576, 17313596-17313599, 17313607, 17313610-17313623, 17313627-17313629, 17313637, 17313650-17313654, 17322616, 17322987, 17326999-17327006
15ALDH4A110.9940898345153710169219203942, 19228975, 19228983-19228984, 19228996, 19229011-19229015
16PINK110.77434135166094394174620960042-20960428, 20972124-20972130
17ALPL10.997460317460324157521903912-21903914, 21904089
18HSPG210.984213721918642081317622149835-22149836, 22155552, 22155560, 22157513, 22165432-22165434, 22165451, 22165456, 22170773-22170776, 22170791, 22181411-22181422, 22182048, 22186406, 22199113-22199157, 22199177-22199186, 22199494-22199498, 22199508-22199533, 22205080-22205095, 22207185, 22207189-22207194, 22211156-22211161, 22211166, 22263648-22263710
19WNT410.9185606060606186105622446859, 22456208-22456215, 22469339-22469415
20GALE10.993314231136587104724122661-24122666, 24122673
21HMGCL10.99897750511247197824134721
22FUCA110.9928622412562510140124194464-24194465, 24194492-24194494, 24194503-24194507
23LDLRAP110.905070118662358892725870190-25870277
24SEPN110.89028776978417183166826126722-26126904
25HPCA10.878006872852237158233359162, 33359383-33359389, 33359395-33359441, 33359448-33359463
26GJB410.983770287141071380135227358-35227370
27COL9A210.9734299516908255207040769491-40769494, 40769621, 40777369-40777371, 40781310-40781311, 40782817-40782847, 40782856-40782869
28KCNQ410.8448275862069324208841249766-41249991, 41284177-41284196, 41284216, 41284251-41284255, 41284267, 41284279-41284284, 41284293-41284297, 41284302, 41284307, 41284311, 41284319-41284324, 41284338, 41284341-41284342, 41284345-41284350, 41304029-41304070
29CLDN1910.931851851851854667543201558-43201560, 43201577, 43201638-43201679
30LEPRE110.91632745364089185221143232267-43232268, 43232277-43232281, 43232294, 43232316-43232353, 43232371-43232377, 43232398-43232402, 43232406, 43232411-43232427, 43232434-43232458, 43232470-43232511, 43232521-43232540, 43232567, 43232591, 43232594-43232596, 43232610, 43232622-43232637
31SLC2A110.9858012170385421147943396426-43396428, 43424305-43424322
32MPL10.9837526205450731190843805648-43805651, 43806161, 43814515-43814516, 43814540, 43814973-43814978, 43814984-43814985, 43814988-43815001, 43815010
33MUTYH10.9859783301465922156945798769-45798784, 45799228-45799230, 45799233-45799235
34POMGNT110.999495713565311198346660262
35CPT210.996459281740017197753662630-53662632, 53662635, 53662638-53662640
36DHCR2410.87169568020632199155155352562-55352696, 55352711-55352716, 55352735-55352792
37PCSK910.9653679653679772207955505512-55505518, 55505529-55505579, 55521733-55521739, 55529181, 55529184, 55529187-55529189, 55529201, 55529209
38LEPR10.998856489422534349866083690-66083693
39CTH10.995894909688015121870883689-70883693
40GLMN10.998879551820732178592763536-92763537
41RPL510.986577181208051289493307361-93307364, 93307382-93307388, 93307411
42ABCA410.999120492524196682294461679-94461682, 94473845, 94497491
43DPYD10.99902534113063307898348917-98348919
44COL11A110.960784313725492145457103364222-103364300, 103364312-103364318, 103364497-103364514, 103364522-103364542, 103380289-103380324, 103381202, 103405902-103405905, 103412480, 103435775-103435809, 103453240-103453243, 103480075-103480082
45AMPD110.99376114081996142244115217373-115217383, 115236066-115236068
46VANGL110.99301587301587111575116226629-116226638, 116226662
47CASQ210.99561200116244024-116244025, 116244033-116244036
48NOTCH210.973435814455231977416120458335-120458338, 120458344-120458347, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572543-120572575, 120572609-120572610, 120611957-120611992, 120612003, 120612006-120612011
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82MTR10.99341758820432253798236988686, 237024470-237024488, 237038026, 237054569, 237060942-237060944
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84FH10.99347684279191101533241672045, 241676971-241676972, 241682921, 241682924, 241682933-241682934, 241682939, 241682950, 241682990
85NLRP310.9996785599485713111247588021
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92PDSS1100.9262820512820592124826986663-26986673, 26986683-26986762, 26994285
93MASTL100.9912779673871823263727459052-27459074
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100SLC29A3100.999299719887961142873115960
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102VCL100.96622613803231115340575757966-75757977, 75757981, 75757987-75757990, 75758005-75758017, 75758019-75758025, 75758031-75758033, 75758036, 75758051-75758064, 75758088-75758133, 75854076, 75873958-75873965, 75873969, 75873974-75873977
103LDB3100.95283882783883103218488441248, 88441434-88441436, 88466322-88466343, 88476084-88476090, 88476101-88476106, 88476112-88476114, 88476148-88476188, 88476412-88476419, 88476450, 88476469, 88476483-88476492
104GLUD1100.78234943351222365167788854084-88854088, 88854098-88854100, 88854112-88854122, 88854128-88854181, 88854183, 88854186-88854192, 88854197-88854202, 88854213-88854282, 88854297-88854316, 88854339-88854526
105LIPA100.999166666666671120091007360
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108COX15100.9991889699918911233101491727
109CPN1100.9992737835875111377101816823
110PAX2100.96073903002309511299102510460, 102510473, 102587319, 102587332-102587377, 102587405, 102587420
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112HPS6100.771907216494855312328103825232-103825556, 103825617-103825656, 103825670-103825702, 103825711-103825751, 103825768-103825819, 103825841, 103826044-103826075, 103826125, 103826552, 103826706-103826708, 103827438, 103827444
113SUFU100.97044673539519431455104263912, 104263921-104263927, 104263933-104263935, 104263939-104263943, 104263949-104263952, 104263979, 104263983-104263986, 104263989, 104263995-104264004, 104264028, 104264038, 104264053-104264055, 104309847, 104309851
114COL17A1100.9995549621717824494105800125, 105816916
115EMX2100.73254281949934203759119302779-119302807, 119302815-119302960, 119302986-119303010, 119303044-119303046
116BAG3100.885416666666671981728121411188-121411367, 121436726-121436743
117HTRA1100.677061677061684661443124221169-124221634
118ACADSB100.9984603541185521299124768580, 124768583
119UROS100.998746867167921798127477544
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121SLC25A22110.915637860082382972792327, 792393, 792609-792624, 792637-792651, 792659-792671, 792686-792720, 794804
122PNPLA2110.747194719471953831515819719-819905, 823582, 823843, 823998-824034, 824122-824123, 824314-824320, 824328-824337, 824369-824386, 824399-824431, 824523-824528, 824559, 824562-824567, 824608, 824614-824631, 824639-824647, 824650, 824662, 824676-824678, 824723-824755, 824789-824795, 824862
123CTSD110.8692493946731216212391774755, 1775033-1775034, 1775082, 1775085, 1775224-1775241, 1775243-1775244, 1775315-1775338, 1775344-1775368, 1780289-1780296, 1780850-1780861, 1785022-1785089
124TNNI2110.90710382513661515491861464-1861468, 1861879, 1862080-1862081, 1862310-1862339, 1862357-1862369
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126IGF2110.734177215189871897112154232-2154258, 2161365-2161526
127TH110.9123809523809513815752187710, 2187749, 2187753-2187755, 2187760-2187766, 2187776-2187779, 2187863-2187868, 2187884-2187896, 2187956-2187957, 2187962-2187970, 2187980-2187989, 2187994-2187997, 2191005-2191009, 2191015, 2191022-2191023, 2191026, 2191920-2191949, 2191962-2192000
128KCNQ1110.8281634662727734920312466329-2466669, 2466710, 2797237, 2869099-2869100, 2869104-2869106, 2869109
129CDKN1C110.293375394321776729512905234, 2905256-2905260, 2905273-2905274, 2905339-2905346, 2905900-2906344, 2906378-2906511, 2906527-2906547, 2906558-2906602, 2906619, 2906622, 2906625-2906626, 2906633, 2906636-2906637, 2906641, 2906686-2906688
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131SBF2110.989909909909915655509838502, 10315562-10315616
132KCNJ11110.999147485080991117317409063
133ABCC8110.994521702486326474617419256, 17452472, 17498300-17498323
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136LDHA110.995995995996499918422453-18422456
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142PDHX110.996015936254986150634938265-34938270
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144SLC35C1110.994318181818186105645827596, 45827611-45827615
145PEX16110.9817483189241119104145935428, 45939256-45939259, 45939265-45939266, 45939272-45939277, 45939282, 45939292-45939296
146MADD110.999797734627831494447311507
147MYBPC3110.9973856209150310382547357520-47357526, 47365071, 47365163, 47371429
148SLC39A13110.994623655913986111647431749, 47431764, 47433912, 47433915-47433917
149RAPSN110.9895076674737713123947460394, 47460421, 47463206-47463210, 47463221, 47463224, 47463446, 47464246-47464247, 47470496
150SERPING1110.9660678642714651150357365744-57365794
151TMEM216110.99621212121212126461165257
152BEST1110.9931740614334512175861723316, 61723319, 61723388-61723397
153ROM1110.9763257575757625105662380754, 62380789-62380790, 62380830-62380849, 62381106, 62381884
154SLC22A12110.9825511432009629166264366356-64366362, 64367157, 64367269-64367281, 64367288-64367289, 64367295-64367296, 64367299-64367300, 64367355, 64367359
155PYGM110.9932779754843817252964521053-64521055, 64521134, 64521152, 64521497, 64525810-64525817, 64527158-64527160
156RNASEH2C110.7676767676767711549565487584-65487629, 65487875-65487885, 65488143-65488145, 65488165-65488174, 65488177-65488178, 65488182-65488202, 65488208-65488229
157EFEMP2110.9797297297297327133265637608-65637614, 65639806-65639825
158CST6110.946666666666672445065779534-65779539, 65779545-65779547, 65779637, 65779742, 65779753-65779755, 65780297-65780306
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160PC110.9949109414758318353766620065, 66620098, 66633674-66633679, 66633691-66633694, 66633792-66633793, 66633797, 66633802, 66633805, 66639199
161AIP110.99496475327291599367257544-67257545, 67257821-67257823
162NDUFV1110.999283154121861139567379916
163NDUFS8110.971563981042651863367799779-67799784, 67799787, 67799793-67799803
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171TYR110.9918238993710713159089028411-89028412, 89028418, 89028421-89028430
172MTMR2110.9849896480331329193295657072, 95657075-95657079, 95657082-95657094, 95657100-95657107, 95657111, 95657114
173TRPC6110.99105865522175252796101454165-101454179, 101454185-101454194
174DYNC2H1110.998377752027812112945102991268, 102991491, 102991504, 102991528-102991530, 103022919-103022920, 103043833-103043835, 103043838-103043842, 103052502, 103062257, 103093705-103093706, 103093711
175ACAT1110.9968847352024941284107992373-107992376
176ATM110.99302148075455649171108098352, 108098355, 108098362, 108098365-108098371, 108098503-108098506, 108098509-108098513, 108098519-108098521, 108121428-108121429, 108126959-108126982, 108127013, 108127028-108127030, 108127036-108127037, 108188244-108188248, 108235906-108235910
177RDX110.9994292237442911752110108286
178ALG9110.96732026143791601836111742075-111742078, 111742088-111742093, 111742111-111742121, 111742128, 111742137, 111742144, 111742147-111742182
179DLAT110.9958847736625581944111896395, 111899600-111899601, 111909971, 111909975, 111910019, 111910031, 111910048
180DRD2110.9977477477477531332113281449-113281451
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182ROBO3110.97668829608267974161124738770, 124738895, 124742409-124742410, 124745908-124745909, 124745914, 124745919-124745920, 124745923, 124745940-124745941, 124745969-124745978, 124745997-124746001, 124746016, 124746180-124746185, 124746194, 124746199-124746201, 124746209-124746214, 124746230-124746232, 124746281-124746324, 124750448-124750453
183ACAD8110.9991987179487211248134131701
184WNK1120.99412505245489427149862847-862862, 862924-862930, 862934, 862945, 862979-862980, 862983, 862989, 863055-863061, 863111-863115, 1006678
185CACNA2D4120.99765670767428834141906624-1906626, 1906666, 1906672, 2027537-2027538, 2027542
186CACNA1C120.990245389422346465612162741, 2224481, 2622069-2622086, 2788718-2788728, 2791762, 2791765, 2794934-2794940, 2797835, 2800330-2800352
187FGF23120.997354497354527564479668, 4479672
188KCNA1120.99529569892473714885020579, 5020658, 5020691-5020692, 5020759-5020761
189VWF120.9707415304430224784426058284-6058287, 6103111, 6125721-6125727, 6126020-6126036, 6127532-6127538, 6127887-6127894, 6127919, 6127943, 6128339-6128345, 6128440-6128454, 6128554-6128560, 6131112-6131118, 6131925-6131932, 6131955-6131976, 6132003-6132033, 6166044-6166072, 6166108-6166141, 6166165, 6166179-6166182, 6166185, 6166191-6166225
190TNFRSF1A120.956871345029245913686438522, 6438574-6438576, 6438579, 6438593-6438624, 6438642-6438662, 6438711
191SCNN1A120.992226794695931721876457062, 6464581, 6472609-6472614, 6472617-6472619, 6472622-6472623, 6472667, 6472718, 6472750-6472751
192TPI1120.846666666666671157506976731-6976845
193ATN1120.9708928071648510435737045599-7045600, 7045603-7045604, 7045607-7045610, 7045892-7045900, 7045912-7045932, 7046321-7046335, 7046408-7046409, 7046518, 7046587, 7046704-7046724, 7047046-7047057, 7047126-7047131, 7047140-7047144, 7050646-7050647, 7050650
194AICDA120.9983249581239515978757420
195GYS2120.995738636363649211221712048-21712053, 21712064, 21715971-21715972
196ABCC9120.9965591397849516465022025614-22025624, 22025634-22025637, 22068675
197KRAS120.99649122807018257025368395-25368396
198DNM1L120.9950248756218911221132832396-32832397, 32884052-32884060
199PKP2120.9844868735083539251433049478, 33049503-33049520, 33049523, 33049527-33049536, 33049644-33049652
200KIF21A120.9943842759727228498639726748, 39726751, 39726836-39726843, 39750675, 39836746-39836750, 39836755, 39836759-39836769
201LRRK2120.993275316455751758440643735-40643741, 40645041-40645043, 40645311-40645346, 40653301, 40713907, 40761492, 40761522, 40761548
202VDR120.993769470404988128448251303-48251308, 48251368, 48272854
203COL2A1120.9896953405017946446448372418-48372427, 48372462-48372463, 48372467-48372472, 48376362, 48380222, 48393848-48393854, 48398060-48398061, 48398068-48398076, 48398080, 48398085, 48398089-48398094
204MLL2120.975743348982794031661449420444, 49420768-49420769, 49420772-49420774, 49420781-49420786, 49420792-49420794, 49420931, 49421923, 49424453-49424457, 49425162, 49425166-49425167, 49425176-49425181, 49425184, 49425398, 49425413-49425415, 49425757, 49425790-49425791, 49425820, 49426172-49426174, 49426567, 49426573, 49426617-49426633, 49426638-49426649, 49426731, 49426735-49426737, 49426747-49426759, 49426772-49426780, 49426798, 49426848-49426864, 49426908, 49426914-49426919, 49426925, 49426930-49426939, 49426956, 49426998-49427067, 49427097, 49427206, 49427247-49427282, 49427288-49427335, 49427421, 49427578, 49427652, 49427668, 49427672, 49427682, 49431290-49431300, 49431311, 49431314-49431318, 49431326, 49431335-49431337, 49431523-49431526, 49431545, 49431554, 49431564, 49431599, 49431848-49431891, 49432030, 49433312, 49434066, 49434074, 49434294-49434298, 49435091, 49435097, 49435121-49435122, 49435132-49435134, 49435193, 49435212, 49435219, 49436355-49436366
205DHH120.90680100755668111119149483642-49483665, 49483709-49483725, 49483736-49483765, 49483802, 49483833-49483837, 49483840-49483845, 49483854-49483859, 49483917-49483925, 49483931-49483933, 49483946-49483948, 49483955, 49483985, 49483993, 49484154, 49488202, 49488234, 49488239
206AQP2120.99142156862745781650344614, 50344617, 50344631, 50349388-50349391
207ACVRL1120.9695767195767246151252307026, 52307382-52307383, 52308232-52308239, 52308250-52308256, 52308264-52308285, 52308363-52308367, 52309115
208KRT81120.9505928853754975151852681038, 52683913, 52684009-52684045, 52684899-52684905, 52685172-52685200
209KRT86120.967830253251247146152695754-52695755, 52695769-52695777, 52695787, 52695846-52695847, 52696045-52696051, 52696909-52696934
210KRT83120.991902834008112148252709830, 52709880, 52713123, 52713129, 52713132, 52714926-52714932
211KRT6B120.9911504424778815169552842705-52842706, 52844359-52844362, 52845532-52845539, 52845827
212KRT6C120.995870206489687169552863657-52863661, 52866019-52866020
213KRT6A120.997050147492635169552882207-52882211
214KRT5120.9774393683023140177352908736, 52908745, 52908748-52908752, 52908755, 52908775-52908776, 52908795, 52908822, 52908839, 52908846, 52908850, 52908873, 52908883, 52908887-52908894, 52908897, 52908921, 52908967-52908969, 52911945-52911947, 52912892-52912897, 52912925
215KRT2120.999479166666671192053040619
216KRT1120.9679586563307562193553069223-53069243, 53069251, 53069258-53069259, 53070153, 53070156, 53072506, 53073967-53074001
217AAAS120.997562461913474164153701653-53701656
218ITGA7120.9970811441914810342656078896-56078904, 56086695
219RDH5120.99686520376176395756115610-56115612
220MYO1A120.9910600255427828313257430796-57430797, 57431769, 57431784-57431785, 57431790-57431800, 57431805-57431806, 57431821-57431830
221KIF5A120.99741852210398309957944055, 57944059-57944060, 57944069, 57944074, 57944099, 57944158, 57944164
222CDK4120.99780701754386291258143099-58143100
223TSFM120.984662576687121597858176598, 58176601-58176605, 58176623-58176631
224GNS120.995177817962638165965141671-65141672, 65152973, 65152977-65152978, 65153020, 65153023, 65153053
225LEMD3120.9696637426900683273665563401, 65563406, 65563409, 65563478-65563490, 65563504-65563505, 65563589, 65563611-65563617, 65563623-65563624, 65563627-65563632, 65563636, 65563745-65563767, 65563781-65563785, 65563801, 65563890-65563895, 65563977, 65632550-65632561
226TPH2120.994568906992538147372338134-72338141
227BBS10120.999079189686922217276741981, 76742083
228CEP290120.9896505376344177744088454691, 88454698-88454702, 88472953-88472959, 88472976-88472985, 88478487, 88478509-88478514, 88519023, 88519061, 88522746-88522777, 88522784-88522787, 88523490-88523497, 88533341
229TMPO120.93285371702638140208598909705, 98909719-98909721, 98909731-98909732, 98909755-98909804, 98909818-98909843, 98909846-98909854, 98909858-98909861, 98909880-98909924
230SLC17A8120.98983050847458181770100774558-100774570, 100774583, 100774589, 100774593, 100797881-100797882
231PAH120.9992641648270811359103288643
232UNG120.9745222929936324942109535551-109535552, 109535554, 109535559-109535561, 109535575-109535580, 109535584-109535593, 109535604-109535605
233MMAB120.988047808764949753109998850-109998858
234TRPV4120.99388379204893162616110238548-110238563
235ATP2A2120.97059763502717923129110719595-110719686
236ATXN2120.821917808219187023942111895133, 112036588-112037236, 112037256-112037288, 112037300-112037318
237PTPN11120.99046015712682171782112856916-112856929, 112891156-112891158
238SDS120.996960486322193987113835110-113835111, 113836587
239TBX5120.99229287090559121557114804112-114804121, 114841603-114841604
240TBX3120.929211469534051582232115109870-115109872, 115109878-115109879, 115109905, 115112002-115112003, 115112011, 115112048-115112056, 115112059-115112061, 115112065-115112068, 115112108-115112110, 115112131-115112136, 115112144, 115112152-115112154, 115112168, 115112211-115112219, 115112239-115112246, 115112268, 115112276, 115112321-115112339, 115112352-115112402, 115112435-115112441, 115112446-115112461, 115112582-115112588
241ACADS120.9951573849878961239121163718, 121163721, 121174899-121174902
242HNF1A120.96255274261603711896121416594, 121416597, 121416616-121416622, 121416644-121416646, 121416650, 121416687-121416688, 121416721, 121416724, 121434346-121434387, 121434454-121434460, 121435342, 121435350, 121435360-121435361, 121437413
243ATP6V0A2120.9976662777129562571124197221-124197224, 124209298, 124209332
244PUS1120.852024922118381901284132414268-132414341, 132414453-132414530, 132425972-132425993, 132426010-132426025
245GJB6130.99872773536896178620797201
246SGCG130.99885844748858187623824817
247SACS130.987772925764191681374023908620-23908628, 23908638-23908647, 23949260-23949408
248PDX1130.8098591549295816285228494309-28494317, 28494330, 28494334, 28494338, 28494391-28494428, 28494446, 28494482, 28494530-28494537, 28494541-28494547, 28494561-28494568, 28494589-28494596, 28498396, 28498401, 28498413-28498416, 28498477, 28498510, 28498528, 28498610-28498619, 28498666-28498722, 28498820-28498822
249B3GALTL130.9532398129592570149731774222-31774291
250BRCA2130.9998050112118621025732929403, 32944625
251SPG20130.997501249375315200136909844-36909848
252FREM2130.9942166140904355951039261635-39261673, 39261778-39261781, 39261787, 39261795, 39261911, 39261916, 39261928-39261929, 39261938, 39261941, 39261955-39261956, 39261962, 39263161
253TNFSF11130.97274633123692695443148441-43148443, 43148447-43148448, 43148458, 43148464-43148465, 43148469-43148477, 43148492-43148495, 43148500-43148502, 43148518, 43148527
254SUCLA2130.997126436781614139248528327-48528328, 48528339-48528340
255RB1130.9680660208109189278748878097-48878185
256RNASEH2B130.963791267305643493951484213-51484244, 51530589-51530590
257CLN5130.9616013071895447122477566111-77566137, 77566279-77566292, 77566360, 77566402-77566406
258EDNRB130.984951091045920132978474752-78474771
259SLITRK1130.9866092778574828209184453759-84453765, 84453771-84453786, 84453804-84453808
260GPC6130.9898081534772217166893879750-93879752, 95050848-95050861
261ZIC2130.507817385866177871599100634319-100634832, 100634846, 100634911-100634915, 100634960, 100635013-100635047, 100635058-100635059, 100635066-100635072, 100635198-100635200, 100637345, 100637631-100637632, 100637646, 100637650-100637651, 100637657-100637658, 100637667-100637669, 100637672-100637673, 100637699-100637878, 100637887-100637912
262PCCA130.9817101051669402187100741408-100741447
263FGF14130.988142292490129759102378986-102378994
264COL4A1130.98522954091816745010110813695, 110823001, 110853829, 110864254-110864260, 110864264, 110959312-110959374
265F7130.871161048689141721335113760162-113760169, 113765004-113765090, 113765098-113765125, 113765128-113765130, 113765133-113765142, 113765153-113765160, 113772802, 113772949-113772951, 113772964-113772968, 113772971, 113773287-113773304
266F10130.998636673483321467113798240-113798241
267GRK1130.96335697399527621692114321808-114321827, 114322144, 114322175, 114325872-114325888, 114325950-114325971, 114426075
268TEP1140.9970826991374923788420843983-20843985, 20848525, 20851763, 20851766-20851773, 20851776-20851785
269RPGRIP1140.99715099715111386121769155-21769162, 21769178-21769179, 21769187
270SLC7A7140.9941406259153623282122-23282125, 23282131-23282135
271PABPN1140.6156351791530935492123790679-23791029, 23793378-23793380
272MYH6140.998453608247429582023857535, 23858223, 23859614, 23863351-23863354, 23871916, 23871919
273MYH7140.9858815426997282580823883259, 23883289, 23885515-23885516, 23886747, 23886752-23886754, 23887521-23887524, 23887529-23887536, 23887551-23887588, 23888387-23888405, 23894074, 23900156-23900159
274NRL140.6876750700280122371424550535-24550757
275PCK2140.997919916796674192324566343-24566346
276TGM1140.9849225753871237245424727494-24727529, 24731442
277FOXG1140.66326530612245495147029236486-29236970, 29237066, 29237333, 29237338, 29237352, 29237780, 29237784, 29237790-29237792, 29237796
278COCH140.995160314579558165331344262-31344263, 31344272-31344277
279CFL2140.99201596806387450135182336, 35183744-35183746
280NKX2-1140.68242122719735383120636986503, 36986577-36986584, 36986622, 36986688-36986945, 36986967, 36986970, 36986986-36986988, 36986997, 36987024-36987039, 36987048-36987052, 36987109, 36987114, 36987123-36987124, 36987196-36987200, 36988270-36988277, 36988362, 36988372-36988378, 36988390-36988396, 36988421, 36989265-36989272, 36989281-36989327
281PAX9140.996101364522424102637131295-37131298
282FANCM140.9983731901740710614745605352, 45605355-45605356, 45605359-45605363, 45605367, 45667894
283MGAT2140.997767857142863134450088345-50088347
284C14orf104140.80429594272076492251450100596-50100605, 50100628-50100633, 50100676-50100680, 50100683-50100692, 50100716-50100720, 50100723-50100734, 50100748-50100751, 50100774-50100779, 50100798-50100886, 50100899-50101020, 50101029-50101102, 50101130-50101175, 50101258-50101260, 50101274, 50101341-50101346, 50101366, 50101369-50101370, 50101374-50101378, 50101394-50101414, 50101435-50101479, 50101516, 50101548-50101554, 50101572-50101575, 50101711-50101716, 50101854
285ATL1140.992779783393512166251080042-51080053
286PYGL140.996855345911958254451410941-51410944, 51410952-51410954, 51411078
287GCH1140.814077025232414075355312531, 55312546, 55312551, 55369105-55369108, 55369161, 55369206-55369210, 55369221-55369223, 55369239-55369270, 55369278-55369285, 55369298-55369381
288OTX2140.99664429530201389457272087, 57272091, 57272104
289SIX1140.964912280701753085561115430, 61115443, 61115562-61115573, 61115607-61115618, 61115729-61115732
290SYNE2140.9981181239143392072464443313-64443326, 64537444, 64545200-64545202, 64593121, 64676722-64676727, 64676821-64676824, 64692115-64692116, 64692120-64692123, 64692132-64692135
291ZFYVE26140.99908136482947762068215254-68215256, 68242688, 68242692, 68242696, 68274223
292PSEN1140.999287749287751140473678628
293VSX2140.947513812154757108674706287, 74706329, 74706340, 74706379, 74706383, 74706395-74706398, 74706417, 74706431-74706434, 74706448-74706449, 74706463, 74706560-74706567, 74706601-74706632
294EIF2B2140.9839015151515217105675471481-75471485, 75471489-75471491, 75471494, 75471507, 75471515, 75471594-75471599
295FLVCR2140.999367488931061158176045397
296ESRRB140.9580877537655564152776964651-76964676, 76964685-76964720, 76964785, 76964788
297POMT2140.969374167776369225377786843-77786906, 77786917, 77786962, 77786965-77786967
298TSHR140.997821350762535229581422062-81422066
299GALC140.9611273080660880205888434748-88434754, 88442816-88442828, 88454528, 88459337, 88459345, 88459365, 88459373, 88459376, 88459392-88459400, 88459404, 88459411-88459437, 88459461-88459477
300SPATA7140.996111111111117180088859799-88859805
301TTC8140.998708010335922154889337896, 89343716
302ATXN3140.9677716390423635108692537351-92537385
303VRK1140.982367758186421119197304134-97304154
304AMN140.511747430249636651362103395116-103395123, 103395142-103395180, 103395192-103395227, 103395259-103395266, 103395286-103395300, 103395496-103395566, 103395579-103395595, 103395765-103395815, 103395824-103395868, 103395992-103395996, 103396273-103396312, 103396369, 103396380, 103396384-103396387, 103396395-103396397, 103396502-103396664, 103396743-103396830, 103396913-103396941, 103396961-103396973, 103396990-103397017
305INF2140.84485823750105167888-105167926, 105167975, 105170255-105170278, 105173305, 105173352, 105173609-105173613, 105173616-105173620, 105173635-105173664, 105173671-105173683, 105173691-105173698, 105173707-105173711, 105173722-105173726, 105173731, 105173739, 105173744, 105173750-105173780, 105173786-105173791, 105173794, 105173803, 105173806-105173809, 105173839-105174129, 105174141-105174166, 105174181-105174196, 105174338-105174339, 105174895, 105175985-105175990, 105177499-105177511, 105178033-105178036, 105179786-105179822, 105179883, 105179895-105179896
306NIPA1150.8202020202020217899023086234-23086411
307SNRPN150.99861687413555172325222963
308OCA2150.9952324195470812251728202800, 28263668, 28267681-28267684, 28273160, 28326956-28326957, 28326971, 28326976, 28326979
309TRPM1150.9958437240232820481231320549, 31320552-31320556, 31320578-31320579, 31320591-31320594, 31320635, 31332373-31332379
310SLC12A6150.9968143643208811345334549979-34549989
311ACTC1150.993827160493837113435086923-35086929
312SPRED1150.998501872659182133538614525, 38614529
313CHST14150.86118479221928157113140763413-40763493, 40763499-40763547, 40763569-40763581, 40763617, 40763634-40763638, 40763692, 40763737, 40763747, 40763755, 40763795-40763796, 40763802, 40763809
314CAPN3150.999183006535952244842652050-42652051
315CDAN1150.86780673181325487368443017734-43017737, 43017742, 43018342, 43018345, 43019927, 43021445-43021446, 43021449-43021455, 43021772, 43021778-43021783, 43021789-43021795, 43026499-43026514, 43026524-43026532, 43028228-43028236, 43028550-43028551, 43028557, 43028577, 43028591-43028592, 43028604-43028612, 43028615-43028618, 43028666-43028978, 43029211-43029300
316TTBK2150.9906291834002735373543067443-43067448, 43067863-43067868, 43103896, 43103901-43103903, 43103943-43103953, 43103956-43103963
317STRC150.96809309309309170532843892844-43892850, 43897496-43897503, 43903366-43903368, 43905035, 43905041, 43905051-43905079, 43906204-43906206, 43906213, 43906439-43906446, 43907888-43907894, 43908076, 43910187-43910225, 43910436-43910443, 43910863-43910916
318STRC150.99329983249581459744002825, 44002828-44002829, 44002836
319STRC150.9692307692307760195044007350-44007356, 44007538, 44008281-44008293, 44009649-44009687
320SPG11150.99931805782875733244876593-44876594, 44955703-44955704, 44955708
321DUOX2150.9840757477942874464745392423, 45401055, 45403582-45403597, 45403605-45403627, 45403655, 45403718, 45403742-45403749, 45403755-45403776, 45403783
322GATM150.9732704402515734127245670591-45670597, 45670607-45670620, 45670625-45670628, 45670631-45670637, 45670640-45670641
323SLC12A1150.9866330048527124-48527174, 48548092-48548105, 48577439
324FBN1150.9959377901578535861648719916-48719922, 48737682-48737688, 48737693, 48737696-48737701, 48744811-48744818, 48808407-48808410, 48936955-48936956
325CEP152150.999798590130921496549044620
326CYP19A1150.998015873015873151251520063, 51520067-51520068
327SCG3150.9822316986496125140751975299-51975313, 51980499, 51981547-51981555
328TPM1150.959064327485383585563335129-63335135, 63335905-63335926, 63335930-63335935
329PPIB150.96159754224272565164455116-64455126, 64455132, 64455138, 64455145-64455149, 64455159-64455164, 64455185
330MAP2K1150.995769881556685118266679732, 66782901-66782904
331CLN6150.907051282051288793668500486-68500489, 68521840-68521922
332NR2E3150.9764492753623226110472103146, 72103149, 72103844-72103847, 72103850-72103855, 72103915, 72104122, 72104165, 72104173, 72104184, 72104823-72104831
333HEXA150.994339622641519159072668117, 72668129, 72668265, 72668269-72668272, 72668277, 72668281
334HCN4150.73338870431894963361273614834, 73614854, 73614861-73614866, 73614876-73614940, 73614960-73614983, 73615012-73615023, 73615030-73615034, 73615078-73615080, 73615158-73615175, 73615223-73615266, 73615345-73615372, 73615412-73615422, 73615476-73615478, 73615503-73615512, 73615531, 73615564, 73615578-73615671, 73615733-73615741, 73615894-73615919, 73615953, 73616035-73616037, 73616060, 73616073-73616085, 73616098-73616102, 73616124, 73616136, 73616148-73616160, 73616164-73616175, 73616180-73616182, 73616568, 73616591, 73617460-73617464, 73660049-73660051, 73660074-73660611
335RPS17150.953431372549021940882823386-82823393, 82824389-82824399
336RPS17150.953431372549021940883207729-83207736, 83208732-83208742
337FANCI150.998495109104596398789790928, 89843174-89843178
338POLG150.9768817204301186372089876336-89876344, 89876435, 89876601-89876613, 89876807-89876869
339MESP2150.84673366834171183119490319731-90319751, 90319758-90319810, 90319850-90319851, 90319863-90319869, 90319874-90319878, 90319900-90319905, 90319932-90319941, 90319944-90319946, 90319952, 90319994-90320002, 90320014, 90320032-90320035, 90320046-90320047, 90320052-90320053, 90320059-90320063, 90320075-90320091, 90320101, 90320113-90320123, 90320129-90320146, 90320161, 90320164, 90320226-90320227, 90320258
340BLM150.998824635637055425491312719-91312722, 91337405
341VPS33B150.998921251348442185491565414, 91565421
342IGF1R150.97270955165692112410499192811-99192904, 99473499-99473501, 99473517-99473519, 99473522, 99500498, 99500581-99500590
343HBZ160.38461538461538264429203891-204095, 204271-204328, 204392
344HBM160.8779342723004752426216016-216018, 216324-216341, 216381-216389, 216402-216406, 216412-216420, 216441-216443, 216447-216451
345HBA2160.9440559440559424429222917, 222951-222973
346GNPTG160.93028322440087649181401967-1402018, 1402105, 1402147-1402155, 1402159-1402160
347CLCN7160.9164598842018220224181497035-1497075, 1497081-1497087, 1497394, 1497525, 1497554-1497557, 1500658-1500664, 1524835-1524975
348IGFALS160.9244306418219514619321840618-1840638, 1841010-1841034, 1841123-1841131, 1841215-1841222, 1841225, 1841228-1841229, 1841265-1841289, 1841471, 1841474, 1841486, 1841550-1841566, 1841588-1841592, 1841621-1841623, 1841853-1841859, 1842062-1842073, 1842081, 1842084-1842085, 1842300, 1842353, 1842364, 1842386-1842387
349GFER160.622977346278322336182034220-2034443, 2034452-2034459, 2034466
350TSC2160.994284660766963154242103394, 2103397-2103398, 2103401, 2121848-2121849, 2121853-2121856, 2121869, 2124370-2124375, 2124379, 2129617-2129626, 2133696-2133697, 2136282
351PKD1160.817379182156132358129122139822-2139827, 2139841-2139886, 2139894-2139914, 2140052, 2140067, 2140164-2140167, 2140305, 2140321, 2140680, 2140691, 2140713-2140716, 2140747, 2140789-2140796, 2140801, 2140808-2140809, 2140913-2140938, 2140969, 2140993-2141003, 2141011-2141012, 2141017, 2141024, 2141029, 2141044, 2141051-2141060, 2141063-2141071, 2141078-2141175, 2141424-2141494, 2141501-2141513, 2141517-2141533, 2141548-2141551, 2141557, 2141574-2141578, 2141592, 2141595, 2141806-2141808, 2141812-2141815, 2141818, 2141821, 2141827-2141833, 2142498-2142522, 2143063, 2143658, 2147150-2147160, 2147191-2147196, 2147381-2147382, 2147388, 2147396, 2147481-2147487, 2147926-2147956, 2150019-2150059, 2150072, 2150208, 2150456-2150477, 2152126-2152136, 2152501, 2153277-2153302, 2153375, 2153462, 2153465-2153467, 2153592-2153621, 2153663-2153669, 2153672-2153673, 2153680-2153693, 2153697-2153719, 2153722-2153730, 2153735, 2153756, 2153759-2153762, 2153789-2153827, 2153838-2153875, 2154576-2154643, 2155327-2155385, 2156245-2156277, 2156442-2156450, 2156491-2156503, 2156600, 2156610, 2156657-2156678, 2156810-2156825, 2156847-2156876, 2156935-2156943, 2158253-2158261, 2158311, 2158327, 2158406-2158415, 2158527-2158575, 2158686-2158707, 2158765, 2158772-2158773, 2158855, 2158893, 2158898, 2158919, 2159080, 2159144-2159178, 2159244, 2159256-2159298, 2159384-2159415, 2159465-2159466, 2159649, 2159992-2160000, 2160495-2160527, 2160713-2160724, 2160769-2160775, 2161308-2161339, 2161719-2161720, 2161730, 2161738-2161746, 2161793-2161821, 2162834-2162839, 2162952-2162964, 2164238-2164244, 2164416-2164465, 2164532-2164539, 2164676, 2164679-2164681, 2164805-2164826, 2165501-2165507, 2165621-2165626, 2165998-2166044, 2166560, 2166567, 2166577-2166578, 2166851-2166880, 2166892-2166918, 2166971-2166982, 2167546-2167548, 2167551, 2167554-2167558, 2167561-2167566, 2167672-2167673, 2167815, 2167829, 2167832, 2167843-2167845, 2167871-2167896, 2167917-2168000, 2168022-2168080, 2168098-2168130, 2168144-2168215, 2168234, 2168238-2168244, 2168282-2168431, 2168445-2168463, 2168680, 2168726-2168775, 2169365-2169379, 2185476-2185690
352ABCA3160.99921798631476451152334946, 2335450, 2338050, 2349454
353MEFV160.992753623188411723463304515, 3304613, 3304654, 3304657-3304661, 3304679, 3304682, 3304691-3304697
354SLX4160.992007266121714455053632375, 3632487-3632492, 3632554-3632556, 3632560, 3632584, 3633283-3633285, 3633289-3633298, 3639788, 3639852, 3642808, 3647902-3647903, 3647906, 3647909, 3647914-3647923, 3647926-3647927
355CREBBP160.9224996588893456873293777743, 3777747-3777757, 3777766, 3777777-3777783, 3777789, 3777796-3777810, 3778161, 3778164, 3778176, 3778296, 3778299, 3778391-3778397, 3778401-3778403, 3778417-3778422, 3778433-3778434, 3778438, 3778446-3778451, 3778457-3778460, 3778563, 3778573-3778611, 3778632, 3778640-3778641, 3778648-3778650, 3778788, 3778839-3778854, 3778862-3778867, 3778878-3778886, 3778891, 3778897-3778906, 3778915-3778939, 3778946-3778959, 3778963-3778971, 3778977-3778983, 3778986, 3779008-3779010, 3779028-3779049, 3779058-3779062, 3779093, 3779178-3779244, 3779279, 3779292-3779296, 3779301, 3779308-3779315, 3779320-3779323, 3779340, 3779343, 3779354-3779395, 3779407-3779428, 3779436-3779498, 3790422-3790446, 3819321-3819324, 3929840-3929917
356GLIS2160.9130158730158713715754386814, 4386817, 4386989, 4387001-4387008, 4387032-4387055, 4387064-4387089, 4387113, 4387139-4387167, 4387183-4387204, 4387374-4387397
357ALG1160.8903225806451615313955121851-5121854, 5121864-5121868, 5121892-5121897, 5121901, 5121929-5121930, 5128831-5128871, 5129066-5129073, 5130959-5130999, 5131020-5131057, 5134813-5134819
358ABAT160.99933466400532115038866753
359MYH11160.998316498316510594015811097, 15811102, 15811105, 15811127-15811133
360ABCC6160.9858156028368864451216244033, 16244056, 16248849, 16267141-16267150, 16297381, 16313412, 16313792, 16315608, 16315619, 16315657-16315679, 16317269-16317291
361UMOD160.9927197087883514192320359873, 20359981-20359991, 20360121, 20360142
362OTOA160.9967836257309911342021696601-21696603, 21696606, 21742176-21742182
363SCNN1B160.996879875195016192323359957, 23359968, 23391876-23391879
364COG7160.9904885430177322231323403713, 23436146-23436164, 23436170-23436171
365CLN3160.993925588458628131728497671, 28497704, 28497708-28497712, 28498830
366TUFM160.9619883040935752136828857391-28857410, 28857413, 28857415-28857427, 28857544-28857550, 28857554, 28857558-28857559, 28857562, 28857569-28857575
367ATP2A1160.995675316034613300628911972, 28911999, 28912009-28912011, 28912134-28912141
368CD19160.996409335727116167128948396, 28948402, 28948407-28948409, 28948442
369PHKG2160.9197379197379298122130760142-30760236, 30768358-30768360
370FUS160.9778621125869735158131195279, 31195283-31195288, 31195294-31195303, 31195582-31195591, 31195602, 31195611, 31195693-31195698
371SLC5A2160.9578999504705385201931499007, 31500024, 31500054-31500093, 31500253-31500261, 31500330-31500358, 31500445, 31500452-31500453, 31501746-31501747
372PHKB160.999695307739181328247684784
373NOD2160.9961575408261312312350733667, 50745203, 50745503, 50745796-50745797, 50745837, 50745890-50745895
374SALL1160.9783647798742186397551175235, 51175242, 51175431, 51175433-51175437, 51175456-51175458, 51175462-51175464, 51175640-51175689, 51175698-51175702, 51175705, 51185085-51185086, 51185088-51185090, 51185093-51185102, 51185104
375RPGRIP1L160.997973657548138394853672254, 53672311-53672314, 53672317, 53672322, 53691443
376MMP2160.9520927887039895198355513397-55513436, 55513448-55513468, 55513476, 55513480-55513487, 55513494-55513498, 55513509-55513525, 55513529-55513530, 55530887
377BBS2160.998153277931674216656545158-56545161
378SLC12A3160.9961202715809912309356899219, 56899222, 56899264-56899267, 56899291, 56901098, 56921867-56921870
379COQ9160.99895506792059195757481472
380GPR56160.9951550387596910206457684213, 57687233, 57689314, 57689317-57689323
381CNGB1160.9816293929712569375657918150, 57918238-57918266, 57918314-57918351, 57996885
382TK2160.956709956709964092466583841-66583856, 66583889, 66583928-66583948, 66584039, 66584079
383HSD11B2160.77504105090312274121867465152-67465329, 67465366, 67465369-67465377, 67465381-67465384, 67469643-67469651, 67469972-67469978, 67469989, 67469994-67469995, 67470013, 67470017-67470031, 67470040-67470044, 67470152, 67470171-67470203, 67470289, 67470532, 67470536-67470538, 67470634-67470635, 67470887
384LCAT160.9712773998488338132367974059-67974073, 67976864-67976865, 67976868-67976874, 67976983-67976984, 67976987-67976992, 67977000-67977005
385CDH1160.9954699886749712264968771348-68771350, 68771353-68771355, 68771358-68771360, 68771364-68771366
386COG8160.951604132680889183969364744, 69364767-69364769, 69364775-69364780, 69364794-69364798, 69364816, 69364819, 69364829, 69364832-69364833, 69373085, 69373127, 69373130, 69373184-69373186, 69373214-69373276
387HP160.9746109746109731122172092158-72092164, 72092175, 72093014-72093036
388GCSH160.7509578544061313052281129736-81129773, 81129786-81129839, 81129846-81129883
389GAN160.90691192865106167179481348719-81348885
390MLYCD160.64372469635628528148283932750-83933277
391LRRC50160.999081726354452217884179149-84179150
392FOXF1160.66842105263158378114086544176-86544246, 86544255-86544300, 86544406-86544411, 86544416, 86544422, 86544425-86544426, 86544434-86544435, 86544500-86544537, 86544553-86544555, 86544582-86544617, 86544646-86544652, 86544699-86544705, 86544744, 86544748, 86544762, 86544831-86544867, 86544896-86545011, 86545062, 86545065
393FOXC2160.53519256308101700150686601016, 86601078-86601089, 86601096-86601137, 86601333, 86601366, 86601427-86601462, 86601511, 86601521, 86601569, 86601612, 86601626-86602209, 86602368-86602376, 86602428-86602429, 86602439-86602446
394JPH3160.87138406764575289224787636896-87636897, 87636900-87636907, 87636919-87636926, 87636929, 87636948-87636955, 87636964-87636968, 87678144, 87678161, 87678280-87678287, 87678454, 87723297, 87723300, 87723325-87723374, 87723384-87723390, 87723426-87723449, 87723499, 87723502, 87723506, 87723509, 87723522-87723563, 87723572-87723597, 87723603-87723631, 87723662-87723663, 87723666, 87723677-87723678, 87723687-87723688, 87723712-87723752, 87723763-87723764, 87723965-87723968, 87723975-87723982
395CYBA160.8163265306122410858888709766, 88709779-88709785, 88709828-88709833, 88709837, 88709854-88709858, 88709874, 88709877-88709888, 88709899, 88709912-88709914, 88709924-88709930, 88709933, 88709953, 88709967-88709977, 88712566-88712573, 88712580-88712594, 88714506, 88717364-88717382, 88717386, 88717391-88717397
396APRT160.98710865561694754388878300-88878306
397GALNS160.92096876991714124156988884466, 88884477-88884478, 88889008, 88923166-88923285
398SPG7160.91917922948074193238889574826-89575008, 89579413-89579416, 89598353, 89598356, 89623481-89623484
399FANCA160.96611721611722148436889805051, 89837024, 89839790-89839792, 89842150-89842178, 89842187-89842214, 89877366-89877372, 89882945-89883023
400TUBB3160.89356984478936144135389989810-89989866, 90001686-90001689, 90001695-90001707, 90001722-90001724, 90001736, 90001795-90001797, 90001802-90001803, 90001902-90001944, 90001951-90001960, 90001995, 90002003-90002005, 90002196, 90002209-90002211
401PRPF8170.99985730593607170081557224
402PAFAH1B1170.99918896999189112332569347
403CTNS170.95926849542814912033559823, 3559880, 3560024-3560059, 3560071-3560080, 3560084
404CHRNE170.989203778677461614824802110, 4802376-4802383, 4802401, 4802623, 4802638, 4802654, 4802657, 4802660-4802661
405GP1BA170.983333333333333219204836233-4836235, 4836258-4836274, 4837171-4837172, 4837473-4837475, 4837545-4837551
406AIPL1170.980086580086582311556329082-6329092, 6329993, 6329997-6329999, 6330261-6330268
407PITPNM3170.9398290598290617629256358661-6358663, 6358681-6358684, 6358690-6358692, 6358707-6358729, 6358734-6358744, 6358756, 6358763-6358782, 6358786-6358791, 6358795, 6358805-6358834, 6358843-6358852, 6358871-6358874, 6358882-6358884, 6358897-6358903, 6358910, 6358913-6358921, 6358929, 6358933-6358934, 6358938, 6358942-6358943, 6358953-6358963, 6368050, 6459705-6459726
408ACADVL170.980182926829273919687123316-7123319, 7123325-7123329, 7123466, 7123475-7123487, 7127708-7127711, 7127826, 7127834, 7127837-7127840, 7127969, 7127972-7127976
409CHRNB1170.987383798140771915067348484, 7348487, 7348625, 7348657-7348662, 7348719, 7348722, 7348728, 7350211-7350213, 7350219-7350222
410MPDU1170.9986559139784917447490529
411GUCY2D170.8384661835748853533127906366-7906748, 7906754-7906853, 7906867-7906874, 7906883-7906884, 7906890, 7906893-7906899, 7906907-7906914, 7906985, 7906998, 7907012, 7907015, 7907019, 7919803-7919809, 7919813-7919817, 7919831-7919839
412ALOX12B170.986704653371322821067976213-7976214, 7976217-7976228, 7976503, 7976591, 7984233-7984240, 7984434-7984435, 7984452-7984453
413ALOXE3170.9396067415730312921368013234-8013279, 8013287-8013320, 8013720-8013734, 8013748-8013781
414HES7170.330383480825964546788024889-8025129, 8025136-8025142, 8025144-8025147, 8025162-8025164, 8025180, 8025190-8025195, 8025226-8025229, 8025241-8025340, 8025661-8025748
415MYH8170.999828001375991581410316019
416MYH3170.9977674738107513582310534932-10534936, 10534943, 10534946-10534951, 10535287
417SCO1170.99889624724062190610600695
418ELAC2170.9879081015719530248112896189-12896197, 12899035-12899036, 12899046-12899047, 12899057, 12899060-12899066, 12899070, 12909135-12909138, 12921171, 12921174-12921175, 12921240
419COX10170.9894894894894914133214095306-14095312, 14095345-14095351
420PMP22170.958592132505182048315163967-15163970, 15163974, 15163977, 15163989-15164000, 15164003, 15164017
421RAI1170.96608984443279194572117696364-17696400, 17696419, 17696433, 17696439-17696446, 17696457-17696497, 17696509, 17696513, 17696720-17696721, 17696735, 17697097-17697099, 17697105-17697106, 17697116-17697126, 17697132, 17697149, 17697234-17697236, 17697392-17697395, 17697403, 17697613-17697623, 17697719-17697727, 17697826-17697835, 17698200-17698216, 17698238-17698240, 17698254, 17698876-17698880, 17699143, 17699618, 17699621, 17699838, 17699992-17699995, 17700002-17700004, 17700800-17700803, 17701546-17701547, 17701554-17701555
422MYO15A170.8887000849617711791059318022467, 18022587-18022588, 18022592, 18022600, 18022642, 18023743-18023761, 18023829, 18023832-18023833, 18023860, 18023882-18023893, 18023897, 18023904-18023910, 18023942-18023943, 18023976-18024681, 18024691-18024763, 18024772-18024776, 18024779-18024782, 18024787-18024790, 18024793-18024824, 18024833, 18024836-18024840, 18024844-18024845, 18024859-18024860, 18024869-18024874, 18024878-18024896, 18024900, 18024903, 18024924, 18024936, 18025017-18025037, 18025054-18025068, 18045498, 18049347-18049352, 18049361-18049365, 18052825, 18052828-18052829, 18054540, 18054828, 18054841, 18057089-18057179, 18057185-18057210, 18058629, 18061090-18061099, 18061121-18061144, 18061157-18061189, 18070959-18070979, 18075062-18075066
423ALDH3A2170.9810085134250229152719552339-19552367
424UNC119170.6957123098201922072326879356-26879575
425NEK8170.9966329966337207927067527, 27067537, 27067981-27067985
426SLC6A4170.9941891178024311189328543110-28543114, 28543177-28543182
427NF1170.9862676056338117852029422328-29422387, 29546075-29546089, 29546098-29546101, 29586135, 29588762-29588792, 29654544-29654549
428PEX12170.99629629629634108033904918-33904921
429HNF1B170.9916367980884114167436104656-36104661, 36104714-36104719, 36104748, 36104769
430TCAP170.99007936507937550437822042-37822046
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514LDLR190.999225706542782258311200225, 11224265
515PRKCSH190.9798361688720932158711558259-11558260, 11558323, 11558340-11558348, 11558351-11558367, 11558526, 11558537, 11559790
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518GCDH190.993166287015959131713002147-13002151, 13002153-13002154, 13002156-13002157
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523IL12RB1190.995977878330828198918177463, 18177478-18177480, 18179325-18179327, 18197570
524COMP190.78891820580475480227418896312, 18896315-18896322, 18896484-18896531, 18896539-18896544, 18896547-18896552, 18896557, 18896580, 18896775-18896782, 18896845-18896847, 18898448, 18899032-18899064, 18899219-18899280, 18899289-18899298, 18899303-18899323, 18899401-18899507, 18899650, 18899653, 18900014, 18900018-18900019, 18900040, 18900061, 18900088-18900106, 18900751-18900850, 18900860, 18900867, 18900870-18900882, 18900885-18900894, 18900906, 18901663-18901665, 18901668-18901676
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530TYROBP190.99115044247788333936398362-36398364
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532WDR62190.9927821522309733457236550925-36550928, 36562593-36562599, 36595725-36595734, 36595744-36595753, 36595760, 36595899
533RYR1190.9458225838468191511738931385-38931451, 38933021, 38942452-38942454, 38942459, 38943503-38943507, 38943516-38943520, 38959612, 38964357, 38968404, 38968414, 38968419, 38968472, 38968506, 38968509, 38976337-38976338, 38976649-38976698, 38976704-38976716, 38976762-38976765, 38976770, 38985116-38985118, 38987500, 38987504-38987511, 38987515-38987529, 38990336, 38990347, 38990613, 38990642, 38993155, 38993165-38993206, 38993225-38993256, 38997481, 38998393-38998435, 39009992, 39009998, 39018337-39018339, 39018381-39018384, 39037085-39037151, 39037165-39037166, 39055610, 39055613, 39055722, 39055736, 39055774-39056178, 39056217, 39056224-39056229, 39056231, 39056295-39056304, 39056316-39056318, 39062737
534ACTN4190.9437134502924154273639138410-39138451, 39138472-39138547, 39214629, 39214667-39214669, 39214674, 39214797-39214801, 39214806-39214807, 39214814, 39214825, 39214841-39214848, 39214854, 39214857-39214862, 39214868-39214869, 39216473, 39219743, 39219950-39219952
535DLL3190.84221863220248293185739989645, 39989650, 39989892-39989900, 39990017, 39993467-39993502, 39993509-39993558, 39993573-39993577, 39993594-39993598, 39993601-39993605, 39993613, 39993621, 39993625-39993626, 39993629-39993639, 39993660, 39997785-39997917, 39997924, 39997928, 39997946, 39998010-39998013, 39998020-39998022, 39998033-39998035, 39998078-39998086, 39998116, 39998119, 39998126, 39998136-39998140, 39998255
536PRX190.96830825353397139438640900276-40900277, 40900280, 40901304-40901328, 40903085, 40903414, 40903419-40903423, 40903473-40903476, 40903677, 40909613-40909620, 40909626-40909668, 40909705-40909731, 40909735-40909736, 40909740-40909742, 40909754-40909769
537TGFB1190.90622335890878110117341836991-41837024, 41837033-41837086, 41854252, 41854269-41854271, 41858773-41858774, 41858875, 41858915, 41858921, 41858927-41858939
538BCKDHA190.9730941704035936133841903771-41903778, 41903789-41903790, 41903794-41903803, 41916559-41916560, 41928540-41928551, 41930437, 41930446
539ATP1A3190.94562262098967200367842470790-42470792, 42470799, 42470944-42470971, 42470993, 42470996-42471003, 42471013-42471022, 42471026, 42471041, 42471048-42471050, 42471180-42471181, 42471311-42471318, 42471327, 42471330-42471337, 42471353-42471378, 42480571, 42480577-42480582, 42480589-42480614, 42480620-42480628, 42480663-42480718, 42489338
540ETHE1190.99869281045752176544031280
541BCAM190.92474827768945142188745312403, 45312408, 45312411-45312447, 45312449-45312452, 45321861, 45322949, 45322952-45322958, 45323970-45323977, 45323988, 45323993-45323994, 45324003-45324009, 45324014-45324079, 45324173-45324178
542APOE190.6970649895178228995445411790-45411803, 45411852-45411854, 45411867-45411872, 45411878-45411880, 45411882-45411894, 45411898, 45411906-45411920, 45411935-45411936, 45411938, 45411942-45411945, 45411947, 45411959-45411978, 45411989, 45411992, 45412030-45412063, 45412074, 45412082-45412083, 45412094-45412138, 45412145-45412164, 45412171-45412177, 45412206-45412209, 45412223-45412263, 45412284-45412291, 45412350-45412351, 45412423-45412426, 45412429-45412441, 45412469-45412491
543APOC2190.960784313725491230645452425-45452436
544BLOC1S3190.6190476190476223260945682579, 45682585, 45682624, 45682627, 45682637-45682648, 45682701-45682704, 45682756-45682761, 45682785-45682789, 45682819, 45682844-45682852, 45682857-45682973, 45682986-45682993, 45683009-45683010, 45683013-45683023, 45683029-45683030, 45683034-45683047, 45683050-45683054, 45683057-45683062, 45683066-45683074, 45683084-45683100
545ERCC2190.9903635567236122228345856396-45856397, 45867003-45867009, 45867029-45867030, 45867034, 45867038, 45867046, 45867300-45867307
546OPA3190.977900552486191254346032386-46032388, 46032393-46032395, 46032404-46032408, 46032533
547SIX5190.7454954954955565222046268983, 46269313, 46270143-46270147, 46270152-46270153, 46270160-46270162, 46270177-46270186, 46270368-46270370, 46271303, 46271306-46271307, 46271310, 46271314, 46271348, 46271354, 46271462-46271464, 46271467-46271474, 46271498, 46271537-46271612, 46271618-46271663, 46271688-46271693, 46271710-46272102
548DMPK190.91058201058201169189046273779-46273803, 46273892, 46274247, 46274268-46274274, 46274284-46274287, 46274293, 46281065, 46285462-46285463, 46285473-46285474, 46285486-46285610
549FKRP190.67271505376344487148847258708-47258711, 47258809-47258820, 47258832, 47259023, 47259040, 47259067-47259070, 47259079-47259085, 47259097-47259135, 47259147, 47259150-47259153, 47259159-47259166, 47259170-47259174, 47259180-47259189, 47259198, 47259229-47259302, 47259313, 47259315, 47259348-47259570, 47259616-47259620, 47259622-47259626, 47259630-47259677, 47259727, 47259731, 47259747-47259753, 47259756-47259758, 47259781, 47259784, 47259821, 47260047, 47260052-47260058, 47260077-47260078, 47260081-47260087
550CRX190.964444444444443290048342625-48342656
551DBP190.6298568507157536297849138837-49139139, 49139150-49139190, 49139222, 49140194-49140208, 49140217-49140218
552BCAT2190.997455470737913117949303069-49303070, 49314258
553MED25190.94875222816399115224450321620-50321626, 50333162-50333174, 50333177, 50333180, 50333193, 50333775, 50333777-50333780, 50334057, 50334060, 50334088-50334095, 50334102-50334133, 50334137, 50334143-50334144, 50338414-50338415, 50338833-50338862, 50339044, 50339491-50339493, 50339522-50339525, 50339529-50339530
554PNKP190.9457215836526285156650364872, 50364875-50364882, 50364899-50364900, 50365135-50365138, 50365351, 50365527, 50365628-50365646, 50365814-50365857, 50365951-50365955
555MYH14190.97299950908198165611150713650-50713673, 50713686, 50713698-50713699, 50713725-50713728, 50728842-50728845, 50762432-50762436, 50764766, 50766582-50766585, 50766588, 50770146-50770147, 50770218-50770253, 50770259-50770260, 50771515-50771554, 50779427-50779430, 50780133-50780156, 50805024-50805034
556KCNC3190.553210202286721016227450823503-50823597, 50823603-50823604, 50823927, 50823930, 50823935, 50824005-50824009, 50824011-50824012, 50824028-50824031, 50826289-50826294, 50826300, 50826343-50826357, 50826364-50826368, 50826402, 50826407-50826412, 50826433-50826463, 50826471, 50826479, 50826492, 50826555-50826560, 50826631, 50826645-50826653, 50831470-50831769, 50831785-50832059, 50832094-50832339
557KLK4190.921568627450986076551412522-51412527, 51412539-51412543, 51412558, 51412616-51412623, 51412631-51412670
558NLRP12190.9883866917765237318654312869-54312872, 54313623-54313637, 54313661-54313665, 54313671-54313674, 54313857-54313859, 54314387-54314392
559PRKCG190.82999044890162356209454385749-54385878, 54385905-54385918, 54392911-54392961, 54392964, 54392971-54392976, 54393140-54393271, 54401297-54401309, 54401315-54401319, 54401834, 54410012-54410014
560PRPF31190.997333333333334150054627879, 54627883, 54627890-54627891
561TSEN34190.8617363344051412993354695216-54695246, 54695261-54695304, 54695313-54695318, 54695324-54695336, 54695340-54695343, 54695352, 54695356, 54695359-54695361, 54695365-54695367, 54695377-54695378, 54695381, 54695406-54695412, 54695748-54695754, 54696080-54696085
562NLRP7190.997752087347467311455451167-55451173
563TNNT1190.896070975918888278955648560-55648573, 55648580, 55652268, 55652271, 55652274, 55652297-55652301, 55652305-55652321, 55656915-55656917, 55656920-55656925, 55656930, 55657802-55657821, 55657827-55657834, 55658062-55658065
564TNNI3190.865353037766838260955667575-55667581, 55667591, 55667602, 55667604-55667629, 55667633-55667640, 55667651, 55667664-55667674, 55667680, 55667682-55667695, 55667698-55667700, 55667972-55667973, 55668003-55668007, 55668418-55668419
565TPO20.9336188436830818628021480858-1480859, 1480863-1480867, 1480877, 1480880-1480883, 1480903-1480919, 1480923, 1480929-1480934, 1480940-1480941, 1480957-1481014, 1481021-1481027, 1481056-1481062, 1481075-1481081, 1481091-1481099, 1481142-1481148, 1481158-1481159, 1481193-1481198, 1481204-1481245, 1481264, 1481272, 1491751
566RPS720.87863247863248715853623204-3623274
567KLF1120.9707602339181345153910183844-10183885, 10188183-10188185
568LPIN120.9955106621773312267311945212-11945223
569MYCN20.72616487455197382139516082380-16082384, 16082402-16082407, 16082413, 16082460, 16082474, 16082479, 16082539-16082898, 16082909-16082910, 16082921-16082922, 16085847-16085849
570MATN320.88843258042437163146120212177, 20212183, 20212190-20212192, 20212203-20212210, 20212215-20212217, 20212234-20212246, 20212259-20212392
571APOB20.99306164183465951369221265264-21265268, 21265279, 21265292, 21265298-21265303, 21266736-21266817
572POMC20.8258706467661714080425384072-25384078, 25384125-25384159, 25384168-25384212, 25384244, 25384256, 25384432-25384439, 25384453-25384495
573HADHA20.998254799301924229226416482-26416485
574HADHB20.998596491228072142526508338, 26508342
575OTOF20.95195195195195288599426684782, 26685012-26685032, 26693550-26693577, 26696907, 26696911, 26696962, 26696968-26696970, 26697382-26697396, 26697406-26697412, 26697414-26697416, 26697482-26697485, 26697521, 26697537, 26699004-26699014, 26699126, 26699160-26699163, 26699173, 26699185, 26699759-26699911, 26700067, 26700092, 26700100-26700105, 26700121, 26700128-26700133, 26700138-26700148, 26712593-26712596
576EIF2B420.9908088235294115163227592321-27592332, 27592862-27592863, 27592866
577C2orf7120.9919834497026131386729293535-29293537, 29293624, 29293635-29293642, 29293650-29293657, 29293660-29293663, 29294015-29294017, 29294048, 29294100, 29294105-29294106
578ALK20.9917746247172540486329451750-29451768, 29451778-29451779, 29451782-29451784, 29451803, 30143243, 30143424, 30143440, 30143444-30143445, 30143488-30143489, 30143499-30143506
579XDH20.9965017491254414400231572966-31572979
580SRD5A220.969816272965882376231754415-31754427, 31805883-31805886, 31805889-31805891, 31805955-31805957
581SPAST20.80064829821718369185132288942-32288972, 32288979-32289315, 32340846
582CYP1B120.8921568627451176163238301926-38301939, 38301960-38302011, 38302028-38302031, 38302050-38302057, 38302141-38302142, 38302146-38302151, 38302160-38302199, 38302230-38302241, 38302316-38302352, 38302418
583SOS120.9967516241879113400239222503-39222514, 39233660
584ABCG520.9754601226993948195644058916-44058923, 44058948-44058950, 44058960-44058976, 44058980-44058981, 44058987-44058993, 44059099-44059102, 44059114, 44059206-44059209, 44059212, 44065752
585ABCG820.989119683481722202244102348-44102369
586LRPPRC20.9909199522102738418544222986-44222991, 44222996-44223007, 44223010, 44223029-44223035, 44223045-44223047, 44223075, 44223078-44223085
587SLC3A120.999028182701652205844502833, 44502865
588SIX320.8398398398398416099945169292, 45169301, 45169304-45169311, 45169326-45169386, 45169394-45169398, 45169440-45169443, 45169447-45169455, 45169497-45169512, 45169525, 45169536-45169542, 45169550-45169553, 45169577-45169582, 45169588-45169594, 45169638-45169640, 45169647-45169652, 45170031-45170033, 45170036, 45171733, 45171736, 45171744-45171750, 45171775, 45171781-45171785, 45171799, 45171802
589MCFD220.972789115646261244147132610-47132621
590EPCAM20.936507936507946094547596645-47596697, 47596706-47596711, 47601129
591MSH220.997147950089138280547630471, 47630478, 47630481-47630484, 47639648-47639649
592MSH620.93705608621112257408348010373-48010577, 48010583-48010632, 48027676, 48027679
593LHCGR20.9666666666666770210048982650-48982678, 48982686-48982704, 48982739, 48982747-48982751, 48982755, 48982758, 48982762-48982764, 48982782-48982792
594FSHR20.9937739463601513208849217709-49217721
595NRXN120.9778531073446398442551254670, 51254769-51254782, 51254788-51254798, 51254916, 51254929, 51254966-51254969, 51255060-51255064, 51255073-51255080, 51255088-51255093, 51255134, 51255150, 51255153, 51255158, 51255226, 51255325, 51255329, 51255334-51255340, 51255348-51255367, 51255379, 51255388-51255394, 51255398-51255402
596EFEMP120.9905533063427814148256102153, 56102160-56102170, 56102182, 56145004
597PEX1320.9909240924092411121261272923-61272932, 61272939
598ATP6V1B120.9909208819714714154271163085-71163091, 71163098-71163101, 71163104, 71163133, 71188063
599DYSF20.9962264150943424636071693973-71693977, 71694017, 71694021-71694030, 71694034, 71753470-71753476
600SPR20.7086513994910922978673114562-73114724, 73114732, 73114735, 73114738, 73114745, 73114752-73114756, 73114771-73114803, 73114809, 73114811-73114812, 73114815, 73114819, 73114826-73114829, 73114839-73114853
601ALMS120.990003198976331251250473612997-73613074, 73613083-73613106, 73613249, 73613259, 73613272-73613276, 73613306, 73676914-73676919, 73786259, 73827996-73828002, 73828342
602SLC4A520.9868189806678445341474460599-74460625, 74479360-74479371, 74513022-74513027
603DCTN120.996351316132414383774590484-74590485, 74590515-74590521, 74593683, 74596533, 74598778-74598780
604MOGS20.9892601431980927251474688909-74688914, 74689005-74689010, 74692103-74692104, 74692188, 74692194, 74692261, 74692265, 74692273-74692274, 74692351-74692357
605HTRA220.88380537400145160137774757135-74757158, 74757176-74757197, 74757203-74757214, 74757217, 74757233-74757255, 74757259-74757266, 74757335-74757341, 74757352-74757374, 74757377-74757379, 74757384-74757387, 74757419, 74757423-74757449, 74757457-74757460, 74757573
606SUCLG120.9836695485110517104184686306, 84686320-84686327, 84686335-84686342
607GGCX20.9776021080368951227785788005-85788053, 85788522, 85788526
608SFTPB20.998254799301922114685889178, 85895291
609REEP120.947194719471953260686564602-86564633
610EIF2AK320.96926290659505103335188926597, 88926603, 88926606-88926612, 88926616, 88926621-88926624, 88926633-88926653, 88926662-88926663, 88926669-88926676, 88926682, 88926694-88926695, 88926705, 88926709-88926717, 88926730-88926732, 88926737-88926741, 88926751-88926758, 88926764-88926792
611RPIA20.99786324786325293688991288, 88991292
612TMEM12720.8270571827057212471796930888-96930911, 96930921-96930926, 96930992, 96930995, 96931007-96931058, 96931066-96931093, 96931108-96931119
613SNRNP20020.998908126657317641196955086-96955092
614ZAP7020.93655913978495118186098340612, 98340710-98340713, 98340761-98340798, 98340816-98340867, 98340890-98340892, 98341676, 98349653-98349661, 98349667-98349675, 98350986
615RANBP220.977674418604652169675109336121-109336126, 109352023-109352029, 109357110-109357116, 109363167-109363195, 109368045-109368080, 109369588-109369615, 109374947-109374959, 109378582-109378616, 109383283-109383301, 109383768-109383798, 109397758, 109398832-109398835
616NPHP120.9975417895771952034110886767-110886769, 110917750-110917751
617MERTK20.979633000112656313-112656373, 112786426, 112786429
618GLI220.868725057760976254761121554902, 121555000-121555005, 121555013, 121555019-121555026, 121708985-121708986, 121709001-121709006, 121709014, 121726290-121726306, 121726331-121726368, 121726447, 121728016, 121728024, 121728030, 121728147, 121728153, 121728164, 121729535-121729542, 121745796, 121745802-121745808, 121745818-121745826, 121745829, 121745832, 121745835, 121746073-121746537, 121746547-121746557, 121746565, 121746575-121746576, 121746624-121746625, 121746630, 121746635, 121746652-121746660, 121746677, 121746684-121746688, 121746708, 121746765, 121746863-121746865, 121746868-121746872, 121746956, 121747667
619BIN120.98484848484848271782127808472, 127808745-127808748, 127808810, 127811579-127811583, 127816606-127816616, 127816628-127816630, 127816638-127816639
620PROC20.834054834054832301386128178880, 128178891-128178927, 128180493-128180517, 128180610-128180747, 128180869-128180872, 128180882-128180896, 128180921, 128180928, 128180942, 128180946-128180952
621CFC120.69642857142857204672131279075, 131279619, 131279645, 131279664-131279666, 131279669-131279670, 131279696, 131279699-131279700, 131280363-131280477, 131280765-131280805, 131280834-131280836, 131280844, 131280847, 131285286-131285316, 131285377
622ZEB220.97942386831276753645145147386, 145161665, 145274845-145274917
623NEB20.997847201361774319974152417757-152417776, 152422020-152422021, 152422032, 152432803-152432805, 152432817-152432819, 152432861, 152432863-152432867, 152496990-152496996, 152563417
624CACNB420.9948816378758881563152955474-152955481
625SCN2A20.99601196410768246018166170457-166170468, 166171984, 166171989, 166171995-166172000, 166172004, 166201093, 166201097, 166237603
626GALNT320.9963196635120971902166611517-166611523
627SCN1A20.9991662497915655997166866269-166866271, 166895933-166895934
628SCN9A20.9991573980451655934167085352, 167089943, 167133705, 167145149, 167168103
629SLC25A1220.99509081983309102037172650272-172650275, 172750719-172750724
630ITGA620.944444444444441823276173292517-173292698
631CHN120.98623188405797191380175869622-175869640
632HOXD1320.661821705426363491032176957619-176957837, 176957845-176957849, 176957857-176957858, 176957864-176957866, 176957869-176957871, 176957876-176957888, 176957896-176957912, 176957922, 176957936-176957995, 176958005-176958023, 176958144-176958150
633AGPS20.97015680323723591977178257599-178257641, 178257651, 178257657, 178257661, 178257754, 178346807, 178346810-178346811, 178346818-178346822, 178346827, 178346830-178346832
634PRKRA20.9596602972399238942179315693-179315697, 179315706-179315738
635DFNB5920.9990557129367311059179318148
636TTN20.9991620780464484100248179392314-179392316, 179392323-179392361, 179419434-179419438, 179425472, 179445109-179445120, 179510693, 179510696-179510701, 179523793-179523802, 179583891-179583896, 179659676
637CERKL20.9981238273921231599182521513, 182521517, 182521615
638COL3A120.98204953419677794401189854140, 189860851-189860882, 189860897-189860903, 189861170-189861171, 189861177-189861182, 189861191, 189861207, 189867065, 189867763-189867764, 189870161, 189871112-189871120, 189871663-189871678
639COL5A220.99555555555556204500189909949-189909950, 189910566, 189910590-189910591, 189910608, 189916091, 189916919-189916926, 189916937, 189929342-189929344, 189932786
640PMS120.9996427295462712799190732560
641STAT120.99112294718154202253191859799-191859801, 191859828, 191859880-191859888, 191859895-191859896, 191859900-191859904
642CASP1020.997450605481241569202050773-202050774, 202068453-202068454
643ALS220.98954563731403524974202609087-202609133, 202626389-202626393
644BMPR220.99197946743664253117203242228, 203242231, 203242256-203242259, 203242263, 203242266, 203421152-203421168
645ACADL20.996906419180241293211082709-211082710, 211089911, 211089922
646CPS120.9986675549633664503211455586-211455587, 211455590, 211540506-211540508
647ABCA1220.99512069851053387788215797412, 215815610-215815612, 215815620, 215815625-215815630, 215854332, 215876848-215876859, 215890459-215890472
648SMARCAL120.98150087260035532865217297547-217297565, 217315623-217315626, 217347561-217347590
649PNKD20.98704663212435151158219204557-219204559, 219204563, 219204568-219204571, 219204575-219204579, 219204584, 219204848
650BCS1L20.98174603174603231260219526576-219526596, 219527335-219527336
651WNT10A20.874800637958531571254219745718, 219745724-219745770, 219745773-219745783, 219745796-219745824, 219757539-219757543, 219757551-219757563, 219757571-219757580, 219757596-219757608, 219757614-219757622, 219757648-219757655, 219757663-219757665, 219757723, 219757734, 219757779, 219757890-219757892, 219757897, 219757900
652DES20.853503184713382071413220283185-220283187, 220283218-220283219, 220283224-220283228, 220283241, 220283246-220283254, 220283258-220283259, 220283274-220283312, 220283321-220283323, 220283329-220283339, 220283353-220283368, 220283400-220283453, 220283585-220283626, 220283700-220283706, 220283708-220283709, 220283713-220283714, 220283718-220283719, 220283724-220283726, 220283732-220283735
653OBSL120.8209453523106710195691220416256-220416257, 220416261-220416298, 220416304, 220416310, 220416330, 220416337, 220416342, 220416345-220416366, 220416401-220416405, 220416408, 220416413, 220416421-220416424, 220416432-220416433, 220416436, 220416478-220416499, 220416839-220416848, 220416856-220416860, 220416865, 220416884-220416914, 220417258-220417292, 220417305-220417312, 220417315-220417319, 220417331, 220417335-220417336, 220417342-220417399, 220417412, 220417417-220417419, 220417590-220417629, 220417659, 220417714-220417717, 220417741-220417743, 220432915-220432918, 220434997, 220435000, 220435080-220435083, 220435099, 220435236, 220435239, 220435251-220435272, 220435282-220435954
654PAX320.9953886693017171518223163256-223163262
655COL4A420.99150868878357435064227886807, 227906926-227906933, 227942692, 227942696, 227954584-227954600, 227954621-227954629, 227985817-227985822
656COL4A320.974865350089771265013228029453-228029471, 228029482-228029483, 228029489-228029490, 228029494, 228029504, 228029508, 228029511-228029523, 228142248-228142250, 228142254, 228142260, 228144601-228144606, 228157958-228157965, 228162418, 228163402-228163425, 228163452-228163462, 228163476-228163507
657SLC19A320.9906103286385141491228563968-228563979, 228563983, 228563990
658CHRND20.98262548262548271554233390927-233390938, 233390943-233390957
659CHRNG20.995495495495571554233404494, 233406150-233406154, 233409572
660UGT1A120.9993757802746611602234668977
661COL6A320.9962240402769369534238261218-238261222, 238283082-238283086, 238283092, 238283100-238283105, 238283428-238283430, 238287525-238287532, 238287538, 238287542-238287544, 238303576-238303579
662AGXT20.99151823579304101179241808682, 241810791, 241816983-241816990
663D2HGDH20.89782886334611601566242674640-242674641, 242674651, 242674655-242674656, 242674664, 242674667, 242674670-242674672, 242674725, 242674754, 242674759, 242674771, 242674803, 242674868-242674869, 242674926, 242689594-242689602, 242707214-242707264, 242707278-242707284, 242707291-242707350, 242707370-242707384
664C20orf54200.9964539007092251410744354-744357, 745975
665AVP200.242424242424243754953063276-3063448, 3063623-3063824
666PANK2200.8505545826036225617133869780-3869796, 3869827-3869829, 3869897-3869899, 3869903, 3869909-3869910, 3869917-3869918, 3869922-3869981, 3869987-3869992, 3870001, 3870006-3870008, 3870014-3870020, 3870027-3870036, 3870046, 3870049, 3870053-3870055, 3870079, 3870093-3870143, 3870153-3870160, 3870189-3870195, 3870198, 3870204, 3870218-3870266, 3870272, 3870313-3870320, 3870332, 3870337, 3870368-3870374
667FERMT1200.99705014749263620346088207, 6088218, 6100085-6100088
668JAG1200.9756631118403189365710653545-10653560, 10653600, 10654098-10654115, 10654125-10654178
669C20orf7200.9633911368015438103813782137-13782140, 13782208-13782238, 13782269-13782271
670THBD200.87094907407407223172823028426-23028436, 23028967-23028970, 23029210-23029211, 23029284-23029285, 23029288, 23029293-23029316, 23029324-23029328, 23029331, 23029419-23029425, 23029433-23029453, 23029536, 23029539, 23029555-23029563, 23029567, 23029572-23029574, 23029581, 23029588-23029594, 23029601-23029606, 23029670-23029672, 23029678, 23029695-23029703, 23029707-23029708, 23029711, 23029713-23029726, 23029741-23029776, 23029826-23029836, 23029844, 23029851-23029853, 23029858, 23029865-23029868, 23029876-23029899, 23030074-23030079
671SNTA1200.83069828722003257151832031145-32031158, 32031164, 32031171-32031177, 32031183-32031186, 32031196-32031426
672GDF5200.9833997343957525150634021855-34021857, 34022209-34022211, 34022215-34022221, 34022236, 34022387, 34025113, 34025119, 34025250, 34025266-34025272
673SAMHD1200.995746943115368188135579839, 35579856, 35579878, 35579952-35579956
674HNF4A200.993684210526329142543058193-43058201
675ADA200.991758241758249109243255140, 43255143, 43280229, 43280234-43280239
676CTSA200.9933199732798910149744520242-44520251
677CD40200.99640287769784383444756969-44756970, 44757598
678SLC2A10200.996924969249695162645338376-45338379, 45354172
679SALL4200.9813409234661659316250418818-50418845, 50418853-50418883
680VAPB200.92076502732245873256964516-56964573
681STX16200.989775051124741097857244393-57244402
682GNAS200.937669376693774673857415316-57415330, 57415353-57415373, 57415689-57415696, 57415805-57415806
683GNAS200.90398201669878299311457428439-57428442, 57428717-57428719, 57429084, 57429095-57429102, 57429512-57429523, 57429526, 57429614-57429618, 57429625-57429627, 57429658-57429668, 57429687-57429694, 57429707, 57429728, 57429736-57429738, 57429746-57429753, 57429757-57429759, 57429803, 57429806, 57429818-57429875, 57429913-57429914, 57429930-57429938, 57429945, 57429948-57429950, 57429961-57429963, 57429971, 57429974-57429979, 57429995, 57430000-57430008, 57430018, 57430029-57430036, 57430050, 57430059-57430061, 57430088-57430090, 57430112, 57430118, 57430136-57430140, 57430152-57430155, 57430162, 57430169-57430174, 57430188, 57430242-57430272, 57430283-57430323, 57430331-57430354, 57430377
684EDN3200.98605299860531071757875877-57875883, 57896246-57896248
685COL9A3200.92019464720195164205561448417-61448494, 61448926-61448987, 61456332, 61456337, 61456347, 61456354, 61456365-61456373, 61461906-61461907, 61461922-61461928, 61461933, 61470102
686CHRNA4200.9416135881104110188461981084, 61981104, 61981134, 61981138, 61981157-61981159, 61981166-61981169, 61981172, 61981214-61981222, 61981226-61981236, 61981239-61981249, 61981374-61981375, 61981403, 61981446, 61981459, 61981602-61981608, 61992457-61992458, 61992461-61992513
687KCNQ2200.84688812523864401261962037997, 62038008-62038009, 62038062-62038064, 62038274-62038299, 62038535-62038540, 62038544-62038547, 62046371-62046382, 62046405-62046426, 62059742-62059769, 62076657, 62103521-62103816
688SOX18200.13679653679654997115562679519-62679535, 62679551-62679552, 62679619-62679644, 62679650, 62679655-62679660, 62679666, 62679670, 62679674, 62679678-62679680, 62679684-62679686, 62679738-62680315, 62680512-62680869
689APP210.9857328145265933231327542887, 27542896, 27542908-27542938
690BACH1210.999095431931252221130693731-30693732
691SOD1210.98709677419355646533032103-33032104, 33032121-33032123, 33032127
692IFNGR2210.9280078895463573101434775850-34775922
693RCAN1210.6679841897233225275935987059-35987310
694RUNX1210.9341649341649395144336164432-36164436, 36164446-36164474, 36164504-36164506, 36164557, 36164560, 36164606-36164607, 36164611-36164614, 36164696-36164698, 36259272, 36259298-36259306, 36259309-36259311, 36259315-36259322, 36259333-36259335, 36259351-36259357, 36259361-36259376
695HLCS210.9862448418156830218138128958-38128968, 38269348-38269363, 38309505-38309506, 38309510
696CBS210.99939613526571165644480631
697CSTB210.777777777777786629745196085-45196150
698AIRE210.78937728937729345163845705890-45706021, 45706977-45706990, 45706997-45706999, 45707002-45707004, 45712204-45712209, 45712262-45712264, 45712279, 45712876-45712891, 45712898, 45712908-45712914, 45712924-45712944, 45712970-45712977, 45712986, 45712989, 45712995-45713047, 45713756-45713762, 45713772-45713779, 45713782, 45713786-45713787, 45714284-45714297, 45714316, 45714319-45714339, 45714360-45714368, 45714371-45714381, 45716289
699ITGB2210.95584415584416102231046308608-46308647, 46308668, 46308671-46308683, 46308690-46308724, 46308751, 46308764, 46308774, 46308777-46308778, 46308803-46308810
700COL18A1210.91471984805318449526546875468-46875471, 46875476-46875479, 46875481-46875500, 46875672-46875677, 46875684-46875688, 46876208-46876211, 46876429, 46876436, 46876439, 46876529-46876562, 46876568-46876572, 46876580, 46876616, 46876675-46876680, 46876696-46876699, 46876709-46876722, 46888637, 46888645-46888658, 46900715, 46906775-46906792, 46906803-46906841, 46906872-46906881, 46909408-46909435, 46910207-46910213, 46910248, 46910251, 46911188-46911189, 46911209-46911228, 46914459-46914485, 46924414-46924419, 46924426-46924434, 46925117-46925165, 46925296, 46925307, 46929427-46929430, 46929441, 46929451-46929456, 46929458-46929467, 46930031-46930071, 46930083-46930089, 46930092, 46930101, 46930104-46930106, 46930143-46930149, 46930152, 46930155-46930175
701COL6A1210.94493035309362170308747401773-47401807, 47401810, 47401822-47401826, 47407532, 47410172-47410198, 47410294-47410336, 47410928-47410934, 47419575, 47419600-47419606, 47420673, 47422314-47422315, 47423399-47423400, 47423424-47423446, 47423483-47423489, 47423502-47423504, 47423508, 47423511-47423514
702COL6A2210.94542483660131167306047531400, 47531968-47531970, 47531976, 47531979-47531984, 47532188, 47545699-47545729, 47545822, 47545969, 47551994-47552042, 47552054-47552090, 47552210-47552211, 47552280-47552290, 47552385-47552391, 47552395, 47552401, 47552410-47552423
703COL6A2210.888888888888893834247552210-47552211, 47552280-47552290, 47552385-47552391, 47552395, 47552401, 47552410-47552423, 47552489-47552490
704FTCD210.89852398523985165162647565331-47565351, 47565365, 47565389-47565390, 47565394, 47565417-47565440, 47565473-47565474, 47565479-47565481, 47565484, 47565487-47565492, 47565732-47565792, 47565814-47565846, 47571584, 47571597, 47571603, 47571624-47571629, 47574207
705PCNT210.983218459694341681001147744143-47744183, 47744186-47744190, 47754449, 47766113, 47783714-47783741, 47783799, 47786658, 47786664, 47811105, 47811193-47811200, 47817994-47817997, 47818002-47818003, 47818009-47818013, 47831294-47831296, 47831309, 47831316, 47831319-47831328, 47831373, 47831457-47831458, 47831711-47831714, 47831719, 47831727, 47831776-47831779, 47836429, 47836710, 47841929-47841933, 47841941-47841945, 47851650-47851651, 47851664-47851667, 47851748, 47851835-47851843, 47858190-47858191, 47858194, 47862466-47862471, 47863757-47863760
706PEX26220.984749455337691491818561196, 18561201, 18561210-18561211, 18561231, 18561239-18561247
707PRODH220.84803105934554274180318905879-18905902, 18908891, 18908900-18908901, 18908904, 18908910, 18908917-18908923, 18908928-18908935, 18923528-18923575, 18923619-18923800
708GP1BB220.1239935587761754462119711377-19711379, 19711386-19711395, 19711403-19711933
709TBX1220.34341397849462977148819748428-19748803, 19753288-19753301, 19753311-19753321, 19753337-19753348, 19753425-19753525, 19753912-19754374
710SMARCB1220.91278065630397101115824129357-24129449, 24175815-24175818, 24175827-24175830
711UPB1220.993939393939397115524919644, 24919665-24919668, 24919740-24919741
712HPS4220.9857954545454530211226849268-26849289, 26859955-26859960, 26860318-26860319
713CHEK2220.94264622373651101176129083906-29083930, 29083946-29083965, 29085135-29085143, 29085165-29085189, 29090020-29090041
714NF2220.998881431767342178830067856-30067857
715TCN2220.996884735202494128431003319-31003321, 31003351
716TIMP3220.98113207547171263633198024-33198027, 33198031-33198032, 33198049, 33198057, 33198105-33198108
717LARGE220.9898723029502423227133700333-33700336, 33712089-33712107
718MYH9220.99881013088567588336681961, 36685236-36685237, 36688107-36688108, 36688114, 36718548
719TRIOBP220.95688926458157306709838109236, 38109250, 38109257, 38109337, 38111862, 38119695-38119724, 38119742-38119774, 38119795-38119815, 38119856-38119905, 38119948-38119982, 38119993-38119999, 38120037-38120068, 38120150-38120156, 38120193-38120199, 38120297-38120303, 38120426-38120450, 38120482-38120486, 38121453, 38121885, 38121926, 38121934-38121942, 38121953-38121961, 38121972-38121974, 38122001-38122004, 38122045, 38122122-38122128, 38122442, 38122462, 38129396, 38136937, 38136944, 38165176
720SOX10220.90792291220557129140138369933, 38369942, 38379398-38379401, 38379480, 38379551, 38379661-38379680, 38379684, 38379687-38379695, 38379699, 38379702-38379791
721PLA2G6220.99795501022495148938508549
722PLA2G6220.991325898389121242138508549, 38536059-38536078
723EP300220.9976535541752917724541546104-41546105, 41546131-41546138, 41546149, 41572898-41572901, 41572906-41572907
724TNFRSF13C220.5081081081081127355542322132-42322141, 42322147-42322152, 42322159-42322163, 42322170-42322177, 42322199-42322335, 42322642-42322715, 42322735-42322740, 42322749-42322750, 42322753-42322777
725CYB5R3220.969094922737312890643027413-43027419, 43045301-43045321
726ATXN10220.92016806722689114142846067944-46068057
727TRMU220.9707740916271737126646731662-46731675, 46731699-46731700, 46731708-46731719, 46731722-46731729, 46751362
728ALG12220.9788684389911431146750297994-50298022, 50303709, 50307377
729MLC1220.9268077601410983113450502463-50502495, 50502525-50502526, 50502576-50502618, 50502624-50502627, 50523311
730SCO2220.99875156054931180150962755
731TYMP220.6128364389234561144950964199-50964347, 50964430-50964570, 50964675-50964905, 50965016, 50965037-50965044, 50965061-50965062, 50965119, 50965122, 50965129, 50965133-50965134, 50965141-50965155, 50965163-50965167, 50967634, 50967650, 50967655, 50967683
732ARSA220.9238845144357116152451063637, 51063640, 51063644-51063648, 51063656, 51063662-51063674, 51063696-51063697, 51063711-51063714, 51063717-51063720, 51063753-51063755, 51063758-51063766, 51063790-51063796, 51063845-51063848, 51063855-51063860, 51063869-51063877, 51063881-51063882, 51064476, 51066153-51066196
733SHANK3220.652173913043481824524451113070-51113132, 51113476-51113509, 51113596-51113602, 51113630, 51133360, 51133365, 51135690-51135715, 51135951-51136143, 51144561-51144562, 51158612-51158636, 51158646-51158652, 51158677-51158700, 51158718-51159288, 51159299-51159343, 51159352-51159393, 51159410-51159421, 51159430-51159517, 51159531-51159534, 51159543, 51159580, 51159590-51159648, 51159660, 51159664-51159666, 51159669-51159670, 51159673, 51159706-51159707, 51159730-51159733, 51159781-51159793, 51159879-51159884, 51159887-51159889, 51159915, 51159929-51159971, 51160242, 51160297, 51160308, 51160609-51160617, 51160857, 51169149-51169152, 51169154-51169159, 51169173-51169196, 51169200-51169210, 51169214-51169220, 51169268-51169740
734SUMF130.99911111111111111254458890
735ITPR130.997417926964222181334687342-4687345, 4726853, 4878495-4878510
736FANCD230.9950181159420322441610107110-10107116, 10107165-10107171, 10114941-10114947, 10132055
737VHL30.99376947040498464210183739-10183741, 10183853
738WNT7A30.996190476190484105013860618-13860619, 13896257-13896258
739XPC30.997166135317048282314187650, 14190412, 14200116-14200120, 14220036
740TGFBR230.997751545812254177930648405-30648407, 30648432
741GLB130.9631268436578275203433138503-33138577
742CRTAP30.6318407960199444120633155572-33156012, 33156028, 33156035, 33174156
743MLH130.999559665345661227137067381
744SCN5A30.999320767532694588938648187-38648190
745ABHD530.955238095238147105043732485-43732531
746TMIE30.6884531590413914345946742860-46742964, 46742978-46743005, 46743019, 46743022, 46743030, 46743044-46743050
747TMIE30.919320594479833847146742978-46743005, 46743019, 46743022, 46743030, 46743044-46743050
748TREX130.99819819819822111048508035, 48508935
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896TNXB60.985544818917431841272932009631-32009664, 32010123-32010130, 32010269-32010275, 32010569-32010575, 32010728-32010736, 32010996, 32011235, 32011248, 32011636-32011642, 32012269-32012318, 32012330-32012336, 32012798-32012799, 32012984-32012990, 32017877-32017884, 32025971-32025973, 32032603-32032612, 32032631-32032635, 32032639-32032641, 32035468, 32037432, 32037445, 32056660-32056661, 32064126-32064130, 32064141, 32064583, 32064680, 32065134
897HLA-DQA160.89843757876832605274, 32605293-32605298, 32609126, 32609195, 32609199, 32609207, 32609213-32609244, 32609247, 32609253-32609255, 32609264, 32609271, 32609278-32609279, 32609286, 32609299, 32609312, 32609855, 32610387-32610406, 32610428, 32610453, 32610461
898HLA-DQB160.5992366412213731578632629124-32629173, 32629190-32629213, 32629224-32629234, 32629802, 32629847-32629850, 32629854, 32629868, 32629874-32629885, 32629889, 32629904-32629908, 32629963, 32632575-32632658, 32632674-32632740, 32632745, 32632748-32632753, 32632764, 32632774-32632787, 32632790, 32632795, 32632798-32632806, 32632817-32632822, 32632825, 32632829, 32632832, 32634283-32634286, 32634313, 32634365, 32634369, 32634373, 32634382-32634384
899COL11A260.95164075993092252521133138106-33138153, 33139517, 33139523, 33139536, 33139834-33139850, 33140066-33140095, 33140102-33140140, 33140147-33140155, 33140324-33140361, 33140367-33140411, 33141497-33141503, 33141657-33141663, 33141686-33141689, 33153528, 33159952, 33159964-33159966
900SYNGAP160.89434523809524426403233388042-33388108, 33393575-33393680, 33400010, 33400560, 33405794, 33405822-33405823, 33410905-33410906, 33410909, 33410975, 33410986-33410992, 33410996, 33411150, 33411158-33411161, 33411166, 33411182, 33411195, 33411226, 33411308-33411309, 33411314, 33411317-33411318, 33411462-33411468, 33411479-33411482, 33411489-33411698, 33419624
901FANCE60.9211669770329127161135420323-35420431, 35420485, 35420490, 35420494, 35420551-35420564, 35425360
902TULP160.9828115408225928162935478654, 35479438, 35479540, 35479976-35479977, 35480005-35480026, 35480456
903MOCS160.9900575614861319191139874263-39874269, 39874728-39874734, 39883970-39883974
904TREM260.99422799422799469341129196-41129199
905GUCA1B60.9983416252073160342156340
906PRPH260.993275696445737104142672167-42672170, 42672295-42672297
907PEX660.95752633367312125294342946435-42946437, 42946446, 42946494-42946496, 42946520-42946557, 42946564, 42946567, 42946583-42946585, 42946588, 42946592, 42946596-42946601, 42946604-42946605, 42946621-42946623, 42946632, 42946642, 42946650-42946661, 42946666-42946677, 42946679, 42946685-42946689, 42946694, 42946700-42946705, 42946713-42946719, 42946724, 42946731-42946739, 42946746-42946751
908RSPH960.937424789410355283143612854, 43612857-43612876, 43612879, 43612891-43612892, 43612914-43612916, 43612931-43612938, 43612950-43612954, 43612963, 43612988, 43612992-43612995, 43613018, 43613048-43613049, 43613053-43613055
909RUNX260.85504469987229227156645390330-45390535, 45399647-45399656, 45399667-45399677
910CD2AP60.998958333333332192047580209-47580210
911MUT60.9587217043941493225349409562-49409620, 49409634-49409657, 49409684, 49421431-49421435, 49421443-49421446
912PKHD160.99893660531697131222551497432-51497433, 51893067-51893069, 51893073-51893074, 51893077-51893082
913EYS60.998198198198217943564791894-64791895, 64940606, 65149133-65149136, 65523356, 65523381-65523383, 65523397-65523402
914LMBRD160.9753542821934740162370410730, 70506727-70506765
915COL9A160.999638467100511276670981381
916RIMS160.96593817680646173507972596746-72596767, 72596796, 72678715, 72889512-72889527, 72892087-72892088, 72892091, 72892288, 72892293, 72892297-72892304, 72892307, 72892313-72892315, 72892327-72892332, 72892350-72892395, 72892413, 72892418-72892434, 72892442, 72892444-72892451, 72892486-72892489, 72892514-72892522, 72892525, 72892528-72892529, 72892540-72892550, 72892597, 72892813, 72892838, 73001678, 73108661, 73108787-73108791
917SLC17A560.9361559139784995148874331649, 74363516-74363609
918MYO660.9966303784344213385876589819, 76589829, 76602381, 76602389, 76602403, 76623807, 76623810, 76623816-76623821
919LCA560.999522445081181209480203434
920BCKDHB60.9796437659033124117980881048-80881049, 80881052, 80881082-80881102
921NDUFAF460.971590909090911552897339084-97339092, 97339098-97339103
922SIM160.9982616253802742301100841633, 100896032-100896034
923SEC6360.956197985107311002283108279114-108279213
924OSTM160.90945273631841911005108395567-108395608, 108395616-108395628, 108395643, 108395745-108395752, 108395758-108395759, 108395763-108395764, 108395782-108395797, 108395810, 108395813, 108395816, 108395836-108395839
925FIG460.9970631424375982724110081478-110081481, 110086266-110086269
926COL10A160.97161037689672582043116441747, 116442256-116442257, 116442272-116442276, 116442282, 116442342-116442379, 116442393-116442399, 116442762, 116443074-116443076
927RSPH4A60.99116689911669192151116938373-116938374, 116938385-116938392, 116938434-116938442
928GJA160.9930374238468281149121768922-121768928, 121769103
929LAMA260.99583466837552399363129513888-129513889, 129513906-129513907, 129513931, 129635877-129635879, 129635889-129635897, 129635906-129635910, 129670471, 129670476, 129674410-129674415, 129691056, 129759797, 129759801-129759806, 129759816
930ENPP160.953923686105111282778132129176-132129284, 132186066-132186070, 132203491-132203495, 132203544, 132203565-132203572
931EYA460.99010416666667191920133767848-133767852, 133767858-133767863, 133783596-133783603
932AHI160.99582289055973153591135644379-135644391, 135759532-135759533
933PEX760.9681069958847731972137143816-137143821, 137143827-137143829, 137143856-137143857, 137143896-137143899, 137143905-137143907, 137143921-137143933
934IFNGR160.9979591836734731470137524699-137524701
935PEX360.9919786096256791122143792106, 143792113-143792116, 143792121-143792123, 143792126
936STX1160.87731481481481106864144507908-144507941, 144507996-144508032, 144508363, 144508371-144508384, 144508393-144508402, 144508581-144508584, 144508587, 144508593-144508597
937EPM2A60.71787148594378281996146056334-146056614
938SYNE160.9947336515874813926394152454411-152454417, 152454545-152454546, 152536161, 152545799, 152599293-152599297, 152599308-152599315, 152599339-152599341, 152646286, 152651605-152651618, 152702462, 152725395-152725444, 152751783-152751801, 152757105-152757113, 152763303, 152774726, 152774735-152774738, 152774844-152774855
939PARK260.98497854077253211398161969940-161969947, 161969959-161969962, 161969965-161969973
940TBP60.9343137254902671020170871025-170871030, 170871036-170871067, 170871069-170871070, 170871072-170871073, 170871082, 170871084-170871095, 170871098-170871109
941LFNG70.6587719298245638911402559496-2559809, 2559817-2559827, 2559830, 2559836, 2559848-2559855, 2559877-2559878, 2559888, 2564890-2564891, 2565102-2565129, 2566018-2566019, 2566022-2566040
942PMS270.991116261104672325896013045-6013052, 6026999-6027005, 6029449, 6045523-6045529
943TWIST170.405582922824336260919156398, 19156496, 19156548, 19156558-19156600, 19156608-19156612, 19156634-19156944
944DNAH1170.99624226348364511357221582893-21582916, 21583032-21583034, 21583047-21583049, 21583055, 21583198, 21630580-21630582, 21630629-21630639, 21630926, 21630933-21630936
945DFNA570.9932930918846410149124742428-24742435, 24742439, 24758799
946HOXA170.994047619047626100827135317-27135319, 27135385, 27135399-27135400
947HOXA1370.52185089974293558116727238907, 27239078-27239122, 27239171, 27239176-27239179, 27239190-27239696
948GARS70.997747747747755222030634582, 30634586-30634587, 30634705, 30634710
949RP970.7717717717717715266633148833-33148984
950BBS970.999624624624621266433303946
951TXNDC370.999434069043581176737916536
952GLI370.96479021716213167474342005151-42005158, 42005206, 42005250-42005251, 42005272, 42005337, 42005522-42005536, 42005549-42005618, 42005624, 42005649, 42005652-42005658, 42005667-42005679, 42005684, 42005690-42005692, 42005721, 42005732, 42005789, 42005838, 42005849-42005855, 42005900-42005901, 42005943-42005944, 42005947-42005951, 42005957-42005958, 42005961-42005962, 42006082-42006084, 42006102-42006112, 42006116, 42088222-42088224, 42088227
953PGAM270.99737532808399276244105013-44105014
954CCM270.975280898876433133545039933-45039962, 45113116, 45113122-45113123
955DDC70.9993069993071144350597005
956GRB1070.995518207282918178550674071-50674078
957EGFR70.96394164602257131363355086971-55087058, 55219031-55219035, 55220273-55220278, 55220282, 55220286-55220291, 55220300-55220316, 55240797-55240804
958GUSB70.999488752556241195665447049
959ASL70.9770609318996432139565551766, 65554078-65554084, 65554097-65554098, 65554108-65554119, 65554137-65554139, 65554142, 65554146, 65554160-65554162, 65554282, 65554285
960KCTD770.8344827586206914487066094052-66094195
961SBDS70.98804780876494975366456158-66456166
962NCF170.950303030303034182572639982-72639990, 72640033-72640039, 72644233, 72648669-72648675, 72648734-72648750
963ELN70.9659770114942574217573442524-73442588, 73466297, 73471042-73471043, 73471988, 73471992, 73480274-73480277
964NCF170.83631713554987192117374193665-74193671, 74202352, 74202414-74202432, 74202903-74202923, 74202951-74203048, 74203383-74203386, 74203403-74203444
965POR70.94077337249143121204375614197-75614250, 75614261-75614273, 75614428-75614434, 75614443-75614489
966HSPB170.949838187702273161875932089, 75932230-75932231, 75932249, 75932276-75932285, 75932296-75932309, 75932358-75932360
967HGF70.9935985368084114218781399249-81399250, 81399256, 81399264-81399271, 81399285-81399287
968AKAP970.99846468781986181172491609628-91609629, 91630253, 91630256, 91630268, 91674385, 91714899-91714900, 91714909-91714911, 91732086-91732092
969PEX170.9942886812045722385292157624-92157625, 92157634-92157635, 92157646-92157650, 92157661-92157666, 92157677-92157679, 92157703-92157706
970COL1A270.9885393806388747410194027701-94027708, 94030879-94030885, 94041936-94041937, 94049552, 94049565, 94049714, 94049920-94049944, 94049948, 94058742
971SGCE70.9682890855457243135694228087, 94248096, 94252664-94252666, 94252669, 94259062-94259064, 94285305, 94285344-94285373, 94285379-94285381
972SLC25A1370.999015263417042203195751297, 95799374
973TFR270.97007481296758722406100218658-100218660, 100224431-100224433, 100224514-100224524, 100224972-100224978, 100224981, 100224990-100224993, 100228600, 100228626, 100230668-100230669, 100230698-100230700, 100231078-100231081, 100231136, 100238628-100238651, 100238723-100238727, 100239112, 100239124
974RELN70.995663486556814510377103155705, 103191626-103191628, 103236987, 103244845-103244846, 103629692-103629693, 103629696-103629709, 103629715-103629722, 103629735-103629741, 103629763-103629765, 103629800-103629803
975SLC26A470.9961587708066692343107323947-107323951, 107323959-107323962
976SLC26A370.99433551198257132295107432322, 107432333-107432342, 107432356-107432357
977IFRD170.98451327433628211356112090797-112090800, 112090806, 112090814, 112090818-112090832
978CFTR70.97209092955211244443117120185, 117182162, 117188713-117188742, 117188760-117188800, 117188842-117188877, 117235000, 117235003, 117235008, 117235011-117235016, 117235055, 117235064-117235067, 117251690
979AASS70.9960445882776112781121755178, 121755185-121755191, 121769451, 121769552-121769553
980IMPDH170.886111111111112051800128045824-128045846, 128045855-128045861, 128045871-128045872, 128045884-128045885, 128045895-128045919, 128049810-128049955
981FLNC70.98826118855466968178128470711-128470712, 128470830, 128470838, 128470852-128470915, 128470942, 128471013-128471025, 128477229, 128477282-128477283, 128477288-128477295, 128482285-128482286, 128492773
982ATP6V0A470.98454221165279392523138394373-138394382, 138394385-138394393, 138394396-138394402, 138394412-138394418, 138394427-138394430, 138394489, 138394537
983BRAF70.98392003476749372301140494198, 140494205, 140624406-140624407, 140624410, 140624413-140624435, 140624469, 140624483-140624485, 140624496-140624499, 140624502
984PRSS170.9018817204301173744142458434-142458454, 142459625-142459629, 142459676-142459682, 142460310-142460342, 142460798-142460804
985CLCN170.99427030670711172967143017807, 143017829-143017831, 143017836-143017837, 143020422-143020423, 143029900, 143042690-143042693, 143042700, 143043308, 143047490-143047491
986CNTNAP270.98898898898899443996145813982-145813983, 145813987-145813988, 145814011, 145814029, 146471410, 147844730-147844733, 147914478-147914510
987KCNH270.7068965517241410203480150644108-150644115, 150644423-150644480, 150644555, 150644570-150644602, 150644694-150644811, 150644825, 150644834-150644839, 150644923, 150644938-150644941, 150645532-150645544, 150645547-150645550, 150645567-150645571, 150645596-150645599, 150648668-150648676, 150648774-150648781, 150648870-150648879, 150648886-150648894, 150648901-150648923, 150655147-150655150, 150655160-150655166, 150655196-150655590, 150671799-150671817, 150671826-150672029, 150674926-150675001
988PRKAG270.95204678362573821710151329155-151329224, 151573632-151573643
989SHH70.635709143268545061389155595594-155596060, 155596110-155596112, 155596127-155596130, 155596197-155596204, 155596210-155596220, 155596323-155596325, 155604807-155604816
990MNX170.339966832504157961206156798214-156798276, 156798306-156798510, 156799258, 156799264-156799269, 156799274, 156799292-156799296, 156799299, 156802357, 156802459, 156802473-156802474, 156802520-156802565, 156802574-156802922, 156802930-156803044
991GATA480.67644845748683430132911565854-11565858, 11565865-11565870, 11565874, 11565876-11565877, 11565881-11565883, 11565911-11565917, 11565985-11566362, 11566373-11566380, 11566390-11566406, 11614546-11614548
992TUSC380.9274116523400276104715397963, 15397968-15398042
993NEFL80.93627450980392104163224813122-24813124, 24813127, 24813131, 24813139, 24813261-24813267, 24813408-24813450, 24813557-24813570, 24813648-24813674, 24813702-24813708
994CHRNA280.993710691823910159027320624, 27320640-27320641, 27321037, 27321072-27321077
995FGFR180.99959399106781246338271519
996ADAM980.997560975609766246038854671-38854676
997ANK180.97541271513874140569441551538, 41561583-41561595, 41753873-41753998
998THAP180.951713395638633164242693199-42693224, 42693239, 42698209-42698212
999HGSNAT80.93763102725367119190842995640-42995757, 43047543
1000RP180.999845464379541647155533911
1001CHD780.998999332888599899461654490, 61734586-61734588, 61734591-61734593, 61748648-61748649
1002TTPA80.7562724014336920483763998377-63998580
1003CYP7B180.9395134779750292152165711036-65711041, 65711059-65711144
1004TMEM7080.99872286079183178374893850
1005CA280.956577266922093478386376311-86376344
1006CNGB380.9658436213991883243087588244-87588251, 87588260-87588326, 87591471-87591478
1007NBN80.9947019867549712226590960103-90960104, 90960107-90960116
1008TMEM6780.997322623828658298894768006-94768007, 94777660, 94777666, 94777852, 94827589-94827591
1009GDF680.64035087719298492136897156895-97156935, 97156960-97156966, 97157010, 97157013, 97157102, 97157127-97157394, 97157410-97157418, 97157427, 97157444-97157455, 97157459, 97157468, 97157474-97157479, 97157481-97157487, 97157491, 97157497-97157507, 97157515, 97157518-97157539, 97157545-97157578, 97157599-97157605, 97157616-97157627, 97157630-97157633, 97157645-97157651, 97157661, 97172592-97172598, 97172680-97172685, 97172695, 97172851-97172860, 97172878-97172884, 97172890, 97172893, 97172905-97172907
1010VPS13B80.996498249124564211994100123371, 100160132, 100160136, 100160149, 100513916, 100513920, 100513933-100513937, 100513944-100513945, 100844597-100844598, 100844830-100844836, 100874117-100874119, 100874124-100874131, 100883846-100883850, 100883856-100883859
1011RRM2B80.98484848484848161056103244388-103244403
1012DPYS80.840384615384622491560105478900-105479148
1013KIAA019680.9997126436781613480126036864
1014KCNQ380.919816723940442102619133492447, 133492535-133492537, 133492548-133492592, 133492603-133492646, 133492663-133492779
1015TG80.99458288190683458307133895173-133895174, 133899650-133899653, 133899656, 133906090-133906099, 133912554-133912574, 133935644-133935649, 134034311
1016NDRG180.9966244725738441185134251165, 134274306, 134274312-134274313
1017SLURP180.993589743589742312143822615-143822616
1018CYP11B180.98544973544974221512143956382, 143958513-143958533
1019CYP11B280.928571428571431081512143993946-143993994, 143994026-143994032, 143994063-143994064, 143994068, 143994072, 143994078, 143994223-143994225, 143994724, 143996536-143996556, 143998608-143998629
1020PLEC80.78619708288865300514055144990387-144990401, 144990489-144990503, 144990508, 144990531, 144990545, 144990729-144990731, 144991026-144991032, 144991969, 144991977-144991979, 144992078, 144992207-144992209, 144992347-144992384, 144992410, 144992529-144992536, 144992581-144992588, 144992594, 144992790-144992795, 144992806-144992807, 144992818-144992822, 144992828, 144993054-144993088, 144993371-144993386, 144993397, 144993424-144993430, 144993550-144993553, 144993556-144993558, 144993562-144993565, 144993568, 144993571, 144993574, 144993592, 144993595-144993598, 144993601-144993602, 144993614, 144993712-144993714, 144993806-144993814, 144993834-144993859, 144993941, 144993944, 144993947-144993970, 144993980-144993985, 144993991, 144993994, 144994005-144994008, 144994073, 144994358, 144994370-144994371, 144994374-144994377, 144994386-144994395, 144994404-144994405, 144994414, 144994446-144994447, 144994960-144994962, 144994982-144995016, 144995022-144995075, 144995180, 144995416-144995420, 144995425-144995428, 144995482-144995484, 144995487, 144995490-144995496, 144995575, 144995578, 144995697-144995719, 144995764, 144995767-144995773, 144995776-144995814, 144995818-144995824, 144995842-144995843, 144995898-144995931, 144995946-144995947, 144995954, 144996138, 144996175-144996213, 144996223-144996227, 144996233-144996241, 144996246-144996249, 144996252-144996256, 144996271, 144996316-144996322, 144996372-144996384, 144996401, 144996500-144996509, 144996516-144996563, 144996689-144996728, 144996756-144996762, 144996884, 144996952-144996973, 144996987, 144996993-144997004, 144997064-144997066, 144997095-144997096, 144997099-144997105, 144997369, 144997433-144997471, 144997495-144997500, 144997504-144997510, 144997513-144997514, 144997518-144997540, 144997549-144997553, 144997601-144997639, 144997697, 144997767-144997783, 144997841-144997903, 144997907-144997916, 144997927, 144997943-144997946, 144997958-144998064, 144998078-144998079, 144998082-144998084, 144998091-144998093, 144998112, 144998142-144998206, 144998239-144998243, 144998266-144998269, 144998272, 144998278-144998288, 144998311-144998313, 144998325-144998330, 144998341-144998363, 144998376-144998409, 144998465-144998509, 144998567-144998569, 144998575-144998579, 144998583, 144998617-144998619, 144998623-144998638, 144998649-144998671, 144998702-144998734, 144998740-144998770, 144998778-144998839, 144998845-144998986, 144998992-144998998, 144999013-144999091, 144999109-144999149, 144999164-144999166, 144999179-144999323, 144999339-144999475, 144999482-144999518, 144999542-144999546, 144999550-144999564, 144999584-144999624, 144999634-144999835, 144999855-144999868, 144999907-144999913, 144999930, 144999935-144999940, 144999961-144999972, 144999989-144999991, 144999993-144999996, 145000000, 145000003-145000020, 145000023-145000025, 145000031-145000046, 145001592, 145001595, 145001603, 145001606-145001608, 145001621-145001630, 145001649-145001677, 145001703-145001734, 145001899, 145001902-145001908, 145002063, 145003277, 145003290-145003345, 145003352-145003418, 145003436-145003449, 145003582-145003584, 145003594-145003599, 145003619, 145003633, 145003636, 145003815, 145003818-145003869, 145003899-145003902, 145003915, 145003921, 145003964-145003969, 145004188, 145004212-145004230, 145004313, 145004323-145004330, 145004337-145004338, 145004349-145004351, 145004381, 145004402, 145004638-145004641, 145006146-145006156, 145006162-145006170, 145006176-145006185, 145006303-145006307, 145006315, 145006321-145006322, 145006330-145006341, 145006350-145006370, 145006379-145006395, 145006568-145006569, 145006653-145006669, 145006690-145006719, 145006803-145006833, 145007006-145007029, 145007072, 145008172-145008181, 145008235-145008259, 145009082-145009084, 145009091-145009094, 145010122, 145010125, 145024393, 145024480, 145024483, 145024582, 145024756, 145024865-145024869
1021GPT80.846411804158282291491145730631-145730634, 145730637, 145730663, 145730667, 145730788-145730797, 145730808-145730815, 145730818-145730819, 145730871-145730872, 145731243, 145731246-145731247, 145731272, 145731280-145731285, 145731290, 145731296-145731310, 145731403, 145731445-145731447, 145731469, 145731472, 145731507, 145731626-145731630, 145731674-145731677, 145731685, 145731691, 145731704-145731711, 145731722-145731726, 145731751-145731789, 145731887-145731941, 145731978, 145732005-145732039, 145732305, 145732322-145732333
1022RECQL480.890543148607663973627145737387-145737392, 145737396-145737422, 145738313, 145738327-145738329, 145738436-145738440, 145738460, 145738518-145738521, 145738642, 145738646, 145738660-145738661, 145738729, 145738735-145738743, 145738758, 145738766-145738768, 145738770-145738772, 145738786-145738793, 145738795-145738797, 145738803, 145738806-145738807, 145738823-145738828, 145738955-145738956, 145738966-145738972, 145738979-145738991, 145738997, 145739000-145739008, 145739076-145739096, 145739312-145739313, 145739407-145739417, 145741957-145741958, 145741965-145741993, 145742537-145742574, 145742798-145742820, 145742831-145742867, 145742890-145742892, 145742986-145743012, 145743085-145743168
1023DOCK890.99636300214977-215029, 371540-371541, 371544, 382591, 382598-382599, 407005-407006, 446515, 452030
1024VLDLR90.98627002288333626222622190-2622197, 2622211-2622218, 2622224, 2622227-2622230, 2622233-2622236, 2622250-2622256, 2622266-2622269
1025KCNV290.8601953601953622916382717986-2718033, 2718099-2718143, 2718311, 2718332, 2718336-2718344, 2718399-2718408, 2718442-2718470, 2718527-2718529, 2718532-2718534, 2718620-2718621, 2718658-2718659, 2718662-2718663, 2718666, 2718728-2718767, 2718935-2718943, 2718962, 2718965-2718974, 2718978-2718989, 2719094
1026GLIS390.966344432509859427933856039-3856054, 4117819-4117820, 4117835, 4117850-4117853, 4117931-4117942, 4118041-4118042, 4118052-4118057, 4118061, 4118094-4118096, 4118111, 4118121, 4118203, 4118207-4118212, 4118222-4118228, 4118242, 4118258, 4118309-4118330, 4118332-4118334, 4118376-4118379
1027SLC1A190.992380952380951215754490750, 4576083-4576093
1028JAK290.9979405707561733995077453, 5077488-5077489, 5077520-5077522, 5077526
1029GLDC90.9830231798895230636645363-6645364, 6645369, 6645379, 6645394-6645400, 6645403, 6645432-6645470, 6645496
1030TYRP190.998141263940523161412694077-12694079
1031CDKN2A90.7643312101910811147121971157-21971165, 21971173, 21974721-21974744, 21974750-21974826
1032CDKN2A90.896551724137935452221971157-21971165, 21971173, 21994189-21994203, 21994215-21994225, 21994284-21994292, 21994313-21994318, 21994361, 21994371, 21994386
1033TOPORS90.99872530274064313832550952-32550955
1034APTX90.997084548104963102932973554-32973556
1035B4GALT190.9465329991645864119733166898, 33167097-33167142, 33167151-33167167
1036GALT90.998245614035092114034646742, 34646755
1037VCP90.9929781082197417242135072334-35072350
1038FANCG90.9941144997324811186935075002-35075012
1039TPM290.98128654970761685535682131-35682146
1040NPR290.992684478371523314435792646-35792655, 35792682-35792686, 35792689-35792695, 35792708
1041GNE90.996905393457127226236217412-36217414, 36234015-36234018
1042FXN90.925750394944714763371650719, 71650741, 71650751-71650753, 71650783-71650790, 71650793-71650798, 71650811-71650820, 71650826-71650833, 71650841, 71650845-71650846, 71650857-71650863
1043TMC190.998685939553223228375315449, 75369779, 75403313
1044TRPM690.9971988795518217606977386716-77386729, 77407627, 77407630, 77407634
1045VPS13A90.9925459317585371952579820984, 79840858, 79841423-79841445, 79896801-79896805, 79896819, 79896830-79896835, 79908373, 79908378, 79910602, 79928929, 79931135, 79931237-79931238, 79931248, 79931252, 79932608, 79996903-79996926
1046AUH90.9637254901960837102094124059-94124065, 94124091-94124100, 94124149, 94124153-94124171
1047ROR290.9650423728813699283294486022, 94486025, 94487004-94487005, 94487195-94487210, 94495435, 94495589-94495594, 94495597, 94495606, 94495615-94495616, 94495638, 94495655, 94712180-94712245
1048FANCC90.9934406678592711167797873827-97873833, 97873845-97873848
1049PTCH190.94475138121547240434498209643, 98209650, 98211421, 98268689-98268777, 98268799-98268835, 98270474-98270476, 98270481-98270506, 98270517-98270522, 98270525, 98270530, 98270546-98270555, 98270580-98270643
1050FOXE190.111408199643499971122100616197-100616677, 100616689-100617152, 100617163-100617206, 100617216-100617223
1051TGFBR190.93518518518519981512101867488-101867584, 101900155
1052ALG290.98880895283773141251101983901, 101983916-101983923, 101983929, 101983932, 101984065-101984067
1053INVS90.9990619136960633198103046733, 103046739-103046740
1054FKTN90.99711399711441386108370181-108370184
1055MUSK90.9977011494252962610113547931, 113547990-113547994
1056DFNB3190.933920704845821802724117266703-117266710, 117266799-117266812, 117266820-117266828, 117266833-117266838, 117266843, 117266846-117266853, 117266861-117266867, 117266889-117266897, 117266915-117266922, 117266929-117266964, 117266973-117267034, 117267069-117267080
1057CDK5RAP290.9994720168954635682123171421, 123171424, 123171429
1058GSN90.980417198808462349124062152, 124062160-124062163, 124062170-124062186, 124062192-124062200, 124062215, 124062219-124062220, 124062228-124062231, 124062241-124062248
1059NR5A190.833333333333332311386127245156, 127245163-127245175, 127245229-127245233, 127245236-127245239, 127245243-127245246, 127253487-127253490, 127255323-127255339, 127262541, 127262544, 127262779, 127262862, 127265358-127265360, 127265393-127265404, 127265407-127265429, 127265439-127265499, 127265573-127265641, 127265664-127265674
1060LMX1B90.732797140303842991119129376831-129376842, 129376845-129376847, 129376861-129376863, 129377662-129377848, 129455556-129455593, 129456025-129456039, 129456051-129456060, 129456063-129456066, 129456070-129456072, 129456077, 129458134-129458141, 129458169, 129458175-129458177, 129458188-129458193, 129458196, 129458573-129458576
1061STXBP190.97958057395143371812130374683-130374719
1062ENG90.99494183105716101977130580587-130580593, 130616582, 130616595, 130616605
1063GLE190.9995231282784912097131286013
1064DOLK90.9981447124304331617131709028-131709030
1065TOR1A90.9259259259259374999132586187-132586201, 132586273-132586329, 132586342, 132586345
1066SETX90.99639034105054298034135139862-135139870, 135139873-135139888, 135139892-135139895
1067TTF190.9977924944812462718135276862-135276867
1068TSC190.9991416309012933495135771988-135771990
1069CEL90.811536767943644282271135944521-135944527, 135945994-135946018, 135946577, 135946635-135947023, 135947055, 135947064-135947068
1070SURF190.8903654485049899903136223131-136223175, 136223276-136223329
1071ADAMTS1390.940242763772182564284136293754-136293891, 136295059-136295084, 136295096-136295135, 136295162-136295191, 136295202-136295210, 136295217, 136302011-136302012, 136302059-136302063, 136307836, 136308647, 136319587-136319589
1072DBH90.98220064724919331854136522232, 136522256-136522285, 136523526, 136523533
1073SARDH90.98186434530287502757136535723-136535759, 136568104-136568113, 136599293-136599295
1074COL5A190.977524016675731245517137534034-137534142, 137642720-137642723, 137642726, 137655547-137655553, 137726874, 137726881, 137726928
1075LHX390.818031430934662201209139089308-139089309, 139089321-139089324, 139089334, 139089341, 139089353-139089355, 139089462-139089469, 139090570-139090576, 139090595, 139090598, 139090602-139090611, 139090666, 139090762-139090905, 139091725, 139094792-139094796, 139094803-139094814, 139094825-139094829, 139094834-139094842, 139094877, 139094882-139094885
1076INPP5E90.775193798449614351935139326305-139326317, 139326322, 139326325, 139326359-139326373, 139326431, 139333068-139333077, 139333145-139333186, 139333201, 139333265, 139333306-139333354, 139333370, 139333373-139333380, 139333424-139333443, 139333505, 139333508, 139333514, 139333517, 139333526-139333563, 139333631-139333663, 139333675-139333871
1077NOTCH190.958920187793433157668139390604, 139390858-139390860, 139390892, 139390909-139390911, 139390916, 139390945, 139390964, 139391022, 139391304-139391308, 139391311-139391334, 139391401-139391402, 139391406-139391408, 139391461, 139391504, 139391523-139391524, 139391547-139391555, 139391712, 139391775, 139391788-139391793, 139391800, 139391803, 139391809-139391810, 139391816-139391824, 139391829, 139391835-139391840, 139391851, 139391862-139391892, 139391899-139391900, 139391906, 139391965-139392010, 139395092-139395138, 139395267, 139396297-139396303, 139396836, 139396869, 139396887, 139396911, 139399216, 139400278-139400280, 139400286-139400291, 139400302, 139402426-139402433, 139403348-139403355, 139440178-139440238
1078AGPAT290.80167264038232166837139571537, 139571991-139571996, 139581651-139581809
1079SLC34A390.823888888888893171800140127456, 140127461, 140127675, 140127723-140127752, 140127775, 140127790-140127824, 140128130-140128174, 140128315-140128393, 140128561-140128642, 140128662-140128668, 140128679-140128684, 140128692, 140128875-140128876, 140128879, 140128906, 140128917-140128919, 140128943-140128945, 140130674, 140130679, 140130684, 140130701, 140130747-140130750, 140130759-140130762, 140130765, 140130786, 140130858-140130861
1080EHMT190.98229407236336693897140513481-140513501, 140605471-140605480, 140672432-140672434, 140708940, 140728967, 140729272, 140729275-140729280, 140729283-140729284, 140729287-140729293, 140729302-140729312, 140729317-140729322
1081SHOXX0.86575654152446118879591763-591765, 591768-591770, 595445-595451, 595483-595489, 595493-595496, 595499-595505, 595531-595533, 595543, 605136-605138, 605144-605145, 605148, 605154, 605157-605175, 605188-605190, 605193-605198, 605232, 605245-605246, 605253, 605258, 605262-605264, 605270-605274, 605286-605292, 605296, 605307-605312, 605315-605332, 605336-605338
1082CSF2RAX0.99846743295019213051422192, 1422219
1083KAL1X0.968673519334316420438699920-8699943, 8699957-8699959, 8699990-8699995, 8700001-8700004, 8700016-8700040, 8700053-8700054
1084GPR143X0.978039215686272812759733670-9733695, 9733706, 9733714
1085SMSX0.9554950045413349110121958943-21958991
1086ARXX0.80343398460628332168925025364, 25025369, 25025399, 25031267-25031272, 25031277, 25031280-25031282, 25031295-25031301, 25031376-25031378, 25031406-25031410, 25031483-25031506, 25031516-25031521, 25031542-25031812, 25031830, 25031891, 25031897
1087NR0B1X0.997169143665964141330327307-30327310
1088RPGRX0.89447817288234365345938145324-38145614, 38145627-38145632, 38145643-38145706, 38145711-38145714
1089BCORX0.999810174639331526839923627
1090NYXX0.64384508990318515144641332805-41332809, 41332850-41332851, 41332854-41332856, 41332860, 41332864, 41332879-41332883, 41332891, 41332906-41333134, 41333167-41333388, 41333422-41333425, 41333431-41333458, 41333468-41333471, 41333519, 41333524-41333529, 41333543-41333545
1091SYN1X0.86827195467422279211847433506-47433508, 47433620-47433823, 47433899-47433934, 47478826, 47479042-47479059, 47479068-47479075, 47479078, 47479089, 47479098-47479101, 47479125-47479127
1092WASX0.9701789264413545150948547191-48547233, 48547373, 48547376
1093FGD1X0.9899514899514929288654494256-54494263, 54497098-54497102, 54521742-54521745, 54521755-54521762, 54521858-54521861
1094ARX0.9739413680781872276366765150-66765193, 66765207-66765211, 66765217-66765220, 66765249-66765250, 66765447-66765450, 66765977, 66766353-66766354, 66766371-66766378, 66766383, 66766386
1095MED12X0.9868380777471786653470338610-70338647, 70338695-70338703, 70360645-70360664, 70360688-70360689, 70361108-70361118, 70361130, 70361134, 70361213-70361216
1096TAF1X0.96832101372756180568270586165-70586344
1097SLC16A2X0.88273615635179216184273641293-73641508
1098BRWD3X0.994823442410828540980064943-80064970
1099PCDH19X0.9933454325468822330699663411-99663418, 99663439-99663443, 99663496-99663498, 99663567-99663572
1100OCRLX0.99519586104952132706128674421-128674433
1101HPRT1X0.9589041095890427657133594342-133594368
1102SLC9A6X0.98812915479582252106135067864-135067869, 135067880-135067895, 135067946-135067948
1103ZIC3X0.93589743589744901404136648875-136648912, 136648985-136648987, 136651071-136651072, 136651115-136651157, 136651166-136651169
1104SOX3X0.533929903057426251341139585915-139586136, 139586154-139586526, 139586650, 139586662-139586663, 139586674-139586678, 139586713, 139586716, 139586816, 139586843-139586860, 139587182
1105FAM58AX0.926530612244954735152864466-152864480, 152864483-152864521
1106SLC6A8X0.860587002096442661908152954030-152954291, 152959642-152959644, 152960294
1107ABCD1X0.96872207327971702238153008675-153008678, 153009014-153009047, 153009057-153009088
1108AVPR2X0.9973118279569931116153172083, 153172087-153172088
1109MECP2X0.95724782899132641497153296055-153296056, 153363061-153363122
1110OPN1MWX0.9936073059360771095153453447-153453453
1111OPN1MWX0.9936073059360771095153490565-153490571
1112FLNAX0.9983635448137137944153599263-153599265, 153599277, 153599280-153599287, 153599596
1113EMDX0.8888888888888985765153607905-153607909, 153607914-153607916, 153608052-153608084, 153608101-153608144
1114GDI1X0.998511904761921344153665637, 153665643
1115G6PDX0.98901098901099181638153760215, 153760226, 153760229-153760238, 153760284, 153760294-153760295, 153760602-153760604
1116IKBKGX0.98428961748634231464153788626-153788639, 153788672-153788673, 153788688-153788691, 153788709, 153788739-153788740
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5PKD1-R4276Whet unknown0.017Dominant
pathogenic
High clinical importance,
uncertain
Reported to cause autosomal dominant polycystic kidney disease, but it has been seen in a confirmed-healthy PGP participant and one other presumed-healthy control genome (overall frequency in randomly chosen controls is 1.7%).
5PKD1-A4059Vhet unknown0.048Unknown
benign
Low clinical importance,
likely
Probably benign.
5PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
5PKD1-F3066Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
4FANCG-R513Qhet unknown0.011Dominant
pathogenic
Low clinical importance,
uncertain
Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.
3CYP2C9-R144Chomozygous0.027Unknown
pharmacogenetic
Moderate clinical importance,
well-established
This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.
2.5NOD2-P268Shomozygous0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5NOD2-R702Whet unknown0.012Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests
2.5TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2.5KRT5-G138Ehet unknown0.031Unknown
pathogenic
Low clinical importance,
likely
This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).
2.5MATN3-T303Mhet unknown0.008Unknown
pathogenic
Moderate clinical importance,
uncertain
An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.
2.5COL4A1-Q1334Hhet unknown0.292Dominant
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
2ATM-D814Ehet unknown0.007Complex/Other
pathogenic
Low clinical importance,
uncertain
May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown.
2ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2PAX8-F329Lhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.018 (benign), Testable gene in GeneTests
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
2ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
2ITGAM-M441Thet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2BARD1-C557Shet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.464 (possibly damaging)
2BARD1-V507Mhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
2BARD1-R378Shomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2SPG7-K117Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SPG7-T503Ahomozygous0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2SPG7-R688Qhomozygous0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1.5ADRB2-T164Ihet unknown0.008Unknown
pharmacogenetic
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-K23Ehomozygous0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.375SERPINA1-R247Chet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease.
1.375SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/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.
1.25SP110-M523Thomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-L425Shet unknown0.875Unknown
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.
1.25SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-E207Khet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-A128Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAM3A-R356WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-R215GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-F185ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1C2orf71-L792VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-I23649ThomozygousUnknown
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-S19140Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhomozygous0.198Unknown
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-E4719Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GAS8-R278Hhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
1TMEM126B-A168Vhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF204P-E93QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF204P-K6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-I405Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1UMPS-G213Ahomozygous0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE1-L8741Mhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CENPJ-S879Ahomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1CENPJ-P85Thomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-N1902Ihomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1873Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-S1517Ghet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-R1515Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-I1451Thet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-I1361Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-Q1325Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-I1263Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-Q571Rhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CDKN1A-S31Rhet unknown0.271Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-I279MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-R149Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ICAM1-G241Rhet unknown0.060Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.948 (probably damaging)
1ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFD1-R653Qhomozygous0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-D423Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DSG2-I293Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1CYP3A4-M445Thet unknown0.008Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR3C1-N363Shet unknown0.020Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
1WWC3-T445Mhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1SLC22A4-I306Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1SLC22A4-L503Fhomozygous0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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.
1DYX1C1-E191Ghet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
1DYX1C1-V91Ihomozygous0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1MLC1-C171Fhomozygous0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
1CYP2C8-K399Rhomozygous0.061Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
1CYP2C8-R139Khomozygous0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign)
1ZNF41-I125Rhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZCCHC12-R12Ghomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1UTP14A-N753Hhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
1MECP2-E409Khomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RAB40A-H45Lhomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-H2772Rhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S721Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ACSS2-S38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ACSS2-Y47*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KIF24-W218Lhomozygous0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1F5-M2148Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
1ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIGR-A580Vhet unknown0.318Complex/Other
pathogenic
Low clinical importance,
likely
In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.
1PIGR-G365Shet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
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-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).
0.625MTRR-I49Mhet unknown0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
0.625MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSP90AB1-R604Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R92Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIF13A-F1600Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5KIF13A-Q1190Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.503 (possibly damaging)
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-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), 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.
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IL17F-E126Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NSD1-D450Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A2546Thet unknown0.026Unknown
benign
Low clinical importance,
uncertain
Benign, reported as a polymorphism.
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP21A2-S494Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2731Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE6A-H655Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SOX30-C55Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5NIPAL4-S453Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), 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-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTN2A2-G203Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5BTN2A2-A336Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5CUTA-R58Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCNMB1-E65Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-DQB1-G157Ahet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN17-I140Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5MUC17-K227Qhomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-G272Ehomozygous0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-P571Lhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-P978Lhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T983Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-G1040Ehet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MUC17-S1083Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MUC17-S1097Rhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.897 (probably damaging)
0.5MUC17-I1130Thomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5MUC17-S1242Thomozygous0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T1262Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-T1305Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-G1307Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-V1309Mhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-C1375Rhomozygous0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-V1480Ahomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S1652Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-N1659Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-V1662Mhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-T1686Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A2096Thomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-R2159Ghomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-G2906Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MUC17-S3285Ghomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-S3299Nhomozygous0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-R4333Qhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L2-E998Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5FREM1-Q2143Phomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FREM1-P897Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5FREM1-S803Yhomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.785 (possibly damaging)
0.5FREM1-I499Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.776 (possibly damaging)
0.5TOPORS-P20Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1045-S352Shifthet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5KIAA1045-S354Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GADD45G-M19Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5KANK1-E432Qhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5KANK1-P666Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5FAM83A-G86*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KCNQ3-R777Qhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype.
0.5KCNQ3-T740Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
0.5KCNQ3-E414Ghet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLEC-A2560Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5SHARPIN-S282Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SVEP1-T3559Mhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.964 (probably damaging)
0.5SVEP1-E1810Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SVEP1-K1416Qhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-L1330Mhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SVEP1-K899Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-Q581Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-V507Ihet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5SVEP1-M456Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.306 (possibly damaging)
0.5SVEP1-T169Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AK094914-M25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM166A-P84Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CDNF-W154Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LRRC38-K292Ehet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC38-C239Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SVIL-V1899Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SVIL-V1752Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVIL-P1235Ahomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SVIL-V422Ihomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS13-R7Whomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5REXO4-T283Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-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
0.5CEP110-V56Ihomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CEP110-P216Lhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5CEP110-L954Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CEP110-K1188Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-K472Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENG-S615Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.043 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5POR-A503Vhet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HIP1-S453Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5NPSR1-N107Ihomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A1-V40Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC22A1-L160Fhomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-M408Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-M440Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PMS2-M622Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.591 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D1640Ghet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THSD7A-R841Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5THSD7A-D771Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5THSD7A-N583Dhomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-I261Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PXDNL-D1452Ehomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-R1399Khomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PXDNL-C1258*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PXDNL-I343Thomozygous0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.5SLCO5A1-R375Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SLCO5A1-L33Fhomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A7-I215Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CNGB3-E755Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-I307Vhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF13B-E1220Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FGL1-Y140Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGL1-I72Vhomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FGL1-T15Ihomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PON1-Q192Rhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DPY19L2P2-H375Yhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-N333Ihet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-D279Nhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPY19L2P2-M120Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LAMB1-R795Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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-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
0.5FLNC-R1567Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TLR3-C28Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5WDR55-C151Rhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5WDR55-Y235Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5THADA-C1605Yhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5THADA-T1385Shet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THADA-T1187Ahet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging)
0.5APLF-I100Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PTCD3-V70Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
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)
0.5SOS1-N1011Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTC27-R165Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LYST-T37Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR2-R1888Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCCPDH-G418Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5TEKT4-A386Ghet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.5TEKT4-N409Khet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-P1251Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CHRNG-P506Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging), Testable gene in GeneTests
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FASTKD2-S10Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.75 (possibly damaging), Testable gene in GeneTests
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1550Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-E191Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP10-Y446Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5CASP8-K14Rhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF678-C351Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5TGFBR3-H155Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhet unknown0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL11A1-P1548Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEGR1-Y347Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5STIL-H985Rhomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-V4332Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A4071Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-T454Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-V457Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-P683Lhomozygous0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEM1-L151Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5MUTYH-V8Mhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASQ2-T66Ahomozygous0.427Unknown
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-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-R180Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HMCN1-I2418Thet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5TSEN15-G19Dhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TSEN15-Q59Hhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5ASPM-Q2620Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5PHLDA3-R28Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5USH2A-V4433Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhomozygous0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3802Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CR2-S639Nhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR2-W707*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CR2-A1003Ehomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMC2-T124Mhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TOR1AIP1-Q293Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5BNIPL-R189Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ANXA9-M1Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ANXA9-D166Ghet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5PI4KB-F386Shifthet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG-G3436Ahet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably 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-D2936Ghet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), 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-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-L2224Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-A2108Vhet unknown0.121Unknown
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-W1947Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1805Vhet unknown0.048Unknown
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-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5S100A3-V70Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PGLYRP3-G126Shet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PGLYRP3-R68Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AGAP1-V671Ihomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGAP1-R798Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRIA2-T478Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CCDC110-I614Mhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC110-Y500Dhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC110-S409Fhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC110-S330Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC110-L299Mhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC110-P209Qhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MARCH6-I32Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MMAA-Q363Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT4-Q453Lhet unknown0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FAT4-A807Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.799 (possibly damaging)
0.5FAT4-S3873Nhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-R4726Khet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5MMRN1-P1099Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC4A4-P771Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.21 (possibly damaging), Testable gene in GeneTests
0.5CENPE-R1597Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5PPA2-K282Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5PPA2-P62Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (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
0.5FAM105A-F319Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5PDZD2-D6Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5PDZD2-R2247Qhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5ST8SIA4-R116Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF608-E1106Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF608-Q1104Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF608-T721Nhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMCO6-L237Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhomozygous0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPEF2-N71Hhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPEF2-R421Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPEF2-A904Vhet unknown0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPEF2-A934Phet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NM_001080479-W225Rhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080479-K266Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001080479-P284Qhomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080479-H780Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080479-H1640Qhomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCN11A-V909Ihet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN11A-K419Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5ANO10-R462Qhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZMYND10-R369Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MITF-N379Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A14-L238Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A14-V284Mhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-S292Ghomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A14-P560Rhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CIDEC-T49Mhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PASK-E796Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5PASK-V250Ihet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FANCD2-G901Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COLQ-S312Ghet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GOLGA4-E677Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5GOLGA4-Q1028Khomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5GOLGA4-S1195Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GOLGA4-M1793Khomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5HACL1-I151Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAK-D1297Nhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5GAK-P1260Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-A40Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-A46Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G216Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (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
0.5TLR10-L696Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TLR10-I369Lhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR10-M326Thet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.978 (probably damaging)
0.5TLR10-V298Ihet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5TLR10-N241Hhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5TLR10-A163Shet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5LAP3-R200Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
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
0.5CCDC50-L121Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A8-R664Qhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5SLC12A8-K541Rhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-I281Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FBXO40-I115Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5ZXDC-P562Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PLSCR1-H262Yhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC34-D376Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGAP22-R186Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OTUD7A-P591Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5EFCAB5-R71*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5EFCAB5-L237Vhomozygous0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB5-I278Khomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZPBP2-P68Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZPBP2-S173Ihet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.688 (possibly damaging)
0.5KRT14-A94Thomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1267-R525PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA1267-R304Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.815 (possibly damaging)
0.5TOP3A-L584Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PITPNM3-V181Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests
0.5MYH8-R1784Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5MYH2-V970Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.315 (possibly damaging), Testable gene in GeneTests
0.5ZNF18-F476Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MYH3-A1244Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1198Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH3-A1192Thet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR15L-R14Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-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
0.5TRIM65-L509Phet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM65-S250Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5TRIM65-V222Ghet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-L2144Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LAMA1-K2002Ehomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1876Thet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-D1682Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.656 (possibly damaging)
0.5LAMA1-M1340Vhomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-A886Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5LAMA1-N674Thomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA10-R1322Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5ABCA10-P203Shet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1G-E2317Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CA10-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5AKAP1-A18Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5GH1-V136Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX33-R621Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DHX33-H483Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5FANCI-L605Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRC1-R469Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5PRC1-A187Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZSCAN10-L654Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CYP19A1-R264Chet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ALG1-S267Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-G809Dhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BC139719-P80Shifthet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGSM2-P217Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KLHDC4-L155Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KLHDC4-T102Ihet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC50-D387Ehet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL1-N1291Shet 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
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NLRC5-P83Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRC5-N907Dhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KATNB1-R370Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ZDHHC1-R124Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5FHOD1-P533Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5ZNF519-R528Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ZNF519-K206Ehomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF519-N167Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPTE-L470Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMPRSS3-A90Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5TMPRSS3-V53Ihet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
0.5COL18A1-A180Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-A288Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-R191Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-A2549Thet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TSHZ2-R502Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5SALL4-L507Rhomozygous0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5CSRP2BP-V400Ghomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CSRP2BP-P600Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CRNKL1-C91Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CRNKL1-Q50*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5MYLK2-P144Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCN2-G94Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R259Phet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TCN2-R399Qhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5UBA1-R447Hhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASMTL-*622Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLCXD1-G305Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5DEPDC5-F685Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5LIMK2-R213Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5FAM83F-S480Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5SGSM3-W20Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5PPARA-L162Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign)
0.5CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF418-N440Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF708-H554Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF708-K113Ehomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF708-A71Vhomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TYK2-I684Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TYK2-R124Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
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
0.5LOXHD1-A2036Vhet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-E1623Ghet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-I194Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-T340Mhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC8E-E181Ghet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC8E-M190Thet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC8E-P454Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5RAX2-P52Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5ZNF792-N425Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF792-Q118Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5NPHS1-N1077Shet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5NPHS1-R408Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF816-Q633*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NLRP2-T529Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP2-A1052Ehet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5LILRB3-R465Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-H409Fhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-N252Dhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-M115Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLK13-H109Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5FCGBP-R4909Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-P4665Lhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-P1436Lhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5FCGBP-E845Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5FCGBP-N770Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.5CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5BCKDHA-P39Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5ZNF526-P298Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CETP-G251Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GUCY1A2-D150Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S106Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-V1572Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-P813Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5OR4L1-D2Nhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5OR4L1-G16Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.893 (probably damaging)
0.5OR4L1-M40Vhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR4L1-R52Shomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR4L1-I83Shifthomozygous0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5OR4L1-M101Khet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5OR4L1-G109Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5OR4L1-I160Thet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5DYNC2H1-K1413Rhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-G4150Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
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-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D5547Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-I6547Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-A98Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-N1229Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thet unknown0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TXNDC16-E486Khet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5TXNDC16-A180Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MDP1-G153Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BBS10-P539Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC25A45-R285Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A2-E1123Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5MS4A5-G51Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KRT6C-R182Qhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPD-V340Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TMEM132A-R278Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TMEM132A-E825Khet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM132A-A970Vhet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPC6-A404Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5FAM111B-Y132Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC6A5-G102Shet unknown0.420Unknown
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
0.5WNK1-A141Thet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
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
0.5ALX4-R35Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VTI1B-R176Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MMAB-M239Khomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPS8-P626Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5TAS2R31-W281Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5TAS2R31-L237Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5TAS2R31-A227Vhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5TAS2R31-L162Mhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX747031-Y95*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NRAP-R1566Chet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.5NRAP-I1183Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-R884Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5NRAP-N519Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.5NRAP-S490Lhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5NRAP-Q360Rhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A344Thet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A282Thet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-Y249Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5NRAP-R215Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5NRAP-V208Ahomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCDC87-R447Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5CALHM1-L86Phomozygous1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UPK2-T113Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1347Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V2280Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AHNAK2-P5397Ahomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.149 (benign)
0.5AHNAK2-Y5184Dhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-G5139Ehet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5AHNAK2-P4821Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-P4755Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5AHNAK2-T4664Ahomozygous0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-M4536Lhet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.267 (possibly damaging)
0.5AHNAK2-L4326Phomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-L4321Vhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5AHNAK2-V4278Ahomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-M3961Vhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-M3869Vhomozygous0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-D3793Nhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-G3654Ehomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.204 (possibly damaging)
0.5AHNAK2-V3363Ahomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5AHNAK2-S3273Ghet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5AHNAK2-N3188Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-R3076Hhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.233 (possibly damaging)
0.5AHNAK2-R2862Shomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5AHNAK2-E2503Ahomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-P2387Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5AHNAK2-L2333Phomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AHNAK2-M2107Vhomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-E1856Dhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-V1610Ahomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-E1403Khomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-M1298Ihomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5AHNAK2-V1133Ihomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5AHNAK2-M852Vhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5AHNAK2-G746Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-P744Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.069 (benign)
0.5AHNAK2-T525Ahet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5XRCC3-T241Mhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.5CINP-R164Hhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CINP-N53Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STAB2-L661Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5STAB2-A1665Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5STAB2-P2039Thet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5ACSM4-Q357*het unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TMEM135-G218Rhomozygous0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM135-S432Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhomozygous0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-K231Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.07 (benign), Testable gene in GeneTests with associated GeneReview
0.5BHLHE41-Q125Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TRPM5-G900Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM5-R604Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM5-V335Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TRPM5-V254Ahomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM22-D155Nhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CAPRIN2-M519Vhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-K237Rhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5DMBT1-P42Thomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-R2338Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ATHL1-R122Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-I2101Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-R832Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-N104Shet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5JAKMIP3-R254*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEL1L-D162Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PAOX-L205Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375KLF11-Q62Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.375KLF11-RI494KVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-D71DDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-F81Shet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375FMO2-V113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375FMO2-N413Khet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375GBA-L197Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF224-M118Vhet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25USP34-F931*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25USP34-M661Thomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-R190Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP4B1-D295Shifthet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP4B1-M332Ihet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R341Chet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R376Chet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL17A1-T210Mhet unknown0.557Unknown
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
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UBXN11-Q457Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UBXN11-L312Rhomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R548Lhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25MYO7A-L16Shet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-M1974Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25HPS5-L417Mhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25SBF2-Q1216Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP3A7-R409Thet unknown0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRRC2A-T544Khet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRRC2A-L1503Phet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRRC2A-E1810Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRRC2A-L1895Vhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICA-R29Phet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF39-S203Phet unknown0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-R934Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-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)
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.25RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.339Unknown
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)
0.25BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), 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
0.25HLA-F-K56EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-V57Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-D123Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-M126Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-F-S128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RYR3-I731Vhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RYR3-N732Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RYR3-R1556Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RYR3-R1641Chomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RYR3-G2270Ehomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATXN1-P753Shet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25NR_027242-C222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_027242-L114Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALDH5A1-H180Yhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS4-I354Thet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UTP20-S502Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.973 (probably damaging)
0.25UTP20-L1882Qhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UTP20-E2608Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UTP20-E2612Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSC2-I776Vhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELP2-T128Phet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELP2-V305Mhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ELP2-L563Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWF-Q852Rhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MAN2B1-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
0.25CLCN1-P727Lhet unknown0.325Unknown
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)
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COG1-T350Mhet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe).
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OPRM1-N40Dhet unknown0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPRM1-Q402Hhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1840Whet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25FREM2-T2326Ihomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OPA1-S158Nhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.707Unknown
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
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-E592Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-E592Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging), 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
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0ACADVL-R385Whet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Predicted to be damaging. Other recessive mutations in this gene cause Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency, and this variant is mentioned in an online database linking it to this disease.
0PMP22-Y136Shet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other recessive mutations in this gene reported to cause Charcot-Marie-Tooth disease or Dejerine-Sottas disease.
0SLC7A9-A182Thet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Reported to cause cystinuria when homozygous, may also have symptoms when heterozygous. Although authors reporting the variant as confidently causal and it has some supporting functional evidence, we are unable to establish that the variant has statistical significance for this association.
0SIAE-M89Vhet unknown0.034Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant, which has a 3.4% allele frequency in 1000 genomes data, is reported to be associated with autoimmune disease when homozygous. The statistical significance of the findings is unclear. Assuming it is pathogenic, we estimate that the relative risk of autoimmune disease in homozygous individuals is around 4x (8% risk vs. an average of 2% risk).
0TGM1-E520Ghet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance.
0SLX4-G1396Shifthet unknown0.009Recessive
pathogenic
High clinical importance,
uncertain
Unreported, predicted to be damaging. Other severe recessive mutations in this gene reported to cause Fanconi anemia.
0DTNBP1-P272Shet unknown0.022Recessive
protective
Low clinical importance,
uncertain
Possibly a slight protective effect against colorectal cancer if homozygous.
0MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0CBS-T460Mhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unpublished data suggests this variant causes homocystinuria in a recessive manner, and Polyphen 2 predicts a damaging effect. Without more data we are unable to determine if the unpublished report had any statistical significance supporting it.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,766,121,209 bases (96.8% of callable positions, 89.8% of total positions)

Coding region coverage: 31,904,631 bases (95.9% of all genes, 97.0% 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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