hu604D39 - GET-Evidence variant report

Variant report for hu604D39

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PKD2-S804NHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.00260271Predicted to cause autosomal dominant polycystic kidney disease, but without control allele frequency the report cannot be tested for statistical significance.1
2PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
3FAM126A-Q154RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000185908Unreported, rare and predicted to be damaging by Polyphen 2. Other recessive variants in this gene, including one missense mutation, have been reported to cause hypomyelinating leukodystrophy and congenital cataracts.1
4SPG7-G199ShiftHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0078125This variant is predicted to cause hereditary spastic paraplegia (paraplegin type) in a recessive manner. Other downstream frameshift mutations in this gene have been implicated in causing the disease. Age of onset is usually in adulthood (~25 years of age), and is characterized by progressive bilateral lower limb weakness and spasticity.1
5C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
6SLC9A3R1-R153QModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0034393This variant was reported in a small family, associated with kidney stones. This gene is strongly associated with causing kidney stones and osteoporosis, and the variant is computationally predicted to be damaging, but the reported cases for this variant were too few to establish any statistical significance.1
7RHO-G51AModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.00232385Implicated in autosomal dominant retinitis pigmentosa, but published observations lack statistical significance. Other variants at this position have strong evidence, but this variant had less severe consequences in functional studies. Also contradicting a pathogenic hypothesis is the fact that it has been seen in a presumed-healthy PGP individual (African American) and in one other presumed-healthy public genome (Nigerian).1
8OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
9DSP-L1489RModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
9.2954e-05Unreported, rare and predicted to be damaging. Some dominant variants in this gene are reported to cause Arrhythmogenic Right Ventricular Dysplasia -- this effect is contradicted by the presence of this variant in a healthy PGP participant, although penetrance is reported to be variable. Other recessive missense variants in this gene are reported to cause Skin Fragility-Woolly Hair Syndrome.1
10SLC26A4-I300LModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00353291If homozygous, this disruptive variant may be a recessive cause of Pendred Syndrome (congenital deafness).1
11MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
12RPGRIP1L-A229TLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0561443This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.1
13rs5186LowLikelyLikely 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
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
15ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
16ITPA-P32TLowWell-establishedWell-established pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0609779This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.1
17rs1544410LowUncertainUncertain 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
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
20CFH-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
21ABCG5-R50CLowLikelyLikely protective

Unknown, Heterozygous
0.0684142This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.1
22KCNJ11-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
23IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
24ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
25EVC-R443QLowLikelyLikely benign

Complex/Other, Heterozygous
0.0791039Probably benign. Implicated in causing Ellis-van Creveld Syndrome in a dominant manner (despite the disease typically being recessive), but the high allele frequency of this variant (7.8% in GET-Evidence data) strongly contradicts any severe pathogenic effect.1
26COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
27FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
28SYNE1-V5606LLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Tentatively classified as benign, although Polyphen 2 predicts a damaging effect. Other recessive variants in this gene are reported to cause Emery-Dreifuss muscular dystrophy or spinocerebellar ataxia, but these are generally more severe and/or far earlier in the peptide sequence.1
29CAPN3-T184MLowUncertainUncertain benign

Unknown, Heterozygous
0.0130136Probably benign -- this was implicated in Limb-girdle muscular dystrophy when homozygous (in a recessive manner), but the reports lacked statistical significance and a relatively high allele frequency (>1%) contradicts the hypothesis.1
30TYK2-A928VLowUncertainUncertain benign

Unknown, Heterozygous
0.00585611Probably benign.1
31DOK7-P214LLowUncertainUncertain benign

Unknown, Heterozygous
0.00102612Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause congenital myasthenic syndromes, but these are usually more severe (frameshift or nonsense mutatinos) and there are many other genomes with rare missense polymorphisms.1
32RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
33SIL1-V332MLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Tentatively evaluated as benign. Polyphen 2 predicts damaging effect, and other recessive variants in this gene are reported to cause Marinesco-Sjogren syndrome, but these are almost all more severe (nonsense or frameshift).1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
36DNAH5-P4488TLowUncertainUncertain benign

Unknown, Heterozygous
0.0467559Probably benign.1
37TYR-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
38DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
39MLC1-N218KLowUncertainUncertain benign

Unknown, Heterozygous
0.00288158Probably benign.1
40RYR1-G893SLowUncertainUncertain benign

Unknown, Heterozygous
0.0013016Rare, tentatively evaluated as benign. Some recessive missense variants in this gene are reported to cause malignant hyperthermia and central core disease, but this variant occurs outside of the amino acid regions where these pathogenic variants typically occur.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32010044 / 33282720 = 96.18%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.838872596937119896138955553-955753, 957676-957725, 957740-957753, 976051-976052, 976055-976058, 976077, 976080, 976102-976105, 976108-976110, 976113, 976116-976120, 976124-976128, 976219-976260, 976553-976614, 976653-976674, 976684-976696, 976724, 976729-976733, 976740-976762, 976770-976777, 976858-976896, 976917, 976923, 976957-976966, 977056-977082, 978720, 980785-980791, 981793-981797, 981800, 981804-981805, 981810-981819, 981832-981872, 981888-981908, 981931, 981953-981985, 982003-982039, 982321-982322, 982328-982330, 983411, 983414, 983420, 983436-983441, 983486-983489, 983528-983745, 984415-984427, 984429-984439, 985171-985175, 985621-985625, 985636-985639, 986675-986681, 986734-986737
2GABRD10.945548197203837413591950863-1950930, 1961497-1961498, 1961503-1961506
3PEX1010.94699286442406529812340007-2340011, 2343846, 2343896-2343941
4NPHP410.989254846998364642815935084-5935086, 5935095-5935134, 5937270, 5937273, 6021967
5ESPN10.6553606237816888425656485016-6485155, 6485170, 6485174-6485176, 6485193-6485228, 6485242-6485276, 6488301-6488336, 6488386-6488392, 6488426-6488432, 6500368-6500407, 6500434-6500440, 6500449-6500488, 6500686-6500868, 6501044, 6501097-6501103, 6505844-6505875, 6505887-6505920, 6505932-6505946, 6508720-6508724, 6508727, 6508760-6508778, 6508818-6508859, 6508867-6509054, 6509117, 6511750, 6511754, 6517289, 6520136
6PLEKHG510.9005957980558231731896528173, 6528248-6528253, 6529443, 6529703, 6529706, 6529709, 6529712-6529716, 6529722-6529723, 6530657, 6530664-6530665, 6530668-6530669, 6530805, 6530819, 6530836, 6534073-6534224, 6534511-6534594, 6534601-6534647, 6537676-6537677, 6537702-6537703, 6557380-6557383
7KIF1B10.9981178242047810531310335486-10335488, 10335493-10335494, 10355746-10355750
8PEX1410.994708994708996113410535048, 10690014-10690018
9TARDBP10.9775100401606428124511082356-11082383
10MASP210.999029597282872206111094961-11094962
11MTHFR10.9939117199391212197111853985-11853987, 11854000, 11854004-11854007, 11854013, 11854531, 11854534-11854535
12PLOD110.9826007326007338218411994837-11994839, 11994842, 11994846-11994854, 11994862, 11994872-11994874, 12023639-12023641, 12023648, 12023667, 12024786-12024788, 12024797-12024800, 12030865-12030873
13CLCNKA10.9646317829457473206416353082, 16353085-16353087, 16353092, 16353197, 16353214-16353270, 16357074, 16358750-16358751, 16360141-16360147
14CLCNKB10.999031007751942206416375076, 16377019
15ATP13A210.9847586790855254354317313573-17313575, 17313597-17313604, 17313607, 17313614-17313618, 17314961, 17320236-17320264, 17322472-17322477, 17322487
16SDHB10.99406880189798584317371379-17371383
17ALDH4A110.998817966903072169219200980, 19216555
18PINK110.77835051546392387174620960042-20960428
19ALPL10.997460317460324157521903894-21903895, 21903961, 21904058
20HSPG210.989374620522161401317622149829-22149831, 22159038, 22165424, 22165441-22165445, 22165448-22165449, 22182052, 22186705-22186708, 22191416-22191417, 22191813-22191833, 22199215-22199217, 22199220, 22199235-22199236, 22199243-22199245, 22211100-22211125, 22213798, 22213805, 22263648-22263710
21WNT410.9270833333333377105622469339-22469415
22GALE10.9885386819484212104724122650, 24122654-24122662, 24122676, 24122679
23FUCA110.9928622412562510140124194453-24194455, 24194630-24194633, 24194636, 24194681-24194682
24LDLRAP110.8781014023732511392725870190-25870277, 25889632, 25890189, 25893339-25893360, 25893392
25SEPN110.88489208633094192166826126722-26126904, 26138338-26138339, 26138354-26138360
26HPCA10.96391752577322158233359429-33359448, 33359462
27GJB310.99876998769988181335250797
28ZMPSTE2410.997899159663873142840747092-40747093, 40747182
29COL9A210.999033816425122207040768471-40768472
30KCNQ410.89032567049808229208841249766-41249936, 41249970-41249973, 41249989-41249994, 41250010, 41284240-41284256, 41284263-41284267, 41284271-41284274, 41284297-41284308, 41284325, 41284331-41284338
31CLDN1910.99851851851852167543201668
32LEPRE110.9715061058344663221143232268, 43232281, 43232284, 43232298, 43232304, 43232413-43232419, 43232487-43232490, 43232496-43232499, 43232501, 43232506-43232508, 43232510, 43232514-43232515, 43232519, 43232522-43232532, 43232535-43232539, 43232549-43232554, 43232560, 43232565, 43232572-43232573, 43232634-43232642
33SLC2A110.999323867478031147943424320
34MPL10.9800838574423538190843814531, 43814534-43814535, 43814952-43814957, 43814961-43814962, 43814967, 43814972-43814984, 43814989-43815001
35MUTYH10.9923518164435912156945797107-45797110, 45797114, 45797124, 45797128, 45797170-45797172, 45798069, 45798072
36STIL10.9749159555210897386747737793-47737794, 47737801-47737816, 47737827-47737828, 47737856-47737884, 47748098, 47748112, 47748116, 47748119-47748121, 47765752-47765793
37ORC110.99845320959014258652841118-52841121
38CPT210.996459281740017197753679015, 53679018, 53679021-53679025
39DHCR2410.88652482269504176155155352586, 55352596-55352718, 55352736-55352782, 55352788-55352792
40PCSK910.94708994708995110207955505542-55505588, 55505652, 55505668, 55521760-55521768, 55521777-55521812, 55521815-55521823, 55521852, 55521861-55521862, 55529187-55529189, 55529212
41ALG610.9823529411764727153063871988-63871994, 63876980-63876982, 63881552, 63881572-63881577, 63881588-63881596, 63881622
42LEPR10.998284734133796349866038073-66038076, 66058396, 66067141
43RPE6510.996254681647946160268904654, 68914378, 68914386-68914389
44CTH10.9893267651888313121870883674, 70896068-70896077, 70897904-70897905
45ACADM10.992957746478879127876215136, 76215208-76215215
46GLMN10.9943977591036410178592752140-92752149
47RPL510.99776286353468289493307356, 93307390
48ABCA410.9985341542069810682294461687-94461690, 94473813, 94496556, 94544165-94544166, 94568598-94568599
49DPYD10.9879792072774537307897564060, 97564101-97564123, 97981395, 97981398-97981400, 97981423, 98060616, 98060627-98060628, 98144681, 98144723, 98187123-98187125
50AGL10.9989128071319954599100343200-100343201, 100378034, 100378037, 100378043
51COL11A110.938244456661173375457103343584, 103356021, 103356052-103356054, 103356057-103356060, 103363697, 103363712, 103364222-103364329, 103364497-103364518, 103364532-103364550, 103388892-103388896, 103400068, 103404636, 103412427, 103412459-103412465, 103412477-103412478, 103427428-103427435, 103427461, 103435775-103435788, 103435801, 103435804-103435806, 103435824-103435828, 103440421, 103470188-103470191, 103471624-103471635, 103471669, 103471672-103471675, 103471839-103471857, 103477994-103478020, 103480119-103480120, 103480138-103480139, 103481261-103481264, 103481272-103481279, 103481298, 103488322-103488328, 103488384-103488400, 103488495, 103496741-103496750, 103496795-103496800, 103548434, 103548437
52GNAT210.9868544600939141065110146611-110146624
53GSTM110.39878234398782395657110230496-110230531, 110230792-110230815, 110230835-110230867, 110231295-110231313, 110231320-110231322, 110231332-110231359, 110231670-110231694, 110231704, 110231714, 110231721, 110231737, 110231847, 110231855-110231947, 110232907-110232913, 110232926-110232988, 110233076-110233133, 110233185
54AMPD110.99420677361854132244115222925-115222933, 115236062-115236065
55VANGL110.99365079365079101575116227998, 116228004-116228012
56CASQ210.98583333333333171200116244024-116244039, 116269642
57HSD3B210.9937444146559471119119965218-119965224
58PHGDH10.9987515605493121602120277270-120277271
59NOTCH210.979638619201731517416120539665-120539714, 120539739-120539784, 120539913-120539939, 120547962-120547968, 120572547, 120572572, 120611964, 120612003-120612020
60PRPF310.9770955165692472052150297529-150297533, 150315813-150315847, 150315890-150315896
61FLG10.9322172985393182612186152276365-152276389, 152276474, 152276580-152276631, 152276656-152276702, 152276758-152276804, 152276868-152276910, 152277055, 152277118-152277171, 152277529-152277557, 152277714-152277720, 152278044-152278059, 152278090-152278115, 152278233-152278250, 152278431-152278437, 152278542, 152278548, 152278560, 152278686-152278717, 152278789-152278817, 152278837-152278879, 152279055-152279087, 152279205-152279222, 152279406, 152279838-152279887, 152280184-152280195, 152280471, 152280570-152280617, 152280643-152280652, 152280682-152280694, 152280736, 152280864, 152280900, 152281039, 152281136, 152281172, 152281225-152281231, 152281287-152281307, 152281404-152281407, 152281466, 152281523, 152281534, 152281621-152281671, 152282088, 152282104, 152282113, 152284140-152284175, 152284997-152285023, 152285188, 152287879
62CHRNB210.96951623591783461509154544124-154544164, 154544213, 154544391-154544394
63PKLR10.9994202898550711725155269983
64LMNA10.994708994708993567156105080-156105082
65LMNA10.99197994987469161995156084725-156084737, 156105080-156105082
66SEMA4A10.97856517935258492286156131204-156131207, 156131216-156131236, 156131245-156131259, 156131263-156131270, 156146527
67NTRK110.96486825595985842391156830729, 156830740-156830742, 156830745-156830751, 156830761-156830820, 156830823-156830827, 156830855-156830862
68PPOX10.997907949790831434161139478-161139480
69NDUFS210.999281609195411392161176262
70MPZ10.9253539253539358777161279629-161279631, 161279633-161279677, 161279686-161279693, 161279717-161279718
71TBX1910.97178916109874381347168250419-168250431, 168274313-168274337
72SLC19A210.9973226238286541494169437926-169437928, 169454887
73F510.99460674157303366675169505880-169505905, 169510364-169510370, 169510380, 169510502, 169510515
74FMO310.9993746091307111599171077278
75MYOC10.99207920792079121515171605239, 171605244-171605250, 171621189, 171621598-171621600
76DARS210.9989680082559321938173794441, 173802608
77NPHS210.94444444444444641152179544864, 179544890, 179544898, 179544935-179544947, 179544949-179544954, 179544958-179544999
78LHX410.9991474850809911173180199687
79RNASEL10.99326145552561152226182555266-182555268, 182555271-182555272, 182555276, 182555279-182555280, 182555307-182555311, 182555576-182555577
80LAMC210.9994416527079823582183155508, 183184703
81HMCN110.9927844807191912216908185891519-185891522, 185897724-185897734, 185897743-185897745, 185897761-185897771, 185897777-185897778, 185897791-185897795, 185946935-185946936, 185947008, 185947011-185947012, 185956564-185956566, 185958658-185958659, 185958662, 185963965-185963980, 185972864, 186007069, 186007115, 186014925-186014928, 186023035, 186023043, 186037032, 186037065, 186043896, 186043934, 186043947-186043950, 186052069-186052073, 186057873-186057876, 186057881-186057883, 186062639-186062640, 186062656, 186062660, 186062687-186062694, 186062700-186062710, 186082059-186082064, 186086670
82PDC10.998650472334681741186415709
83CDC7310.97681704260652371596193104711-193104719, 193111040-193111047, 193111050-193111052, 193111063-193111065, 193121520-193121526, 193121550-193121555, 193172935
84CFH10.956168831168831623696196621254-196621255, 196621261-196621279, 196658601, 196658684-196658687, 196659193-196659210, 196659274-196659306, 196682889-196682892, 196683024, 196695937-196695940, 196697591-196697606, 196706024, 196706605-196706606, 196706637, 196706647-196706650, 196706654, 196706657, 196715005-196715011, 196716353-196716395
85CFHR110.88620342396777113993196794656-196794697, 196794733-196794751, 196794772, 196797204, 196797227, 196797230, 196797238, 196797244-196797247, 196797253, 196797286, 196797319, 196799688-196799719, 196801001, 196801075-196801081
86CFHR510.98245614035088301710196952195-196952205, 196953116-196953119, 196963286, 196964966, 196967368-196967380
87ASPM10.993195322982567110434197062248-197062250, 197062340, 197062346, 197069596, 197069703, 197069723, 197069903, 197069907, 197069975-197069977, 197069989, 197069992, 197072331, 197073859-197073862, 197074265-197074268, 197093249, 197093346-197093354, 197093359-197093364, 197094076-197094079, 197097653, 197097657, 197097711, 197097732, 197097736, 197099183-197099184, 197101415-197101418, 197101476-197101477, 197104251, 197104257, 197104263-197104265, 197104271-197104276, 197104290-197104291, 197115505
88CACNA1S10.99786552828175125622201047039, 201047128, 201047132-201047137, 201081318, 201081323-201081325
89TNNT210.9673423423423429888201330412-201330427, 201332471-201332483
90CD4610.99121200207943667, 207943670-207943679, 207943683
91LAMB310.98891730605286393519209790878, 209790882-209790891, 209790894-209790897, 209790901-209790906, 209790911, 209795999, 209796002, 209796011-209796025
92IRF610.998575498575521404209969816, 209969822
93USH2A10.9909667499519514115609215799212, 215848049-215848054, 215848057-215848062, 215848083-215848086, 215916535, 215916538-215916540, 215916565-215916569, 215916579, 215916587, 215916610-215916624, 215916636-215916677, 215956217-215956220, 215987225, 215990345-215990347, 215990382, 215990407, 215990447, 216061836, 216108018-216108021, 216144017-216144031, 216172265, 216251475, 216251494-216251501, 216370057, 216371911, 216496817-216496822, 216496832-216496834, 216496843, 216496867, 216496886, 216595380
94LBR10.99242424242424141848225592139-225592147, 225594427-225594429, 225607078-225607079
95PSEN210.999257609502611347227069677
96ADCK310.9984567901234631944227152861, 227152864-227152865
97GJC210.1462121212121211271320228345460-228345657, 228345673-228345679, 228345691-228345696, 228345699-228345702, 228345739-228346496, 228346512-228346522, 228346525-228346544, 228346577-228346648, 228346661-228346711
98ACTA110.89682539682541171134229567370-229567372, 229567797-229567820, 229567828-229567866, 229567888-229567932, 229568017-229568018, 229568021, 229568024, 229568086, 229568129
99AGT10.9951989026063171458230845916-230845918, 230845926-230845929
100GNPAT10.999510523739612043231408118
101LYST10.9826407154129419811406235826368-235826378, 235875451-235875452, 235875474-235875477, 235894367-235894368, 235894433, 235896893, 235896904-235896906, 235896918-235896974, 235896990-235896991, 235897160-235897170, 235897818, 235897822-235897839, 235897844-235897850, 235897939, 235916440, 235933493, 235944215-235944217, 235944222, 235944233, 235944244-235944245, 235950500, 235950540, 235950543-235950547, 235950578-235950579, 235950592, 235950613-235950615, 235956846, 235966237-235966244, 235967836-235967843, 235969397-235969410, 235972295, 235972408-235972428, 235972435, 235973491
102ACTN210.96610800744879912685236850017-236850086, 236850089, 236917293-236917312
103MTR10.98525539757767563798236988638-236988668, 236988682-236988685, 237013695-237013698, 237013721-237013731, 237013735-237013740
104RYR210.9794685990338230614904237205822-237205823, 237205854-237205869, 237433873-237433899, 237527672, 237632396-237632418, 237656289-237656298, 237656304-237656326, 237656345-237656352, 237656368, 237656382, 237675057-237675058, 237693727, 237730074-237730075, 237754172, 237780696, 237791275-237791281, 237798212, 237801727, 237802326-237802337, 237802406-237802421, 237817650, 237817655-237817659, 237817662, 237817669-237817672, 237817687-237817690, 237821244-237821322, 237837396-237837411, 237837488-237837490, 237837499-237837505, 237841381-237841388, 237862288, 237875104-237875114, 237881770, 237881784, 237895403-237895404, 237897026, 237944886-237944887, 237948014-237948015, 237995913
105FH10.95238095238095731533241661136-241661170, 241671990-241671991, 241672048, 241672051-241672058, 241672067-241672070, 241676951-241676953, 241676964-241676969, 241676977-241676983, 241677012-241677013, 241682927-241682929, 241682963-241682964
106NET1100.987158012283642317915454678-5454699, 5494416
107IL2RA100.99877899877918196060050
108GATA3100.991011235955061213358097706-8097709, 8097830-8097837
109OPTN100.997693194925034173413151281-13151284
110PHYH100.9754178957718825101713325700, 13341989-13342000, 13342004-13342006, 13342016-13342023, 13342030
111CUBN100.987766740250181331087216882367-16882376, 16882379, 16882384-16882392, 16979696-16979717, 16990561, 16992056, 16992061, 17032441-17032459, 17032470-17032473, 17032479-17032480, 17032512-17032513, 17061832-17061846, 17085832-17085838, 17085862-17085865, 17085868, 17085879-17085884, 17113560, 17142037-17142041, 17142049-17142054, 17142065-17142070, 17142075, 17142132, 17146555-17146562
112PTF1A100.2917933130699169998723481460-23482158
113MYO3A100.9919604205318539485126359264-26359265, 26385310-26385318, 26385328-26385331, 26434376-26434389, 26455034, 26459345-26459346, 26465656-26465658, 26500848-26500851
114PDSS1100.91987179487179100124826986663-26986674, 26986689-26986769, 26994299-26994301, 26994309, 26994316-26994318
115MASTL100.9927948426241919263727448597, 27448601, 27456081-27456083, 27456190, 27459106-27459118
116RET100.9772795216741476334543572707-43572779, 43595968, 43595988, 43598069
117ERCC6100.9933065595716230448250667006, 50667015-50667016, 50667105, 50669479, 50708700-50708701, 50738833-50738839, 50740775-50740790
118CHAT100.89675122385403232224750822238, 50822266-50822433, 50822451, 50822459-50822460, 50822463, 50822474-50822489, 50827802-50827803, 50827814-50827821, 50827825-50827830, 50827842, 50827927-50827936, 50857589-50857604
119MBL2100.981258366800541474754527957-54527970
120PCDH15100.96875530650365184588955581774-55581785, 55582214-55582245, 55591086-55591134, 55626437-55626441, 55663096, 55700690, 55719516, 55719534, 55849812-55849819, 55912909-55912911, 55912936, 55943235-55943248, 55955485, 55973702, 55973709-55973719, 55973735-55973759, 55996691, 56129018-56129025, 56129034-56129035, 56138585-56138586, 56138589-56138590, 56138678-56138679, 56424015
121EGR2100.9923130677847711143164573002-64573004, 64573364, 64573446, 64573469, 64573474, 64573497, 64573503, 64573530-64573531
122KIAA1279100.99839228295823186670748958-70748960
123PRF1100.9904076738609116166872358465-72358467, 72358470-72358478, 72358487-72358490
124PCBD1100.99047619047619331572648288-72648290
125SLC29A3100.999299719887961142873079067
126CDH23100.99731503579952271005673326548-73326570, 73375369, 73565961-73565963
127VCL100.96035242290749135340575757966, 75757984-75757989, 75757994-75757997, 75758033-75758077, 75758093-75758118, 75854055-75854088, 75854120-75854121, 75854127-75854129, 75854157, 75864939-75864942, 75871701-75871702, 75871744, 75873964-75873967, 75873970, 75873975
128RGR100.99887387387387188886017676
129LDB3100.9848901098901133218488476156-88476178, 88476189, 88476220, 88476297, 88476399-88476403, 88476440, 88476450
130GLUD1100.8288610614192287167788854091-88854120, 88854130-88854165, 88854172, 88854219-88854224, 88854231-88854242, 88854253-88854258, 88854281-88854292, 88854299-88854302, 88854347-88854526
131PTEN100.99834983498352121289720651-89720652
132LIPA100.995833333333335120090974620-90974621, 90982322, 90988028, 91007360
133ANKRD1100.981251896092678661-92678666, 92678677-92678683, 92679017-92679019, 92679023-92679024
134PDE6C100.997283663174237257795386440-95386441, 95386569, 95386595, 95425121-95425123
135PLCE1100.99768418005516690996006287, 96006298, 96066235-96066242, 96066245, 96076365-96076368, 96076373
136ZFYVE27100.9813915857605223123699504530, 99504536, 99504550-99504551, 99504558, 99504562, 99504566-99504568, 99504630, 99504634-99504636, 99511169-99511177, 99519001
137HPS1100.98385565052232342106100177362-100177382, 100183606, 100183611-100183613, 100183619-100183620, 100185465-100185467, 100190416, 100190419-100190421
138ABCC2100.99331608451919314638101578667-101578697
139SCD100.97592592592593261080102107973-102107998
140PAX2100.97305619707467351299102566187, 102566309-102566310, 102587328, 102587331-102587332, 102587410-102587438
141FBXW4100.9636803874092451239103454216-103454225, 103454231-103454235, 103454246-103454255, 103454325-103454344
142HPS6100.835481099656363832328103825232-103825467, 103825483-103825517, 103825521-103825524, 103825539-103825549, 103825554-103825560, 103825570, 103825574, 103825578-103825583, 103825599-103825603, 103825612-103825617, 103825624, 103825633, 103825636-103825642, 103825690, 103825697-103825701, 103825740-103825745, 103825749, 103825754-103825771, 103825777, 103825783, 103825785, 103825787-103825800, 103825804-103825805, 103825810-103825818, 103825834, 103825855, 103826296
143SUFU100.98556701030928211455104263919-104263920, 104263923-104263924, 104263928, 104263972, 104263983-104263988, 104263997-104264001, 104264070-104264073
144COL17A1100.9997774810858914494105837195
145SHOC2100.98227558604917311749112724793-112724819, 112767366, 112771574-112771576
146EMX2100.81818181818182138759119302784-119302806, 119302812-119302834, 119302838-119302842, 119302853-119302858, 119302862, 119302892, 119302895, 119302898, 119302904-119302911, 119302927-119302960, 119302974-119303007, 119303069
147BAG3100.895833333333331801728121411188-121411367
148HTRA1100.777546777546783211443124221169-124221488, 124221536
149ACADSB100.9938414164742181299124768561, 124810584, 124810591-124810594, 124810701-124810702
150OAT100.9977272727272731320126097527-126097528, 126100674
151UROS100.998746867167921798127503614
152HRAS110.994736842105263570534213-534215
153TALDO1110.95364891518738471014747482-747501, 747522-747523, 747529, 747534, 747544-747558, 747568-747573, 763426, 763481
154SLC25A22110.9300411522633768972792617-792669, 794783, 794793-794801, 794804, 794830, 794875-794877
155PNPLA2110.851485148514852251515819719-819905, 823751, 823754, 823998, 824009-824039, 824067-824070
156CTSD110.9015334947538312212391775033-1775052, 1775224-1775228, 1775237, 1775240, 1775245-1775246, 1775256, 1775264, 1775324-1775352, 1775359-1775368, 1785022-1785041, 1785058-1785089
157H19110.987861811391221310712017769, 2017801, 2017829, 2017842-2017845, 2017886, 2017996, 2018223, 2018226, 2018229, 2018278
158IGF2110.727144866385371947112154377-2154408, 2161365-2161526
159TH110.9295238095238111115752187740-2187779, 2187904-2187907, 2187912-2187914, 2187917-2187921, 2187924-2187929, 2187973, 2187997-2187998, 2188117-2188134, 2191015, 2191020, 2191920-2191949
160KCNQ1110.8513047759724330220312466329-2466559, 2466569-2466574, 2466580-2466592, 2466596-2466599, 2466612, 2466618-2466661, 2466681, 2683259-2683260
161CDKN1C110.340694006309156279512905268-2905270, 2905289-2905292, 2905900-2906408, 2906441-2906509, 2906577, 2906580-2906582, 2906591-2906593, 2906597-2906610, 2906617, 2906620, 2906630-2906646, 2906718-2906719
162HBD110.9842342342342374445255652-5255658
163SMPD1110.973101265822785118966411936-6411941, 6411960, 6412715-6412737, 6412742-6412746, 6412749-6412756, 6413181-6413183, 6413199-6413202, 6415818
164SBF2110.982522522522529755509803150, 9812132-9812133, 9838408, 9838413, 9838437, 9838442-9838444, 9838560-9838563, 9868515, 9985335, 9985341, 10013972, 10013975, 10014646-10014650, 10052595-10052609, 10052611, 10052616, 10052619, 10215497, 10315562-10315616
165ABCC8110.9890434049726152474617417264, 17424286, 17485041-17485071, 17498305-17498323
166USH1C110.9062962962963253270017522638, 17531112-17531341, 17544416, 17554845-17554865
167HPS5110.9961651917404113339018316705-18316716, 18327684
168LDHA110.997997997998299918422435, 18428800
169SLC6A5110.9866332497911432239420622730-20622760, 20623007
170ANO5110.94274252370532157274222248983, 22248988-22248991, 22276917-22277068
171PAX6110.9858156028368818126931824327-31824344
172WT1110.73745173745174408155432449508, 32456334-32456361, 32456482-32456509, 32456515, 32456517-32456522, 32456548-32456891
173PDHX110.996015936254986150634938211, 34979035-34979039
174RAG1110.999680715197961313236596262
175EXT2110.999072786277242215744228354, 44228481
176ALX4110.9279935275080989123644331162, 44331253-44331262, 44331268-44331277, 44331284, 44331288-44331299, 44331347-44331380, 44331509, 44331572-44331591
177SLC35C1110.9176136363636487105645827397, 45827408-45827419, 45827423-45827442, 45827448-45827453, 45827468-45827469, 45827471, 45827488-45827498, 45827523-45827545, 45827568, 45827577-45827578, 45827597-45827599, 45827602-45827603, 45827635, 45827845, 45827876
178PEX16110.992315081652268104145939276, 45939284, 45939291-45939296
179MADD110.999797734627831494447307056
180MYBPC3110.9960784313725515382547357551-47357562, 47372071, 47372078, 47372126
181SLC39A13110.999103942652331111647435012
182RAPSN110.999192897497981123947460306
183NDUFS3110.9937106918239579547602511-47602513, 47602533, 47602536
184SERPING1110.9933466400532310150357365744-57365753
185GIF110.9912280701754411125459599155-59599165
186TMEM216110.98484848484848426461165297-61165300
187SDHAF2110.976047904191621250161205286-61205297
188BEST1110.9857792946530125175861723285-61723291, 61725740-61725757
189ROM1110.998106060606062105662380807, 62380817
190SLC22A12110.9747292418772642166264367218, 64367222, 64367242-64367247, 64367270-64367303
191PYGM110.9897192566231726252964520991, 64520997, 64521016, 64521025-64521030, 64521117-64521122, 64521142, 64521145-64521154
192MEN1110.9956709956718184864572525, 64572528, 64572531, 64572553, 64572557-64572560
193RNASEH2C110.917171717171724149565488058-65488059, 65488065, 65488160-65488197
194CST6110.842222222222227145065779677, 65779717-65779718, 65779728-65779755, 65780320-65780325, 65780328-65780329, 65780331-65780332, 65780335-65780361, 65780371-65780372, 65780378
195BBS1110.9898989898989918178266294189-66294202, 66299433-66299436
196SPTBN2110.9910776523072664717366453453-66453459, 66453472-66453477, 66458883-66458901, 66460507, 66460516, 66460527, 66460530-66460532, 66460540-66460541, 66463766-66463768, 66463791-66463797, 66463800-66463811, 66472071, 66483376
197PC110.9833191970596659353766620032-66620054, 66620062-66620096, 66638836
198AIP110.962739174219543799367257559-67257578, 67257815-67257826, 67257832-67257835, 67257839
199NDUFV1110.998566308243732139567377057, 67379914
200NDUFS8110.98578199052133963367803929-67803933, 67804055-67804058
201TCIRG1110.996389891696759249367810270, 67810277-67810278, 67810286, 67810289-67810291, 67810839, 67816578
202LRP5110.96637788778878163484868080183-68080273, 68125268-68125271, 68131401, 68133146-68133170, 68153785-68153786, 68153789-68153792, 68207304-68207305, 68207343-68207351, 68207360-68207384
203CPT1A110.9896640826873424232268562300-68562323
204DHCR7110.9817927170868326142871146468-71146469, 71146577, 71146584, 71146588, 71146592-71146598, 71146691-71146693, 71146703-71146707, 71146831, 71146839-71146842, 71146845
205MYO7A110.9971419975932619664876890785-76890788, 76890798-76890799, 76890888, 76893180-76893189, 76922282, 76922295
206ALG8110.994939911448458158177817909-77817914, 77817919, 77817925
207FZD4110.995662949194557161486666079, 86666095-86666098, 86666101-86666102
208TYR110.9849056603773624159089018071-89018077, 89028414-89028430
209MTMR2110.999482401656311193295657072
210TRPC6110.9982117310443552796101344496-101344499, 101347070
211DYNC2H1110.9694862881421439512945102987306-102987307, 102988384-102988392, 102988397, 102988399, 102988404-102988406, 102991187, 102991201, 102991251-102991253, 102991256, 102991470-102991473, 102991477-102991481, 102991491-102991505, 102991509-102991513, 102991527-102991530, 102991654-102991666, 102991714-102991718, 102991745-102991765, 102995955-102995969, 102999666, 103018515, 103018526, 103018529, 103019305, 103024082-103024084, 103024150-103024155, 103024166, 103024169, 103025236, 103025276-103025281, 103025424-103025425, 103027302, 103027322, 103029513-103029519, 103029538, 103043823-103043824, 103043827-103043837, 103043844, 103043939-103043944, 103044004-103044007, 103044010, 103044013-103044018, 103044784-103044790, 103047132, 103049832-103049837, 103052509, 103052513-103052530, 103052538-103052545, 103052549, 103052609-103052612, 103057102, 103057130, 103057149, 103059228, 103059232, 103059235, 103059241, 103059275, 103059283, 103062334-103062341, 103062854, 103062883, 103062986, 103070049-103070061, 103080642, 103080656, 103080660-103080663, 103080671-103080672, 103080677-103080679, 103080683-103080689, 103082533-103082552, 103082590, 103082607-103082608, 103082620, 103090739-103090752, 103092829-103092864, 103093724, 103093782, 103101996, 103124014-103124015, 103126244, 103152909, 103152919, 103152937-103152942, 103157028, 103157045-103157049, 103158273, 103191817-103191819, 103229027, 103270410, 103349879-103349901
212ATM110.98168138698071689171108098378, 108098507, 108098537-108098556, 108126972-108126989, 108126996-108127024, 108175422-108175430, 108188100-108188110, 108188144-108188166, 108202171-108202183, 108202192-108202204, 108203525-108203533, 108203587, 108204667, 108216528, 108216600-108216615, 108236201-108236202
213ALG9110.9656862745098631836111742113-111742128, 111742131-111742132, 111742139-111742145, 111742147-111742184
214DLAT110.97788065843621431944111899534-111899546, 111899589, 111909977-111909978, 111909981-111909982, 111910013, 111910016-111910019, 111910029-111910043, 111910079-111910082, 111910106
215PTS110.997716894977171438112104245
216APOA1110.9788557213930317804116706773, 116706776-116706777, 116706783-116706785, 116706796-116706805, 116706893
217DPAGT1110.98533007334963181227118971361, 118972246, 118972259, 118972269-118972277, 118972288-118972293
218TECTA110.9998453209590116465121000895
219ROBO3110.98509973564047624161124735555-124735556, 124735572-124735582, 124738898-124738899, 124738928-124738938, 124738944-124738948, 124739425-124739428, 124739431-124739432, 124745460, 124745465-124745466, 124745938-124745940, 124745942-124745951, 124745954-124745958, 124746268-124746271
220WNK1120.983494194992311187149862737-862740, 862794-862795, 862815, 862821, 862893-862897, 863142, 863147-863172, 863235-863275, 939295, 939302, 968500, 968523, 970290, 994355, 994424, 994801, 994805, 1017017-1017026, 1017029, 1017038, 1017060-1017068, 1017074-1017080
221CACNA2D4120.983596953719985634141902902-1902904, 1953649-1953651, 1993437-1993484, 2017063-2017064
222CACNA1C120.9843011736015910365612558261-2558264, 2622052-2622059, 2676806-2676811, 2705115, 2791730-2791735, 2791745-2791751, 2791765, 2794934-2794940, 2797756-2797759, 2797803-2797828, 2797839-2797844, 2797846-2797850, 2797871-2797875, 2797886, 2797890, 2797895, 2800282-2800284, 2800304-2800314
223KCNA1120.99731182795699414885020585, 5020588-5020589, 5020693
224VWF120.9504856669035841884426058184, 6058187, 6058212-6058213, 6058300, 6103092-6103126, 6120949-6120955, 6122647-6122650, 6125301-6125344, 6125692-6125728, 6125979-6125994, 6126031-6126036, 6127532-6127538, 6127637-6127661, 6127782-6127788, 6128064-6128087, 6128128-6128134, 6128170, 6128228-6128234, 6128339-6128357, 6128446, 6128784-6128790, 6131925-6131932, 6131955-6131983, 6132003-6132033, 6166099-6166100, 6166139-6166187, 6166200-6166238, 6172162
225TNFRSF1A120.983187134502922313686438492-6438494, 6438579-6438580, 6438604-6438614, 6438653-6438659
226SCNN1A120.989483310470962321876458116-6458131, 6472684-6472690
227TPI1120.94933333333333387506976731-6976736, 6976742, 6976747-6976750, 6976778, 6976796, 6976809-6976810, 6976813, 6976818-6976839
228ATN1120.980968373915486835737045600, 7045603-7045604, 7045607-7045608, 7045886-7045903, 7045911-7045912, 7045914, 7045918, 7045921-7045922, 7045925-7045936, 7046354, 7046595, 7046716, 7047131-7047154
229PEX5120.99894514767932218967343895, 7343898
230AICDA120.9966499162479125978757846, 8757854
231CDKN1B120.99832495812395159712871112
232GYS2120.9573863636363690211221712025-21712038, 21712058, 21712071-21712072, 21712088, 21712103, 21715876-21715905, 21715929-21715956, 21716205-21716212, 21716220-21716224
233ABCC9120.985806451612966465021954113, 21968755-21968762, 21968771-21968772, 21971119, 21971124-21971125, 21971140, 21971145, 21998620-21998629, 21998637-21998639, 22025570, 22063233-22063234, 22063798-22063823, 22063906-22063912, 22068656
234KRAS120.99649122807018257025368478, 25398316
235FGD4120.996088657105619230132754305, 32760965-32760972
236DNM1L120.997286295793766221132832388, 32866280, 32875546-32875548, 32890823
237PKP2120.9701670644391475251433031433-33031434, 33049463-33049465, 33049523-33049534, 33049552-33049564, 33049570-33049571, 33049574-33049592, 33049596, 33049599, 33049613, 33049645-33049665
238KIF21A120.9875651825110362498639703438, 39705350-39705355, 39709040-39709042, 39726720-39726721, 39726816, 39730900-39730912, 39734053-39734056, 39735344-39735347, 39735353-39735356, 39745616-39745622, 39756904, 39763904, 39836754-39836768
239LRRK2120.9894514767932580758440637404, 40645050-40645053, 40645129, 40651056, 40671701, 40671704, 40677807-40677808, 40677814-40677815, 40687376, 40688647, 40692185-40692195, 40692922-40692923, 40692927-40692931, 40692968, 40692976, 40693025, 40713791-40713792, 40734171-40734174, 40734183-40734188, 40734193, 40740696, 40742256-40742281, 40745458, 40748171, 40758674-40758675
240IRAK4120.964569775849649138344166791-44166815, 44171461, 44180202-44180224
241VDR120.995327102803746128448251303-48251308
242COL2A1120.9892473118279648446448369748-48369749, 48377486-48377488, 48377493, 48377498-48377504, 48377511-48377517, 48398050-48398066, 48398074-48398082, 48398096, 48398104
243PFKM120.99957319675631234348531545
244MLL2120.942578548212359541661449420120-49420121, 49420511, 49420598, 49420601-49420604, 49420607-49420608, 49420614, 49420968, 49424164-49424172, 49424175-49424180, 49424462, 49424476, 49426272-49426274, 49426571-49426574, 49426580, 49426584-49426587, 49426602-49426612, 49426617, 49426620, 49426623-49426626, 49426632-49426641, 49426653-49427233, 49427239-49427313, 49427316, 49427319-49427322, 49427325-49427327, 49427383-49427403, 49427409-49427451, 49427506, 49427525-49427528, 49427618-49427632, 49427640-49427642, 49427652, 49427734, 49428081, 49430971, 49430996, 49431287-49431323, 49431338, 49431592-49431600, 49431767, 49431828-49431836, 49431840-49431848, 49431870-49431872, 49431874-49431879, 49431890-49431895, 49431924, 49433346-49433355, 49434066, 49434069-49434088, 49434091, 49434115, 49434292-49434294, 49435058, 49435061, 49435122, 49446077-49446082, 49448431-49448433
245DHH120.9857262804366117119149483646, 49483760, 49483763-49483764, 49483844, 49484123-49484126, 49488195, 49488241-49488247
246TUBA1A120.879385964912285545649522195-49522241, 49522308-49522314, 49522578
247ACVRL1120.999338624338621151252308235
248KRT81120.9617918313570558151852681416, 52681427, 52681437, 52682999-52683005, 52684899-52684905, 52684947, 52685160-52685199
249KRT86120.967830253251247146152695754, 52695765, 52695787, 52696048, 52697949-52697955, 52698739-52698763, 52699030-52699036, 52699525, 52699903, 52699919, 52699936
250KRT6B120.93156342182891116169552841040-52841067, 52841655-52841664, 52843417, 52843635, 52845440-52845482, 52845798-52845830
251KRT6C120.9457227138643192169552862883-52862889, 52862909-52862934, 52862947-52862977, 52864945-52864951, 52865295-52865300, 52866028-52866035, 52867457-52867463
252KRT6A120.9864306784660823169552881590-52881591, 52881602, 52881613, 52881632, 52881705, 52882219-52882226, 52886907-52886915
253KRT5120.9734912577552247177352908726-52908740, 52908837, 52908848-52908850, 52908856-52908858, 52908864, 52908872-52908892, 52908899, 52908902, 52912911
254KRT1120.9726098191214553193553069214-53069216, 53069219, 53069229, 53069235, 53069241-53069243, 53069256, 53069289-53069295, 53070164-53070165, 53072486-53072488, 53072491-53072519, 53074040, 53074079
255KRT4120.997759103641464178553205633-53205636
256AAAS120.999390615478371164153702579
257ITGA7120.998248686514896342656086693, 56086695-56086697, 56086700, 56086703
258MYO1A120.9923371647509624313257422928, 57431773-57431795
259KIF5A120.9961277831558612309957965907-57965911, 57965952-57965954, 57965964-57965967
260CDK4120.99890350877193191258143008
261TSFM120.99897750511247197858176626
262GNS120.996986136226645165965141652, 65141660, 65141663, 65152915, 65153019
263LEMD3120.9864766081871337273665563625, 65563629, 65563837-65563844, 65563863-65563867, 65563870, 65563874-65563892, 65637174-65637175
264TPH2120.999321113374071147372335394
265CEP290120.95860215053763308744088443079-88443088, 88443130, 88454695, 88456519, 88457795-88457801, 88462330, 88462337-88462338, 88462375, 88465193-88465194, 88465203-88465204, 88471522-88471531, 88471551-88471575, 88471636, 88471647-88471648, 88471662, 88472939-88472973, 88472986-88473006, 88474050, 88474055-88474059, 88474063, 88477624-88477633, 88478368-88478380, 88478411, 88478443-88478452, 88478564, 88480274-88480275, 88481630-88481631, 88481640-88481646, 88487550-88487552, 88487683, 88490732, 88490764, 88490767, 88496657-88496658, 88500821, 88500825, 88500844-88500847, 88512285-88512288, 88512309-88512310, 88513936, 88519047-88519049, 88519052-88519063, 88519144, 88520131-88520148, 88520173, 88520177-88520179, 88520190-88520192, 88520195, 88522723, 88522752-88522770, 88522777-88522783, 88523471-88523477, 88523527, 88523625-88523628, 88523633-88523636, 88524079-88524082, 88524989-88524995, 88533313-88533316, 88533320-88533324, 88533327-88533329, 88533332, 88533335
266HAL120.998480243161093197496380877-96380878, 96387765
267TMPO120.996642685851327208598909890-98909891, 98909896, 98928011, 98928014-98928016
268SLC17A8120.99378531073446111770100774560-100774564, 100774580-100774585
269SYCP3120.99437412095644711102122741, 102122908, 102127421, 102127424
270GNPTAB120.9989392734022843771102224337-102224339, 102224342
271UNG120.9649681528662433942109535485-109535489, 109535512-109535516, 109535553-109535573, 109535581-109535582
272TRPV4120.9980886850152952616110236715-110236717, 110238437, 110238487
273ATP2A2120.99009268136785313129110719603, 110719607, 110719625-110719651, 110760799, 110778695
274ATXN2120.824200913242016933942111893978, 111893982-111893984, 111908485, 111947388-111947399, 111951211, 111957802, 111957806-111957807, 112036588-112037241, 112037261, 112037265-112037271, 112037281-112037282, 112037305-112037312
275PTPN11120.9988776655443321782112856920, 112856924
276TBX5120.9974309569685341557114841605, 114841611, 114841615-114841616
277TBX3120.907258064516132072232115109853, 115109862-115109865, 115109869, 115109872-115109873, 115109882-115109883, 115109887-115109888, 115109890-115109891, 115111982-115112095, 115112100-115112104, 115112106-115112109, 115112135-115112143, 115112209-115112227, 115112230-115112243, 115112254, 115112324-115112326, 115112376-115112379, 115112388-115112390, 115112397-115112398, 115112429-115112438, 115112540-115112542, 115112559-115112560
278HNF1A120.98628691983122261896121416616-121416617, 121416620, 121416697-121416703, 121434363-121434369, 121434378, 121435320-121435325, 121435364, 121435428
279EIF2B1120.998910675381261918124110995
280ATP6V0A2120.99105406456632232571124209314, 124209317, 124209324-124209338, 124228825, 124229285-124229288, 124235658
281PUS1120.917445482866041061284132414273-132414275, 132414279-132414324, 132414330-132414331, 132414334-132414340, 132414456, 132414478-132414482, 132414485-132414490, 132414494-132414501, 132414572-132414574, 132425990-132426011, 132426014-132426016
282SGCG130.986301369863011287623808797-23808801, 23808820, 23808844-23808847, 23853547, 23853550
283SACS130.988719068413391551374023907325, 23911419, 23928902, 23939311, 23949258-23949408
284CENPJ130.999004232013944401725479608, 25480437-25480439
285PDX1130.890845070422549385228494439-28494440, 28494443, 28494565, 28494569, 28498393-28498394, 28498425-28498430, 28498436-28498437, 28498452, 28498502, 28498579-28498630, 28498671-28498673, 28498680, 28498693, 28498701, 28498707, 28498734-28498743, 28498748, 28498804, 28498808-28498812
286B3GALTL130.92317969271877115149731774222-31774291, 31797091-31797098, 31835083-31835118, 31835212
287BRCA2130.99317539241494701025732893214-32893233, 32903603-32903606, 32903609, 32903625, 32905075-32905077, 32912156-32912163, 32912516-32912520, 32912524, 32912542, 32912789-32912803, 32931970-32931980
288SPG20130.9930034982508714200136905573, 36905674, 36905688-36905690, 36905730-36905732, 36909957-36909962
289FREM2130.9970557308096728951039261621, 39261638-39261645, 39261652, 39261657-39261659, 39261960-39261961, 39262057, 39263337, 39264800, 39338574, 39338583-39338587, 39422717-39422719, 39450426
290TNFSF11130.936058700209646195443148440-43148454, 43148474-43148518, 43148565
291SUCLA2130.9554597701149462139248528280, 48528339, 48528342, 48528355-48528359, 48528376-48528378, 48528381-48528383, 48528553, 48528570, 48542765-48542771, 48542831-48542834, 48547467, 48571067-48571087, 48571095-48571099, 48571102, 48571108-48571114
292RB1130.95658414065303121278748878100, 48878138-48878181, 48921978-48921979, 48923098, 48923103, 48934153, 48934214-48934263, 48939035-48939036, 48939040-48939043, 48939049, 48954365-48954377, 49030429
293ATP7B130.9972714870395612439852518286-52518297
294SLITRK1130.998565279770443209184454004-84454006
295ZIC2130.454659161976248721599100634319-100634825, 100634848-100634851, 100634855-100634857, 100634866-100634930, 100634938-100634947, 100634952-100634953, 100634967-100634973, 100634992, 100634995-100635001, 100635011-100635013, 100635039-100635046, 100635049-100635058, 100637272-100637273, 100637276-100637278, 100637577-100637578, 100637699-100637936
296PCCA130.98994055784179222187100741413, 100741420-100741421, 100764312-100764313, 100909912-100909915, 100925508, 100925571-100925572, 100962122-100962124, 100962145-100962149, 100962156, 100982860
297ERCC5130.9985845718329864239103459672-103459673, 103484043-103484046
298COL4A1130.987624750499625010110853864, 110857851-110857862, 110864237-110864240, 110864246-110864251, 110864254-110864255, 110864265-110864268, 110959336-110959368
299F7130.94082397003745791335113765018, 113765030-113765032, 113765043-113765061, 113765072-113765082, 113765088-113765089, 113765097-113765138, 113773007
300F10130.9979550102249531467113777182-113777184
301GRK1130.9964539007092261692114325967-114325971, 114426076
302TEP1140.997463216641320788420841429, 20844349-20844353, 20844381, 20844384-20844386, 20844389-20844390, 20850867, 20850870, 20854734, 20854752, 20854757, 20869663-20869665
303SLC7A7140.9980468753153623282109-23282110, 23282122
304PABPN1140.6134636264929435692123790679-23791029, 23793480-23793482, 23793488-23793489
305MYH6140.9958762886597924582023852513, 23855189, 23863353-23863354, 23863437-23863451, 23869543-23869546, 23872568
306MYH7140.9908746556473853580823889375-23889381, 23894040-23894078, 23894138-23894141, 23894145, 23894156, 23897879
307NRL140.7913165266106414971424550445-24550446, 24550463, 24550467-24550475, 24550478, 24550536-24550541, 24550553, 24550562, 24550578-24550582, 24550586-24550636, 24550642, 24550647, 24550652-24550654, 24550657-24550663, 24550668, 24550674-24550676, 24550682, 24550684-24550690, 24550695-24550732, 24550747, 24550755, 24550770-24550777
308TINF2140.995575221238946135624709845-24709850
309FOXG1140.65102040816327513147029236486-29236970, 29237305-29237317, 29237343-29237357
310COCH140.998790078644892165331344172, 31355093
311CFL2140.98802395209581650135182470-35182472, 35183744-35183746
312NKX2-1140.69900497512438363120636986580-36986603, 36986609-36986619, 36986654-36986655, 36986661, 36986664-36986668, 36986671-36986673, 36986693-36986932, 36986946, 36987028-36987030, 36987097, 36987113, 36987117-36987119, 36987199, 36988329-36988346, 36988355-36988362, 36988370-36988377, 36988379-36988381, 36988404, 36988423, 36988465-36988470, 36989288, 36989291-36989298, 36989304, 36989307-36989311, 36989315, 36989321-36989326
313FANCM140.992842036765944614745605267-45605270, 45606319-45606331, 45618081, 45623991, 45624001, 45628299-45628305, 45644508, 45644512, 45644515, 45644888-45644889, 45650846, 45650870-45650871, 45650891-45650893, 45652978-45652980, 45652986, 45667852, 45667863
314MGAT2140.999255952380951134450088131
315C14orf104140.82816229116945432251450100598, 50100601-50100602, 50100605, 50100634, 50100717-50100722, 50100770-50100781, 50100786, 50100800, 50100804-50100810, 50100826-50100833, 50100847-50100947, 50100963-50100967, 50100980-50100994, 50100998, 50101041, 50101101-50101108, 50101111-50101112, 50101131-50101170, 50101213-50101253, 50101259-50101297, 50101350-50101351, 50101355-50101359, 50101370, 50101372, 50101447-50101485, 50101518-50101565, 50101581-50101619, 50101681-50101682, 50101844, 50101847
316L2HGDH140.9928160919540210139250713779, 50713782, 50713900-50713907
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552SLC5A5190.9943064182194611193217984970-17984976, 17984981, 17984991, 17994573, 17994722
553IL12RB1190.995977878330828198918177461-18177462, 18179257, 18179261, 18188416, 18197620-18197622
554COMP190.88786279683377255227418896316, 18896520, 18896529-18896534, 18896540, 18896550, 18898433-18898443, 18899111-18899128, 18899244, 18899247-18899256, 18899271-18899319, 18899413, 18899453-18899493, 18899713-18899722, 18899986-18899997, 18900754-18900830, 18900833-18900844, 18900869-18900870, 18900919
555CEBPA190.26833797585887788107733792351, 33792450-33792465, 33792507-33792523, 33792530, 33792539-33792548, 33792550, 33792579-33793320
556SCN1B190.950433705080554080735521725-35521764
557MAG190.955874534821983188135790479, 35790485-35790487, 35790492, 35790497-35790499, 35790503, 35790642-35790643, 35790652, 35790655, 35790666-35790674, 35790677-35790679, 35790684, 35790708-35790711, 35790715, 35790718-35790727, 35790730, 35790733, 35790740-35790742, 35790747-35790749, 35790752, 35791090-35791100, 35791103, 35791124-35791128, 35791135, 35791138-35791148, 35791215, 35791219-35791221
558COX6B1190.98467432950192426136142215-36142218
559PRODH2190.9509621353196879161136297943-36297969, 36303281-36303300, 36303322-36303353
560NPHS1190.9876543209876546372636336309-36336318, 36336422, 36336621, 36336623, 36336634, 36336666-36336675, 36336686-36336688, 36337048-36337055, 36337065-36337066, 36337077-36337085
561SDHAF1190.887931034482763934836486195-36486198, 36486201-36486204, 36486232-36486261, 36486348
562WDR62190.998468941382337457236590511, 36595925-36595930
563RYR1190.950453132235237491511738931385-38931390, 38931396, 38931401-38931403, 38931407, 38931425, 38931501, 38968403, 38968472-38968473, 38976339, 38976346, 38976646-38976660, 38987510-38987511, 38987514-38987523, 38990345, 38990454, 38991273-38991279, 38993178, 38993330, 38998422-38998467, 39002725, 39008207-39008223, 39008288-39008331, 39009995, 39013869, 39014559-39014561, 39037085-39037120, 39037126-39037166, 39055609-39055634, 39055725, 39055730, 39055757-39055796, 39055802-39056178, 39056210, 39056352, 39056394, 39062743, 39062750-39062787, 39062794, 39063912-39063926
564ACTN4190.9484649122807141273639138386-39138387, 39138390, 39138393-39138405, 39138427-39138429, 39138474-39138475, 39138479, 39138482, 39138494-39138545, 39214600-39214604, 39214621-39214630, 39214845-39214875, 39214886-39214899, 39216471-39216475, 39216479
565DLL3190.84706515885837284185739990006-39990007, 39993459, 39993463-39993468, 39993471-39993510, 39993513-39993518, 39993534-39993553, 39993556-39993559, 39993564-39993576, 39993583-39993610, 39993621-39993637, 39993651-39993666, 39997724, 39997729-39997731, 39997790, 39997795-39997798, 39997810-39997895, 39997907-39997925, 39997957, 39998001, 39998006, 39998014-39998017, 39998041, 39998110-39998111, 39998115, 39998118-39998120, 39998123-39998125
566PRX190.9831281349749274438640901314-40901328, 40901637, 40901640, 40903434, 40909649-40909654, 40909686-40909706, 40909715-40909721, 40909741-40909761, 40909765
567TGFB1190.9360613810741775117341837018-41837035, 41837050-41837053, 41837059-41837060, 41837071-41837083, 41838098, 41854262-41854264, 41854267-41854271, 41854281, 41854284-41854285, 41858747-41858754, 41858762, 41858765, 41858771-41858778, 41858871, 41858874, 41858921, 41858929-41858930, 41858933-41858935
568BCKDHA190.9887892376681615133841916573-41916587
569ATP1A3190.92278412180533284367842471002-42471004, 42471008-42471017, 42471027-42471039, 42471046-42471053, 42471104-42471148, 42471170-42471191, 42471196-42471212, 42471311-42471312, 42471333-42471379, 42471435-42471449, 42480568-42480607, 42480618-42480619, 42480623, 42480626-42480641, 42480645, 42480665-42480671, 42480674-42480691, 42480694-42480704, 42480709, 42480715-42480716, 42489335-42489337
570ETHE1190.99869281045752176544011040
571BCAM190.9485956544780197188745312402-45312404, 45312407-45312408, 45312413-45312431, 45312436, 45312439-45312440, 45321861-45321865, 45322119-45322139, 45323965, 45323977, 45324035-45324050, 45324060-45324079, 45324173-45324178
572APOE190.7840670859538820695445411791, 45411874-45411878, 45411901-45411925, 45411941-45411970, 45411990-45411991, 45411994-45411995, 45412031-45412058, 45412070-45412074, 45412109, 45412122, 45412125-45412127, 45412136-45412140, 45412143, 45412184-45412190, 45412201-45412265, 45412280-45412284, 45412288-45412290, 45412316, 45412364, 45412367, 45412379-45412384, 45412436, 45412449, 45412467, 45412471-45412475
573BLOC1S3190.8095238095238111660945682581-45682582, 45682591, 45682595, 45682861-45682862, 45682865-45682869, 45682877-45682934, 45682937, 45682958-45682959, 45683029-45683040, 45683046, 45683055, 45683058-45683063, 45683065-45683074, 45683085-45683098
574ERCC2190.9864213753832731228345867079-45867080, 45867124-45867127, 45867138-45867152, 45867162-45867165, 45867169, 45867287, 45867299, 45867307, 45867353-45867354
575OPA3190.99815837937385154346032620
576SIX5190.79774774774775449222046269097-46269107, 46269721-46269752, 46269760-46269778, 46270153-46270156, 46270164-46270167, 46271447, 46271461-46271464, 46271468, 46271495, 46271510, 46271560-46271568, 46271583-46271610, 46271622, 46271633, 46271648, 46271656, 46271666, 46271721-46271722, 46271776-46272102
577DMPK190.93227513227513128189046273798, 46274271-46274272, 46285486-46285610
578FKRP190.76881720430108344148847258733-47258743, 47258826-47258830, 47258841-47258842, 47259072-47259073, 47259084-47259087, 47259090, 47259114-47259117, 47259129-47259131, 47259140-47259244, 47259252-47259290, 47259337, 47259342-47259344, 47259396-47259417, 47259426-47259518, 47259617-47259624, 47259626, 47259644-47259655, 47259663-47259675, 47259732-47259741, 47259750, 47259754, 47259812-47259814
579DBP190.7208588957055227397849138837-49139048, 49139057-49139084, 49139092-49139120, 49139123-49139125, 49140223
580FTL190.9905303030303552849468765-49468769
581MED25190.9772727272727351224450333347-50333353, 50333375-50333379, 50333768-50333772, 50333774-50333794, 50333798, 50333802-50333803, 50333806-50333807, 50334123, 50334126, 50334131, 50334136-50334139, 50338844
582PNKP190.9648786717752255156650365827-50365833, 50365838, 50365843-50365865, 50365947-50365956, 50365964-50365971, 50365981-50365986
583MYH14190.98281786941581105611150713649, 50713690, 50727413, 50727418-50727425, 50733825-50733828, 50733831-50733852, 50733858-50733860, 50762406-50762440, 50766580, 50770134-50770135, 50770228-50770231, 50770237, 50771436-50771442, 50779360-50779365, 50779368-50779369, 50779376-50779380, 50780139-50780140
584KCNC3190.57255936675462972227450823503-50823605, 50824007-50824008, 50824012, 50826347-50826348, 50826352, 50826355-50826364, 50826372-50826376, 50826406-50826428, 50826437-50826479, 50826650, 50826782, 50826785-50826788, 50826794-50826802, 50831470-50831473, 50831477, 50831483-50831488, 50831513-50831751, 50831785-50832064, 50832073-50832074, 50832077, 50832081, 50832094-50832095, 50832109-50832339
585KLK4190.98431372549021276551412508-51412509, 51412523-51412524, 51412604, 51412610, 51412618, 51412623, 51412634, 51412650-51412651, 51412666
586ETFB190.9788664745437122104151857424-51857440, 51857493, 51857498-51857500, 51857504
587NLRP12190.9943502824858818318654304544, 54313854-54313857, 54313865-54313873, 54313879-54313881, 54314401
588PRKCG190.86389684813754285209454385749-54385763, 54385778-54385830, 54385838-54385847, 54385902, 54385905, 54385908-54385913, 54385918, 54392923-54392924, 54392932, 54392941-54393002, 54393140-54393271, 54410015
589PRPF31190.9966150054632487-54632491, 54632515
590TSEN34190.971061093247592793354695317-54695338, 54696066-54696069, 54696093
591NLRP7190.9935773924213220311455450746, 55451352-55451370
592TNNT1190.960709759188853178955652653-55652670, 55656916-55656917, 55657802-55657807, 55657832-55657834, 55658376-55658377
593TNNI3190.893267651888346560955665401-55665407, 55667571-55667627, 55667639
594AURKC190.99247311827957793057744964-57744965, 57744968-57744971, 57746745
595TPO20.9614561027837310828021437242-1437244, 1437247, 1480865, 1480876, 1480882-1480884, 1480921, 1480968, 1480970-1480973, 1480984-1480997, 1481003, 1481007-1481010, 1481016-1481017, 1481033-1481048, 1481210-1481222, 1481225-1481234, 1481244-1481247, 1481268-1481274, 1481279-1481298, 1481315, 1520682
596RPS720.9880341880341975853623247-3623253
597KLF1120.9727095516569242153910183844-10183885
598LPIN120.999625888514781267311955328
599MYCN20.74982078853047349139516082187-16082198, 16082306, 16082318-16082321, 16082389-16082399, 16082404, 16082424-16082448, 16082456-16082461, 16082539-16082559, 16082649-16082847, 16082864-16082930, 16085740, 16085765
600MATN320.90622861054073137146120212214-20212216, 20212244-20212271, 20212286-20212391
601APOB20.9934998539293891369221224861-21224862, 21224870, 21230802-21230803, 21234117, 21247847-21247860, 21255276, 21266736-21266803
602POMC20.939054726368164980425384141-25384172, 25384446-25384461, 25384474
603HADHB20.995087719298257142526477136, 26477144-26477146, 26508333, 26508351, 26508412
604OTOF20.9713046379713172599426697400, 26699759-26699911, 26700103-26700109, 26700116-26700120, 26700123, 26700128, 26712593-26712596
605EIF2B420.9889705882352918163227592318-27592326, 27592330-27592334, 27592340-27592343
606C2orf7120.9873286785621949386729293550-29293553, 29293702-29293726, 29293988-29293994, 29295446-29295458
607ALK20.9956816779765621486329451795, 29451879-29451890, 30143498-30143502, 30143505-30143507
608XDH20.997751124437789400231572685-31572693
609SRD5A220.99868766404199176231805897
610SPAST20.82387898433279326185132288991-32289315, 32340884
611CYP1B120.9503676470588281163238301957-38301964, 38302026-38302027, 38302033-38302043, 38302047-38302054, 38302177, 38302195, 38302200, 38302232-38302240, 38302271-38302301, 38302435-38302436, 38302453-38302459
612SOS120.9882558720639747400239214681, 39214693-39214694, 39214697, 39216417-39216426, 39224117, 39239308, 39239318-39239319, 39240613-39240623, 39241986-39241987, 39281853, 39281861-39281862, 39281917, 39294882-39294893
613ABCG520.9703476482617658195644047109-44047112, 44047117, 44058946-44058973, 44059100-44059104, 44059123-44059130, 44059199-44059201, 44059210-44059215, 44059218-44059220
614ABCG820.997032640949556202244102343-44102344, 44102365-44102368
615LRPPRC20.9933094384707328418544128584, 44161422, 44222992-44222996, 44223000, 44223041-44223045, 44223053-44223066, 44223070
616SLC3A120.999514091350831205844547574
617SIX320.8388388388388416199945169300-45169306, 45169331-45169388, 45169430, 45169436, 45169450, 45169503-45169509, 45169525-45169530, 45169534-45169548, 45169561-45169587, 45169628-45169639, 45169645, 45169779-45169787, 45169799, 45171744-45171746, 45171749-45171759, 45171776
618EPCAM20.969312169312172994547596645-47596664, 47596682-47596688, 47606125-47606126
619MSH220.9839572192513445280547630509, 47639553-47639561, 47639567-47639596, 47639664, 47707887-47707890
620MSH620.93362723487632271408348010373-48010632, 48027557-48027558, 48033920, 48033988-48033995
621LHCGR20.9676190476190568210048982650-48982656, 48982662, 48982665-48982675, 48982683-48982685, 48982696, 48982699, 48982730-48982731, 48982737-48982753, 48982757-48982775, 48982778-48982783
622FSHR20.997126436781616208849190463, 49190475-49190478, 49190536
623NRXN120.95706214689266190442550149329, 50149340, 50149349, 50149382, 50280672, 50318506-50318507, 50780128, 51254773-51254792, 51254925-51254931, 51255121-51255122, 51255152, 51255195-51255236, 51255248-51255296, 51255302-51255346, 51255354, 51255365-51255367, 51255370-51255374, 51255387-51255392, 51255410
624EFEMP120.9365721997300994148256102093-56102096, 56102099-56102100, 56102105-56102113, 56102117, 56102121-56102125, 56102129-56102130, 56102159-56102200, 56144888-56144900, 56144966-56144981
625FANCL20.9893617021276612112858456998-58457009
626PEX1320.997524752475253121261258870-61258872
627ATP6V1B120.9584954604409964154271163085-71163119, 71190757-71190783, 71192229, 71192233
628MCEE20.905838041431265053171337138-71337184, 71351381, 71351521-71351522
629DYSF20.998899371069187636071797834-71797837, 71838462, 71847697, 71892310
630SPR20.7442748091603120178673114562-73114742, 73114783-73114785, 73114804-73114813, 73114824-73114826, 73114829, 73114832, 73114841-73114842
631ALMS120.98872360844531411250473612997-73613062, 73613068-73613074, 73613106, 73613109, 73613271-73613311, 73676182-73676188, 73676194, 73676239, 73676743, 73746943, 73786156-73786164, 73786173, 73786176-73786178, 73828342
632DCTN120.999739379723741383774596548
633MOGS20.9904534606205324251474689033, 74689908-74689911, 74690019-74690032, 74690039, 74692346-74692348, 74692352
634HTRA220.9389978213507684137774757171-74757215, 74757333-74757366, 74757386, 74757416, 74757426, 74757530-74757531
635SUCLG120.998078770413062104184650887, 84668451
636GGCX20.999121651295562227785788007, 85788529
637REEP120.947194719471953260686564602-86564633
638EIF2AK320.971948672038294335188895063, 88926568, 88926598-88926599, 88926611-88926618, 88926637-88926662, 88926677-88926680, 88926685-88926704, 88926707, 88926713-88926725, 88926730-88926732, 88926734-88926737, 88926745-88926754, 88926766
639RPIA20.989316239316241093688991287-88991296
640TMEM12720.870292887029299371796930881-96930947, 96930962-96930968, 96931090, 96931102-96931119
641SNRNP20020.999220090469515641196947576-96947578, 96950244-96950245
642ZAP7020.99946236559141186098340649
643RANBP220.943565891472875469675109347839-109347859, 109347915-109347930, 109352078-109352107, 109352595, 109352669-109352675, 109352698-109352705, 109356965-109356975, 109357110-109357135, 109363167-109363177, 109363186-109363203, 109363251-109363254, 109365376-109365394, 109367868-109367874, 109368046-109368052, 109368074-109368110, 109368126-109368132, 109368418-109368450, 109369459, 109370348, 109371385-109371391, 109374869-109374872, 109374952, 109378557-109378588, 109383051-109383058, 109383203-109383231, 109383268-109383276, 109383769-109383798, 109383888, 109384004-109384010, 109384127-109384170, 109384285-109384319, 109384469, 109384609-109384634, 109397858, 109399047-109399091, 109400297
644NPHP120.98918387413963222034110917806-110917809, 110917823-110917829, 110922699-110922703, 110922726-110922731
645MERTK20.9531413000112656313-112656349, 112656358, 112656365, 112656369-112656373, 112786025-112786029, 112786232-112786235, 112786352-112786439
646GLI220.877126654064275854761121554980, 121554985-121554988, 121555010-121555031, 121709006-121709012, 121712959, 121712964, 121726310-121726311, 121727978-121727998, 121728004-121728014, 121728019-121728025, 121728031, 121728038-121728088, 121728105-121728109, 121745826-121745831, 121745840, 121745882-121745884, 121745893, 121745908-121745915, 121745991, 121746015, 121746081, 121746088, 121746091, 121746095, 121746100, 121746108-121746111, 121746116, 121746123, 121746151-121746196, 121746203-121746207, 121746216-121746486, 121746497-121746521, 121746538, 121746546, 121746552-121746557, 121746794-121746807, 121747060, 121747162, 121747166-121747168, 121747195-121747197, 121747328-121747330, 121747353-121747354, 121747367-121747372, 121747378, 121747400-121747406, 121747589, 121747624, 121747643, 121747647-121747650, 121747658-121747669, 121747675-121747678
647BIN120.9971941638608351782127808088, 127811018-127811019, 127811021, 127864508
648PROC20.878787878787881681386128178868-128178870, 128178876, 128178880-128178907, 128180493-128180512, 128180517, 128180610-128180613, 128180627-128180639, 128180644-128180704, 128180709-128180718, 128180733, 128180739, 128180742-128180745, 128180851-128180855, 128180872, 128180878-128180880, 128180883, 128180888-128180892, 128180923-128180926, 128186108-128186109
649CFC120.82440476190476118672131279391, 131279396, 131279681, 131280373-131280477, 131280806, 131285314-131285319, 131285376-131285378
650RAB3GAP120.9938900203666182946135848700, 135887585-135887601
651LCT20.99740663900415155784136569949-136569960, 136590710, 136590732, 136590760
652MCM620.99553933495539112466136616960, 136620208-136620211, 136620229, 136626363-136626367
653ZEB220.97860082304527783645145161623-145161626, 145161629, 145274845-145274917
654MMADHC20.994388327721665891150432225-150432229
655NEB20.9919395213777916119974152362765-152362770, 152370198-152370207, 152373038, 152373043-152373044, 152373057, 152373068, 152417594-152417595, 152417610-152417612, 152417621-152417622, 152432680-152432708, 152432741, 152432782-152432836, 152432849-152432868, 152483669-152483676, 152496869-152496873, 152579948-152579949, 152584354-152584366
656CACNB420.9987204094689721563152698438, 152955488
657ACVR120.9941176470588291530158634661, 158634731-158634732, 158634742, 158634774-158634778
658SCN2A20.98587570621469856018166170493, 166170501, 166170507-166170510, 166170516-166170519, 166171983, 166172011, 166172063-166172065, 166172088, 166201091-166201097, 166201104, 166201114, 166210741-166210745, 166210755-166210770, 166211067-166211072, 166223817-166223821, 166223826, 166223832-166223833, 166223837-166223844, 166229793-166229796, 166229799, 166237618, 166237644, 166237647, 166237684-166237685, 166245227-166245233
659GALNT320.9978969505783441902166611560-166611562, 166627110
660SCN1A20.9853259963315885997166847986, 166847989, 166848553, 166848556-166848559, 166848564, 166848838-166848850, 166854557, 166866247-166866248, 166866266-166866267, 166866271-166866273, 166866340, 166892604-166892605, 166892720, 166892755-166892762, 166892769, 166892772-166892773, 166892776-166892777, 166892801-166892828, 166892840-166892846, 166896043, 166896064-166896067, 166903392, 166908261
661SCN9A20.980620155038761155934167060972-167060974, 167083098, 167083101-167083108, 167083114-167083115, 167083126-167083135, 167083157-167083161, 167083172-167083173, 167083178, 167083191-167083193, 167083199, 167084180-167084193, 167134786-167134796, 167141120-167141126, 167141286, 167144969-167144974, 167144994-167144995, 167159638-167159657, 167163065, 167163068, 167163562, 167163576-167163581, 167168093, 167168096, 167168135-167168141
662ABCB1120.99596570852244163966169820719-169820734
663SLC25A1220.99214531173294162037172644392, 172666119-172666126, 172701001, 172701018, 172750714-172750716, 172750723-172750724
664ITGA620.939865689865691973276173292517-173292698, 173352689, 173355821-173355823, 173368824-173368834
665CHN120.96811594202899441380175711645-175711660, 175742789-175742790, 175742804, 175742810-175742815, 175869622-175869640
666HOXD1320.66569767441863451032176957619-176957831, 176957872-176957897, 176957909-176957917, 176957928-176957935, 176957945, 176957960-176957973, 176957975, 176957977-176958034, 176958041-176958042, 176958046-176958047, 176958071-176958081
667AGPS20.911987860394541741977178257593, 178257597-178257608, 178257613-178257617, 178257732-178257733, 178285046-178285048, 178285055-178285079, 178326621-178326629, 178346787-178346795, 178346812-178346854, 178346894-178346896, 178346913-178346914, 178362433-178362455, 178362467-178362493, 178364346-178364347, 178372729-178372736
668PRKRA20.9639065817409834942179306403-179306422, 179312285-179312287, 179315719-179315722, 179315726, 179315734-179315739
669DFNB5920.9952785646836651059179318314, 179325081-179325082, 179325086, 179325130
670TTN20.99756603623015244100248179392333, 179392337-179392342, 179392390-179392393, 179393758-179393760, 179395107-179395108, 179404265, 179409173, 179415793, 179415811-179415817, 179415828-179415838, 179415843, 179415848, 179415881, 179422725, 179422747-179422748, 179424050-179424055, 179424327-179424338, 179425478-179425481, 179425488-179425492, 179425496-179425497, 179435158-179435161, 179437873, 179446833-179446836, 179446864, 179447904-179447911, 179447920, 179451864-179451880, 179456930, 179462265-179462270, 179466447-179466448, 179468892, 179477219, 179498645-179498651, 179502117, 179510755-179510757, 179514961, 179514965-179514966, 179514971, 179516625, 179516650, 179523903, 179534971-179534978, 179538382, 179539045-179539066, 179550258-179550280, 179554291, 179556784-179556786, 179556797, 179556800, 179559372, 179559380, 179559606, 179559630, 179563592-179563593, 179568942, 179580289-179580296, 179585352-179585353, 179599235-179599245, 179639711, 179641463-179641466, 179641476-179641481, 179643632, 179644035, 179648955, 179656843-179656845, 179656848, 179659689
671CERKL20.98811757348343191599182402912-182402920, 182412400-182412401, 182423370-182423375, 182438584, 182438587
672COL3A120.950693024312662174401189849486, 189850457-189850459, 189851804-189851812, 189853369, 189854124-189854126, 189854153-189854155, 189854158, 189856233, 189856923, 189860438-189860442, 189860446-189860447, 189860450, 189860468-189860513, 189860851-189860896, 189863407-189863432, 189867024-189867049, 189868137-189868156, 189870133, 189871663-189871681, 189871692, 189872618
673COL5A220.98866666666667514500189899785, 189909947-189909949, 189916100-189916101, 189916104, 189916907-189916914, 189916924-189916930, 189917709-189917711, 189925472-189925474, 189928727, 189928744, 189931217-189931223, 189932780-189932783, 189932786, 189932791, 189932801-189932804, 189951487, 189953459, 189953468-189953469
674SLC40A120.9982517482517531716190426900, 190436527, 190436537
675PMS120.97713469096106642799190670380, 190708798-190708799, 190717385-190717390, 190717404, 190717408-190717410, 190718731-190718732, 190718965-190718988, 190719042, 190719045, 190719050-190719056, 190719109, 190728732-190728735, 190728741, 190732532-190732538, 190742140-190742142
676MSTN20.9982269503546121128190925111, 190927124
677STAT120.99467376830892122253191859787-191859788, 191859790-191859792, 191859881, 191859885, 191859889, 191859893-191859896
678CASP820.97340754483612431617202149619-202149660, 202149677
679ALS220.99597909127463204974202574690-202574696, 202574748-202574754, 202580470, 202580477, 202580500, 202589179-202589180, 202632005
680BMPR220.9916586461341263117203242225-203242226, 203329638, 203329673-203329675, 203378538, 203378544-203378552, 203420662, 203420802, 203421170, 203421213-203421219
681FASTKD220.99343647444913142133207638966-207638969, 207638973-207638974, 207652762, 207652810, 207652867-207652868, 207652871-207652874
682ACADL20.9992266047950511293211089929
683CPS120.99378192316234284503211455596, 211455599, 211455603, 211455615, 211456649, 211460284-211460288, 211466973-211466975, 211523331-211523345
684ABCA1220.984591679506931207788215797420, 215797423, 215798881, 215815792, 215846913-215846947, 215846968-215846998, 215854145-215854151, 215854290-215854305, 215862448, 215880282-215880299, 215901710, 215901721-215901722, 215901733, 215901738, 215901765-215901767
685SMARCAL120.98464223385689442865217347528-217347557, 217347560-217347569, 217347688, 217347698-217347700
686PNKD20.98791018998273141158219204547-219204548, 219204554-219204557, 219204567-219204572, 219204576-219204577
687BCS1L20.9992063492063511260219526571
688WNT10A20.907496012759171161254219745745, 219745750-219745751, 219745763, 219745767-219745771, 219745779, 219745796, 219757661, 219757665-219757675, 219757681, 219757695-219757704, 219757717-219757740, 219757750-219757790, 219757874-219757880, 219757900-219757909
689DES20.95541401273885631413220283277, 220283409-220283442, 220283487-220283492, 220283498-220283500, 220283503-220283508, 220283513, 220283516-220283519, 220283543, 220283707, 220283710, 220283716-220283718, 220283725, 220283728
690OBSL120.858197153400118075691220416260-220416272, 220416275, 220416286-220416287, 220416292-220416303, 220416311-220416315, 220416323-220416329, 220416389, 220416401, 220416406, 220416408, 220416423, 220416457, 220416461, 220416464-220416466, 220416472, 220416480-220416482, 220416485-220416495, 220416870-220416871, 220417263, 220417266, 220417278, 220417289-220417346, 220417348-220417350, 220417358, 220417366, 220417369-220417380, 220417383-220417390, 220417402, 220417407-220417410, 220417614-220417620, 220434997-220435001, 220435006, 220435265, 220435302-220435305, 220435311-220435320, 220435327-220435651, 220435659-220435954
691PAX320.9967061923583751518223085063-223085067
692COL4A420.98104265402844965064227906872-227906873, 227906896-227906904, 227906945, 227920746, 227942704, 227942707, 227945220, 227954587-227954589, 227954599, 227958887, 227966602, 227967908-227967910, 227968696-227968732, 227973948-227973959, 227984625-227984626, 227984644-227984655, 227985824-227985828, 227985835-227985837
693COL4A320.98583682425693715013228029448-228029455, 228029463-228029472, 228029482, 228029508-228029510, 228147150-228147173, 228158024-228158033, 228163400, 228163432, 228163460-228163470, 228163477-228163478
694SLC19A320.9939637826961891491228563594-228563601, 228563984
695SP11020.9990662931839422142231048288-231048289
696CHRND20.996782496782551554233396169-233396173
697CHRNG20.996782496782551554233409141-233409142, 233409165, 233409535-233409536
698SAG20.9958949096880151218234224721-234224723, 234224734, 234224742
699UGT1A120.98689138576779211602234669016-234669036
700COL6A320.98877700860081079534238249126, 238250760-238250776, 238271924, 238283088, 238283091-238283097, 238283104, 238283338-238283343, 238283359-238283360, 238283444, 238283451-238283453, 238303431-238303469, 238303707, 238303715, 238303718, 238303727, 238303755, 238303758, 238303833-238303847, 238305448-238305454
701AGXT20.980491942324231179241808283-241808288, 241808304-241808311, 241808316, 241808335-241808342
702D2HGDH20.899106002554281581566242674755, 242674758, 242707146-242707193, 242707259-242707362, 242707377, 242707380-242707382
703IDH3B200.99654576856649411582641122, 2641132, 2641138-2641139
704AVP200.242424242424243754953063276-3063448, 3063623-3063824
705PANK2200.7694103911266839517133869787-3869793, 3869798, 3869825, 3869874-3869908, 3869916-3869921, 3869931-3869934, 3869939, 3869944-3869948, 3869955-3869960, 3869966, 3869971-3869979, 3869983-3869987, 3869989-3869993, 3869997, 3870006-3870009, 3870011-3870037, 3870094-3870357, 3870363-3870375
706PROKR2200.99913194444444111525282689
707FERMT1200.976892822025574720346064730, 6077607-6077609, 6088230-6088271, 6100184
708MKKS200.998248686514893171310389449-10389451
709JAG1200.9764834563850186365710653544-10653546, 10653557-10653558, 10653562-10653566, 10654103-10654178
710C20orf7200.9836223506743717103813782221-13782223, 13782228, 13782253-13782262, 13782268-13782269, 13797775
711THBD200.9918981481481514172823028964, 23029503, 23029593, 23029713-23029723
712SNTA1200.83662714097497248151832000146, 32031152-32031153, 32031166-32031173, 32031176-32031179, 32031194-32031426
713GDF5200.9741035856573739150634022410-34022413, 34022440, 34025142-34025150, 34025171-34025191, 34025229, 34025278-34025280
714SAMHD1200.9888357256778321188135579877-35579882, 35579903-35579910, 35580034-35580040
715HNF4A200.997192982456144142543052771, 43052780-43052782
716ADA200.9880952380952413109243252915, 43280233-43280244
717CTSA200.9612558450233858149744520213-44520267, 44520620, 44520623, 44523642
718CD40200.99040767386091883444756781, 44757567-44757573
719SLC2A10200.998769987699882162645338378, 45354883
720DPM1200.98978288633461878349557450-49557452, 49557456-49557459, 49574940
721SALL4200.9674256799494103316250408291-50408301, 50408317-50408363, 50418835-50418879
722PCK1200.999464954521131186956140188
723VAPB200.915300546448096273256964516-56964573, 57014006-57014009
724STX16200.9959100204499497857245595-57245598
725GNAS200.966124661246612573857415197, 57415200, 57415222, 57415225-57415232, 57415235-57415236, 57415241-57415244, 57415326-57415328, 57415345, 57415350, 57415353-57415354, 57415712
726GNAS200.9784842646114367311457429420, 57429438-57429441, 57429789-57429790, 57429802, 57429829, 57429853, 57429857-57429862, 57429864-57429866, 57429869-57429870, 57429873-57429878, 57429950-57429973, 57429977, 57429988-57430001, 57430005
727COL9A3200.9557177615571891205561448417-61448494, 61448938, 61448943-61448947, 61448953, 61448958-61448961, 61468585, 61472039
728CHRNA4200.969214437367358188461981232, 61992461-61992517
729KCNQ2200.88583428789614299261962078118, 62078146-62078166, 62103521-62103767, 62103776-62103805
730SOX18200.16103896103896969115562679608-62679611, 62679616-62679669, 62679742-62679743, 62679765-62680315, 62680512-62680869
731APP210.9909208819714721231327542896-27542911, 27542931-27542935
732BACH1210.9665309814563574221130701971, 30714984-30715003, 30715014-30715038, 30715045-30715051, 30715054-30715058, 30715061-30715075, 30715078
733SOD1210.98924731182796546533036103-33036107
734IFNGR2210.9280078895463573101434775850-34775922
735RCAN1210.6679841897233225275935987059-35987310
736RUNX1210.9722799722799740144336164447, 36164450-36164471, 36164611, 36259217-36259225, 36259299, 36259354-36259358, 36259363
737CLDN14210.99861111111111172037833588
738HLCS210.998624484181573218138309410, 38309414-38309415
739CSTB210.777777777777786629745196085-45196150
740AIRE210.84981684981685246163845705890-45706021, 45706440-45706472, 45709541-45709547, 45711004, 45711010-45711019, 45711039-45711045, 45712880-45712915, 45713695-45713699, 45713725-45713728, 45713732, 45713741, 45714287-45714289, 45714293, 45714373-45714376, 45714386
741ITGB2210.9779220779220851231046308608-46308609, 46308623-46308668, 46308745, 46308759, 46320278
742COL18A1210.97549857549858129526546875488-46875491, 46875520, 46876410-46876418, 46876530-46876552, 46876560-46876562, 46876616, 46876639-46876680, 46906775-46906782, 46906806, 46906857-46906858, 46906867-46906870, 46924426-46924434, 46925776, 46927475-46927486, 46930014, 46930029, 46930033, 46930149, 46932174-46932178
743COL6A1210.955296404276138308747401765-47401809, 47401830-47401841, 47410292-47410300, 47410303-47410336, 47410718, 47410721-47410722, 47419130-47419131, 47419576-47419582, 47419603-47419606, 47420673, 47420678, 47421177, 47422299, 47423394-47423399, 47423406, 47423409-47423416, 47423437-47423438, 47423477
744COL6A2210.9882352941176536306047531436-47531439, 47545843-47545844, 47545936-47545939, 47545950-47545955, 47545963-47545971, 47545977, 47545980, 47546110-47546112, 47546125, 47551926-47551930
745COL6A2210.9766081871345834247552481-47552487, 47552491
746FTCD210.9526445264452677162647565351, 47565382-47565420, 47565450-47565453, 47565457-47565460, 47565464, 47565743-47565744, 47565749-47565763, 47565768-47565776, 47565779-47565780
747PCNT210.983218459694341681001147744143-47744196, 47754449, 47754471, 47754563, 47766658, 47809276-47809278, 47809281-47809282, 47817297-47817332, 47831445-47831455, 47836721-47836726, 47847601-47847642, 47848447, 47848451, 47848490-47848495, 47850023, 47855895
748PEX26220.971677559912852691818561171, 18561197-18561202, 18561221-18561222, 18561229-18561231, 18561236-18561249
749PRODH220.840820854132287180318904406, 18904414, 18905853, 18908856-18908869, 18908875, 18908879-18908887, 18908890, 18908893, 18908908-18908925, 18923534-18923571, 18923587-18923589, 18923594, 18923603-18923800
750GP1BB220.291465378421944062119711381-19711382, 19711442-19711501, 19711505-19711516, 19711531-19711871, 19711886-19711901, 19711910, 19711920-19711924, 19711927, 19711938, 19711965
751TBX1220.38104838709677921148819748428-19748803, 19753326, 19753425-19753471, 19753476-19753487, 19753503-19753507, 19753510-19753525, 19753912-19754375
752SMARCB1220.9205526770293692115824129357-24129448
753UPB1220.994805194805196115524906728-24906730, 24906733, 24906776, 24906781
754HPS4220.999053030303032211226860341, 26860349
755CHEK2220.91766042021579145176129083906-29083912, 29083932-29083966, 29085123-29085143, 29085165-29085171, 29090033-29090057, 29091737-29091743, 29091778-29091791, 29091837-29091844, 29126408-29126417, 29126436-29126445, 29126520
756NF2220.998322147651013178830000101, 30057277-30057278
757SLC5A1220.9929824561403514199532463999-32464005, 32487624-32487629, 32487635
758TIMP3220.965408805031452263633198027-33198032, 33198051-33198061, 33198087, 33198091-33198094
759LARGE220.998678996036993227133700240-33700242
760MYH9220.9930307666156741588336684975-36684983, 36688123, 36696948-36696950, 36696956-36696964, 36698704-36698722
761TRIOBP220.97168216398986201709838119681, 38119684-38119686, 38119801, 38119879-38119905, 38119993-38119999, 38120038-38120052, 38120150-38120199, 38120300-38120306, 38120426-38120453, 38120483, 38122122, 38122125-38122129, 38122414-38122416, 38122443-38122444, 38122448, 38122462, 38122477-38122500, 38129341-38129343, 38129346, 38131028, 38147793-38147797, 38147809, 38165151, 38165154-38165155, 38165163-38165169, 38165172-38165173, 38165176
762SOX10220.90078515346181139140138369933, 38369946, 38379504-38379514, 38379522-38379524, 38379536, 38379567, 38379655-38379724, 38379729-38379735, 38379739, 38379743, 38379750-38379791
763PLA2G6220.9925650557620818242138511615, 38511622-38511628, 38535989-38535998
764EP300220.96369910282954263724541489070-41489082, 41523519-41523521, 41523525, 41523530-41523536, 41523550, 41523556, 41523559-41523561, 41533693, 41546176, 41553192-41553203, 41574081-41574087, 41574098-41574099, 41574102, 41574107, 41574112, 41574138-41574148, 41574151-41574157, 41574162-41574210, 41574213-41574216, 41574222-41574270, 41574318-41574320, 41574334-41574335, 41574340, 41574368, 41574371, 41574376-41574386, 41574395, 41574448, 41574451-41574461, 41574464, 41574484-41574499, 41574501-41574502, 41574511-41574527, 41574543, 41574546-41574551, 41574583-41574595
765TNFRSF13C220.6090090090090121755542322126-42322163, 42322219, 42322222-42322236, 42322243-42322335, 42322642-42322691, 42322719, 42322751-42322763, 42322768-42322770, 42322775-42322777
766CYB5R3220.976821192052982190643045301-43045321
767ATXN10220.9250700280112107142846067944-46068050
768ALG12220.9904567143830914146750297999-50298001, 50301492, 50301500-50301501, 50303646-50303652, 50307294
769MLC1220.9550264550264651113450502483-50502496, 50502507-50502515, 50502521-50502541, 50502549-50502551, 50502593-50502596
770SCO2220.99625468164794380150962560-50962562
771TYMP220.68391994478951458144950964213, 50964219-50964269, 50964281-50964316, 50964337, 50964340, 50964343-50964345, 50964430-50964471, 50964475-50964480, 50964486-50964570, 50964675-50964905, 50965047
772ARSA220.9606299212598460152451063576-51063582, 51063593-51063598, 51063648-51063655, 51063660-51063662, 51063665-51063666, 51063678, 51063682-51063683, 51063798, 51063803-51063811, 51063817, 51063820-51063823, 51063826-51063828, 51063831-51063835, 51064055-51064058, 51064364, 51064379, 51064388, 51066191
773SHANK3220.715102974828381494524451113070-51113132, 51113476-51113506, 51117518, 51117521, 51117559, 51133360, 51135698-51135699, 51135704-51135708, 51135951-51136143, 51144521, 51158630-51158633, 51158677-51159328, 51159415, 51159433-51159453, 51159456-51159457, 51159509, 51159556, 51160216-51160218, 51160233, 51160236, 51169151-51169162, 51169165-51169225, 51169292, 51169298, 51169308-51169740
774SUMF130.987555555555561411254508741-4508742, 4508760, 4508768-4508769, 4508772, 4508775-4508776, 4508779-4508784
775ITPR130.99631132423463081334681122, 4687323-4687334, 4829761-4829777
776FANCD230.9796195652173990441610074530-10074542, 10085533-10085539, 10088296-10088311, 10088340-10088346, 10091150-10091156, 10107087-10107093, 10114937-10114947, 10123097-10123118
777VHL30.98598130841122964210183806-10183811, 10183814-10183816
778RAF130.998459167950693194712627200, 12627203, 12645725
779WNT7A30.997142857142863105013860744, 13860754, 13860757
780COLQ30.9809941520467826136815563030-15563032, 15563040-15563054, 15563057-15563061, 15563103-15563104, 15563111
781TGFBR230.996065205171447177930648415, 30648426-30648431
782GLB130.9734513274336354203433114090, 33138503-33138550, 33138560, 33138569-33138570, 33138575-33138576
783CRTAP30.70149253731343360120633155570-33155571, 33155579-33155761, 33155776-33155790, 33155797, 33155807, 33155809-33155810, 33155817-33155823, 33155831-33155834, 33155840-33155849, 33155859-33155868, 33155873-33155925, 33155935-33156003, 33156014-33156016
784MLH130.989431968295924227137067199-37067200, 37067362-37067366, 37067370-37067385, 37067391
785SCN5A30.999320767532694588938645247, 38645274-38645276
786ABHD530.9761904761904825105043732485-43732496, 43732515-43732524, 43743816-43743818
787TMIE30.7799564270152510145946742860-46742917, 46742922-46742941, 46742953-46742956, 46742961, 46742965, 46742989-46742995, 46743017-46743020, 46743024-46743028, 46743036
788TMIE30.957537154989382047146742989-46742995, 46743017-46743020, 46743024-46743028, 46743036, 46751074-46751076
789TREX130.9837837837837818111048507964-48507981
790COL7A130.9988681380871510883548608554-48608557, 48608578-48608579, 48608582-48608583, 48612820, 48632539
791GNAT130.9344729344729369105350231244-50231245, 50231249, 50231995, 50232198, 50232206-50232247, 50232255, 50232258-50232261, 50232294-50232296, 50232300-50232307, 50232327-50232332
792RFT130.9784747847478535162653156390-53156420, 53156423-53156424, 53156428, 53156441
793TKT30.93376068376068124187253259885-53259888, 53264545-53264557, 53289852-53289958
794HESX130.976702508960571355857232225-57232227, 57232238-57232243, 57232250, 57232254-57232256
795FLNB30.9935971315149250780957994292-57994297, 57994315-57994321, 57994378, 57994440-57994444, 58062894, 58110059, 58133943, 58133946, 58133959-58133969, 58139334-58139349
796PDHB30.993518518518527108058416489-58416492, 58416536-58416538
797ATXN730.88548273431994325283863898275-63898599
798MITF30.9929622520793311156369788836-69788839, 69928330, 69928333, 69928342-69928346
799PROK230.98974358974359439071834127, 71834130-71834132
800ROBO230.9900894367899441413777147390, 77530286-77530291, 77530359, 77530363-77530367, 77600033-77600036, 77600046, 77600059, 77617535-77617543, 77637982, 77637987-77637989, 77671582, 77684113, 77684119-77684124, 77693987
801GBE130.9862494073020429210981627226, 81627232, 81643167, 81691995-81692001, 81692126, 81719991, 81754651-81754660, 81754663-81754669
802CHMP2B30.99844236760125164287294980
803POU1F130.941299790356395695487309102-87309123, 87311321, 87313471-87313500, 87313560, 87313566, 87313569
804PROS130.94879369768587104203193595820, 93595834-93595878, 93595893-93595896, 93595899, 93595907, 93595910-93595914, 93595917-93595919, 93595931, 93595934-93595937, 93595940-93595956, 93596032, 93605263, 93615443-93615453, 93615499, 93617388-93617394, 93643103
805ARL13B30.9549339549339558128793722717-93722718, 93761938, 93761982-93762032, 93762053, 93762066-93762067, 93762070
806ARL630.932263814616763856197503828, 97503854-97503889, 97506902
807CPOX30.77069597069597313136598307591-98307598, 98311907-98311909, 98311923, 98311926-98311929, 98312007-98312303
808IQCB130.9955481357818681797121515974-121515975, 121515999, 121516006, 121526240, 121526248-121526250
809CASR30.99196787148594263237122002953, 122003320-122003322, 122003494-122003495, 122003522-122003527, 122003530-122003532, 122003535-122003545
810UMPS30.97782397782398321443124456520-124456530, 124462765-124462784, 124462787
811RAB7A30.9807692307692312624128525243-128525250, 128525265-128525268
812ACAD930.995176848874691866128615334, 128620133-128620140
813GP930.9569288389513123534128780881, 128780884-128780890, 128781046-128781052, 128781059-128781066
814ATP2C130.9971929824561482850130673888, 130699431-130699433, 130699440-130699443
815NPHP330.90308039068373873993132400816, 132400820-132400824, 132400826, 132400834, 132400841-132400844, 132400854, 132410075, 132411534-132411551, 132416123, 132416147-132416152, 132423132, 132423160, 132423185-132423186, 132423206, 132423214, 132426960-132426978, 132431975-132431977, 132431980, 132431993-132431994, 132435727-132435730, 132438549-132438674, 132441003-132441009, 132441011-132441015, 132441025-132441199
816FOXL230.519009725906285441131138664537-138664539, 138664546-138664548, 138664551, 138664562, 138664565-138664568, 138664571-138664574, 138664604-138665082, 138665100-138665108, 138665123, 138665132, 138665198-138665201, 138665204, 138665361-138665376, 138665386, 138665389-138665394, 138665419, 138665439-138665446, 138665529
817MRPS2230.9981532779316721083139074569, 139075856
818PLOD230.9960474308300492277145791086-145791089, 145804639, 145809675, 145822068, 145828137, 145828195
819HPS330.9976782752902273015148863293-148863299
820GFM130.9968971631205772256158362441, 158362448, 158364669, 158399885-158399888
821IFT8030.96262886597938872328159997131-159997152, 160075278-160075284, 160093646-160093650, 160099313, 160099338, 160099350, 160099380-160099429
822BCHE30.99115533443892161809165491212-165491214, 165503937-165503941, 165503949, 165503952-165503958
823PDCD1030.9514866979655731639167414850-167414880
824SLC2A230.9949206349206381575170716104-170716105, 170720374, 170720379, 170720388, 170723137, 170736404, 170736411
825PLD130.98418604651163513225171323146-171323162, 171323183-171323185, 171323191, 171338182, 171379850-171379869, 171379953, 171427490-171427494, 171431800, 171455813-171455814
826SOX230.9465408805031451954181430187-181430190, 181430195-181430226, 181430229, 181430271-181430284
827MCCC130.9995408631772312178182770016
828EIF2B530.98938134810711232166183853227-183853230, 183862391-183862395, 183862419-183862432
829ALG330.98025816249051261317183961676, 183961680, 183961761, 183962991-183962992, 183966615, 183966622-183966631, 183966637-183966642, 183966652-183966655
830CLCN230.998146088246252697184075445-184075449
831CLDN1630.995642701525054918190127788-190127791
832OPA130.99376640419948193048193332568-193332571, 193334972-193334975, 193355043, 193355047-193355049, 193355054-193355055, 193366610, 193382698, 193382705, 193382713, 193382753
833PDE6B40.9988304093567332565647645-647647
834IDUA40.76248725790014661962980875-980877, 980885-980907, 980932, 980940, 980943-980981, 981029, 996171-996172, 996228, 996253-996257, 996262, 996520-996732, 996824-996945, 997133-997181, 997189-997193
835FGFR340.9340749896992216024271795662-1795675, 1795682-1795688, 1795694-1795696, 1795705-1795706, 1795713, 1795743-1795746, 1803205-1803221, 1803231-1803241, 1803562-1803574, 1803577, 1803597-1803603, 1803606-1803607, 1804725-1804732, 1806652, 1806658, 1808880-1808906, 1808948-1808988
836SH3BP240.9100700053850316718572819951-2820117
837HTT40.9716831053133926794293076553-3076603, 3076604-3076699, 3076722-3076724, 3076753-3076777, 3076786, 3076791, 3076801, 3101006, 3101010, 3105587, 3105594, 3117893-3117912, 3123034-3123036, 3123039, 3123045, 3123059-3123070, 3123073, 3123080-3123088, 3123102, 3127291-3127296, 3144493-3144508, 3149831, 3162028, 3182294, 3182301-3182302, 3182318, 3213775, 3213797-3213799, 3240327-3240331
838DOK740.9194719471947212215153465103-3465156, 3465233-3465278, 3478069-3478084, 3494855, 3494871, 3495021, 3495030-3495032
839DOK740.9898477157360465913494855, 3494871, 3495021, 3495030-3495032
840MSX140.721491228070182549124861627-4861877, 4864516-4864518
841EVC240.979373567608868139275578048-5578128
842EVC40.949647532729115029795713108-5713252, 5713258-5713260, 5750031, 5803735
843WFS140.995510662177331226736290834, 6293717, 6303022-6303028, 6303872, 6303886, 6303955
844SLC2A940.99938385705484116239982291
845CC2D2A40.9977380217972411486315482405-15482410, 15558979, 15559000, 15560789, 15562228, 15591212
846PROM140.9872979214780633259815993936-15993942, 16000030-16000055
847QDPR40.963265306122452773517513579-17513586, 17513604-17513608, 17513619, 17513630, 17513634, 17513640, 17513645-17513650, 17513666-17513668, 17513672
848CNGA140.9662280701754477228047938587-47938592, 47938598-47938599, 47972913, 47972928-47972930, 47972944-47972948, 47972966-47973020, 47973067-47973070, 47973110
849SGCB40.929989550679216795752894237-52894265, 52895902, 52895907-52895909, 52895943-52895947, 52895958, 52896026, 52896029, 52904396-52904410, 52904415-52904425
850PDGFRA40.998470948012235327055130024, 55130027, 55161335-55161337
851KIT40.9761173660866670293155524191-55524193, 55524196-55524198, 55524203, 55524230, 55569911, 55589837, 55589848-55589850, 55589863-55589864, 55595544-55595585, 55603376-55603388
852GNRHR40.99898682877406198768606400
853ENAM40.999708369787111342971508870
854SLC4A440.9963470319634712328572205134, 72205151-72205159, 72205163-72205164
855ALB40.987978142076522183074274429, 74274444-74274447, 74274452-74274458, 74274462, 74274466-74274467, 74275138, 74282001, 74282026-74282029, 74283269
856COQ240.9480519480519560115584194720, 84205692-84205698, 84205711-84205716, 84205741, 84205768-84205770, 84205779-84205788, 84205804, 84205813, 84205855, 84205860, 84205863, 84205872, 84205878-84205880, 84205891-84205913
857CDS140.9682539682539744138685504599-85504605, 85555014-85555016, 85555055-85555058, 85555063-85555077, 85555081, 85560140, 85562015-85562019, 85562025-85562031, 85569777
858DMP140.996653279785815149488584241-88584245
859PKD240.82077743378053521290788928886-88929358, 88929369-88929377, 88929392, 88929395-88929397, 88929401-88929405, 88929416-88929444, 88983073
860SNCA40.971631205673761242390743494-90743495, 90743505-90743506, 90749327-90749329, 90756702, 90756705-90756708
861MTTP40.98919925512104292685100504590, 100521741, 100521744, 100521747, 100521757, 100527960-100527966, 100529988, 100530008, 100530029, 100530052-100530053, 100530079, 100530108-100530114, 100530117, 100530120, 100530123, 100530127
862MANBA40.98295454545455452640103592496, 103595144-103595151, 103595159, 103595192, 103610837-103610840, 103611766, 103611801, 103611816-103611819, 103611849-103611850, 103611888-103611894, 103681939, 103681980-103681987, 103682012-103682017
863CISD240.9117647058823536408103808506-103808522, 103808569-103808587
864TACR340.9978540772532231398104577492-104577493, 104640743
865HADH40.99894179894181945108911145
866CFI40.9965753424657561752110673647, 110723111-110723114, 110723122
867GAR140.998470948012231654110745121
868PITX240.996923076923083975111542461-111542463
869ANK240.99941047667172711874114161704-114161707, 114179228, 114253203-114253204
870BBS740.97765363128492482148122754477, 122754483, 122754504-122754505, 122754509-122754511, 122765123, 122766740, 122766850, 122770074-122770075, 122770078, 122775949-122775975, 122782746-122782752, 122782755
871MFSD840.9942196531791991557128854140, 128859941, 128859946-128859947, 128859956, 128859984, 128859990, 128870970, 128878704
872SMAD140.9971387696709641398146435886-146435889
873MMAA40.97215592680986351257146560532, 146560535-146560537, 146560544, 146560548, 146576558-146576586
874NR3C240.9976311336717472955149002553, 149075978, 149075981-149075984, 149076033
875FGB40.9939024390243991476155484191-155484194, 155490421, 155490424-155490427
876FGA40.99577085736255112601155507870-155507880
877FGG40.999265785609411362155526082
878CTSO40.87577639751553120966156860568, 156860571-156860586, 156863531-156863539, 156863547-156863554, 156863563-156863608, 156864345-156864351, 156874869-156874901
879GLRB40.95113788487282731494158041708-158041754, 158041791-158041814, 158058036, 158060061
880ETFDH40.97626752966559441854159601648, 159616680-159616688, 159616727-159616760
881GK40.97653429602888391662166199189-166199202, 166199234-166199240, 166199422-166199432, 166200025-166200031
882AGA40.9980787704130621041178355604, 178355609
883SLC25A440.87625418060201111897186064527-186064637
884SDHA50.97443609022556511995218471-218475, 218480-218515, 218520, 218530-218532, 223682-223683, 251469, 254599, 256472, 256509
885SLC6A1950.99790026246719419051201779-1201782
886TERT50.8790820829655841133991266587, 1293441, 1293675, 1294481, 1294532, 1294556-1294628, 1294637-1294654, 1294666-1294672, 1294676-1294757, 1294763-1294769, 1294886-1295104
887SLC6A350.99946323134729118631403174
888SDHA50.92660550458716243271594518-1594532, 1594535-1594540, 1594550-1594551, 1594563
889MTRR50.96923783287426721787878324, 7878334-7878351, 7878354-7878357, 7883269-7883312
890CCT550.998769987699882162610256145, 10256148
891DNAH550.979531531531532841387513717468, 13717545, 13721319, 13737413-13737419, 13766139-13766141, 13766145-13766146, 13766149, 13766153-13766154, 13792211-13792213, 13810213-13810220, 13810223-13810225, 13810229-13810232, 13810235, 13810240-13810248, 13810251-13810253, 13810270, 13810273-13810275, 13810306, 13810309, 13810337-13810369, 13830847-13830848, 13841216-13841218, 13850924, 13862700, 13862709-13862710, 13862738-13862740, 13862750-13862759, 13862780, 13894759-13894764, 13894774-13894784, 13901475, 13901479, 13901492, 13916457-13916564, 13917301-13917302, 13919305-13919310, 13919319-13919324, 13919328-13919332, 13919340-13919347, 13919453-13919455, 13920683-13920697
892ANKH50.995267072346187147914746062-14746068
893FAM134B50.87817938420348182149416474866, 16483455-16483460, 16616779-16616795, 16616804, 16616808-16616809, 16616830-16616873, 16616894-16616897, 16616974-16617080
894SLC45A250.999372253609541159333944964
895AMACR50.994778067885126114934007884, 34007912, 34007916-34007918, 34007936
896IL7R50.9898550724637714138035857107-35857120
897NIPBL50.9805109922757164841536961631-36961633, 36962271-36962282, 36976291-36976296, 36984778, 37003371, 37008726, 37020931, 37022444, 37022456, 37036481-37036483, 37036523-37036561, 37036577-37036589, 37048622-37048626, 37048636-37048638, 37048645, 37048650-37048653, 37048661-37048685, 37048695-37048702, 37048708-37048729, 37052468-37052471, 37052661-37052668, 37063924, 37064074
898LIFR50.998178506375236329438482723, 38506172-38506176
899OXCT150.9865642994241821156341853564-41853570, 41862839-41862852
900GHR50.9932185706833613191742718892-42718904
901FGF1050.99681020733652262744388492, 44388590
902ITGA250.983925549915457354652285299-52285345, 52386355-52386356, 52386422-52386429
903NDUFS450.99242424242424452852899321, 52899328, 52942109, 52942197
904ERCC850.9588581024349349119160170509-60170510, 60217912-60217918, 60240770-60240773, 60240777, 60240780-60240786, 60240789-60240793, 60240800-60240809, 60240818-60240830
905NDUFAF250.845098039215697951060394819-60394833, 60448628-60448681, 60448720, 60448725, 60448734-60448740, 60448743
906SMN250.936723163841815688569362949, 69363261-69363268, 69365094-69365129, 69366530-69366532, 69366576, 69372350-69372356
907SMN250.940112994350285388570238373, 70238685-70238691, 70240517-70240552, 70241954-70241961, 70242001
908MCCC250.996453900709226169270952613, 70952620-70952622, 70952628, 70952642
909HEXB50.93536804308797108167173981110-73981119, 73981140, 73981143-73981148, 73981152, 73981172, 73981216, 73981219, 73981226-73981266, 73981270-73981273, 73981276-73981286, 73981295-73981301, 73981321-73981328, 73981331, 73981335-73981345, 73981349-73981351, 73981356
910AP3B150.94977168949772165328577311302, 77311331-77311333, 77311342-77311345, 77311357, 77411993, 77412004-77412007, 77412019-77412021, 77412032, 77425022, 77425028, 77425110, 77458680-77458690, 77471493, 77523248-77523281, 77523292-77523299, 77524005-77524010, 77524030-77524033, 77536736-77536747, 77536757-77536760, 77563351-77563370, 77563376-77563419
911ARSB50.80524344569288312160278280760-78281071
912VCAN50.9992149936218281019182779387-82779388, 82835032-82835034, 82868377-82868379
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914MEF2C50.99437412095648142288024391-88024398
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916PCSK150.996463306808138226295735657-95735662, 95743945-95743946
917WDR3650.98739495798319362856110428187-110428193, 110428196-110428198, 110432780, 110432856, 110436326-110436329, 110438044-110438057, 110439563, 110440458-110440459, 110459511, 110459536, 110459846
918APC50.99812470698547168532112111331-112111340, 112157681-112157684, 112157688, 112162811
919HSD17B450.9914066033469192211118835195, 118835199, 118850676-118850689, 118862828-118862830
920HSD17B450.989361702127663282118862828-118862830
921LMNB150.9557069846678781761126113206-126113209, 126113212, 126113232-126113242, 126113245, 126113248, 126113257-126113258, 126113281-126113283, 126113286, 126113307-126113310, 126113372-126113378, 126113443-126113449, 126113453, 126113458-126113482, 126113496-126113500, 126113506, 126154824, 126154827-126154829
922FBN250.970248312163862608739127614467, 127614472, 127614490-127614510, 127637105-127637106, 127642895, 127644993-127644996, 127645008-127645020, 127645079-127645080, 127645705-127645768, 127645799-127645800, 127654604-127654645, 127654693, 127702073-127702076, 127702087-127702123, 127863607-127863610, 127873043-127873050, 127873062-127873092, 127873112-127873133
923SLC22A550.9958183990442171674131705691, 131705820-131705821, 131705827, 131705869, 131722763, 131722768
924TGFBI50.98879142300195232052135364794-135364804, 135364807-135364818
925MYOT50.93453573814295981497137213220, 137213235-137213241, 137221737-137221750, 137221784-137221797, 137221804-137221813, 137221832, 137221859-137221870, 137222978-137223014, 137223056, 137223072
926MATR350.99213836477987202544138651834-138651836, 138651840-138651845, 138651848, 138651856-138651858, 138653331-138653333, 138658564-138658565, 138658627, 138661909
927DIAPH150.972505891594661053819140896528-140896535, 140896545-140896551, 140896554, 140896561-140896568, 140907263-140907264, 140953297, 140953301, 140953306, 140953309-140953311, 140953336, 140953342-140953344, 140953356-140953362, 140953448-140953466, 140953475-140953481, 140953489, 140953508-140953510, 140953516-140953518, 140953521, 140953548-140953549, 140953555-140953577, 140953590-140953591, 140998453
928PPP2R2B50.9962462462462551332146077640-146077644
929SPINK550.9990867579908733285147488350, 147488375, 147505157
930ADRB250.9991948470209311242148206463
931SH3TC250.99508663046289193867148389850-148389852, 148407995-148408010
932PDE6A50.9996128532713912583149240492
933TCOF150.9997704315886114356149754525
934GLRA150.98617176128093191374151304065-151304083
935ITK50.9962426194310371863156668664-156668670
936NIPAL450.97359029264811371401156887232-156887234, 156887236, 156887242-156887250, 156887254, 156887275, 156887356-156887365, 156899434-156899436, 156899455-156899463
937GABRA150.9941648431801681371161324214, 161324400-161324406
938GABRG250.9954780361757171548161495054, 161529632, 161529636, 161580193, 161580201, 161580205-161580206
939NKX2-550.993846153846156975172660034, 172660039, 172661972-172661975
940MSX250.9552238805970136804174151740, 174151743-174151745, 174151751, 174151855-174151881, 174151915, 174151918, 174151923, 174151942
941F1250.99140893470795582176830316-176830320
942F1250.9967532467532561848176830316-176830320, 176830492
943GRM650.835990888382694322634178413941, 178415978-178415985, 178415991-178416006, 178416020, 178421455, 178421500, 178421503, 178421511-178421546, 178421579-178421945
944SQSTM150.845049130763422051323179247937-179248141
945FLT450.960899315738031604092180038331-180038344, 180038350-180038371, 180038397, 180045895, 180046031-180046065, 180046108-180046109, 180046255-180046262, 180046335-180046348, 180046353-180046357, 180076488-180076545
946FOXC160.33032490974729111316621610696-1610737, 1610754-1610784, 1610803, 1610807, 1610813, 1610815, 1610822, 1610830, 1610836-1610846, 1610854-1610865, 1610872, 1610875, 1610881-1610890, 1610918, 1610964, 1610967, 1611028-1611054, 1611071-1611107, 1611131, 1611141-1611147, 1611165-1611206, 1611284-1612165
947TUBB2B60.985052316890882013383224998-3225003, 3225494-3225500, 3225617-3225623
948DSP60.998259052924791586167542192-7542200, 7575615, 7575619, 7585833-7585835, 7585987
949TFAP2A60.9756468797564732131410398776, 10398780, 10398830-10398840, 10398849-10398858, 10398866-10398873, 10410420
950DTNBP160.9450757575757658105615533477-15533480, 15533491, 15533502-15533509, 15615503, 15615506-15615511, 15615522-15615523, 15627656-15627657, 15663063, 15663068-15663100
951ATXN160.95343137254902114244816327214, 16327492-16327494, 16327497-16327498, 16327527-16327548, 16327856-16327858, 16327867-16327891, 16327894-16327903, 16327906, 16327909, 16327912-16327930, 16327933-16327959
952ALDH5A160.88767455980571185164724495263-24495265, 24495304, 24495308, 24495311-24495314, 24495318-24495319, 24495334-24495391, 24495403, 24495408-24495416, 24495421-24495430, 24495468-24495517, 24495526-24495571
953HFE60.995224450811845104726091696-26091700
954HLA-H60.898666666666677675029855837-29855872, 29855883-29855886, 29855891, 29855898, 29855901, 29855999-29856001, 29856319-29856321, 29856330, 29856351-29856354, 29856367-29856369, 29856389, 29856397-29856401, 29856516, 29856534, 29856546, 29856550-29856552, 29856584-29856586, 29856596, 29856611, 29856686, 29856693
955TNXB60.9393468118196117192931976896-31976929, 31977164-31977170, 31977388-31977394, 31977786-31977792, 31977994-31978001, 31978498-31978517, 31978578-31978587, 31979413-31979424, 31979448-31979450, 31980052, 31980074, 31980130-31980136
956CYP21A260.996639784946245148832006324-32006325, 32006337, 32007849, 32008198
957TNXB60.99096551182341151272932009631-32009664, 32009899-32009905, 32010123-32010129, 32010520-32010526, 32010728-32010735, 32011235, 32011248, 32011312-32011321, 32012303, 32012903-32012909, 32012968-32012990, 32032627, 32056580-32056581, 32056657, 32057149, 32064152, 32065862-32065864
958HLA-DQA160.906257276832605281, 32605292-32605298, 32605303-32605307, 32609179, 32609192, 32609207, 32609222-32609224, 32609229-32609230, 32609236, 32609264, 32609271, 32609286, 32609312, 32609949-32609977, 32609999-32610012, 32610436, 32610445, 32610461
959HLA-DQB160.7671755725190818378632629124-32629173, 32629190-32629213, 32629227, 32629847, 32629935, 32632575-32632577, 32632627-32632632, 32632634-32632637, 32632640-32632642, 32632655-32632666, 32632671, 32632679-32632682, 32632695-32632699, 32632709-32632747, 32632829-32632844, 32634299, 32634309-32634313, 32634316-32634317, 32634324, 32634341-32634344
960COL11A260.9859911725196773521133138140-33138146, 33139522, 33139525, 33139534, 33140102-33140107, 33140115, 33140118-33140132, 33140141, 33140144, 33140147-33140155, 33140356-33140359, 33140362, 33140372-33140378, 33141683, 33153525, 33156950-33156965
961SYNGAP160.88516865079365463403233388042-33388108, 33393575-33393680, 33399972-33399985, 33405820-33405822, 33410914-33410924, 33411197-33411221, 33411232, 33411236-33411237, 33411247, 33411392-33411399, 33411458-33411459, 33411463, 33411479-33411698, 33419583, 33419591
962FANCE60.92178770949721126161135420323, 35420329-35420417, 35420452, 35420494-35420515, 35420533, 35420553-35420563, 35420566
963TULP160.9834254143646427162935479983-35480009
964PRPH260.9884726224783912104142672167-42672178
965PEX660.9707781175671186294342936659-42936661, 42936685, 42946650-42946651, 42946654-42946664, 42946674-42946682, 42946688-42946690, 42946704-42946714, 42946729-42946773, 42946804
966CUL760.9980380616048710509743016142-43016144, 43016163-43016169
967RSPH960.8736462093862810583143612862-43612901, 43612906, 43612909-43612914, 43612918-43612919, 43612924, 43612935-43612982, 43612988-43612991, 43612995, 43613014-43613015
968RUNX260.86015325670498219156645390330-45390534, 45390638-45390644, 45480053-45480054, 45514973-45514977
969CD2AP60.9812536192047501359, 47512369, 47512379, 47512385-47512386, 47541979-47541982, 47563642-47563660, 47563690-47563692, 47575696-47575699, 47576861
970MUT60.95162006213937109225349403276, 49403298-49403299, 49409576-49409582, 49409663-49409667, 49409684, 49415497, 49419334, 49419341, 49419348-49419349, 49419353-49419366, 49419373-49419404, 49421321, 49421371-49421377, 49421381-49421386, 49421421-49421448
971PKHD160.99541922290389561222551497405, 51497418, 51497423, 51497428, 51497432-51497433, 51497436-51497440, 51611542-51611570, 51611630, 51768503, 51824727-51824731, 51887720-51887724, 51889759-51889762
972EYS60.9751987281399234943564694294-64694328, 64694351-64694357, 64776292-64776293, 64940653, 65146127, 65149055-65149097, 65149135-65149148, 65149194, 65149197-65149198, 65336095-65336099, 65336102, 65523271-65523277, 65523326-65523331, 65523334-65523336, 65523421-65523423, 65523426-65523432, 65523456-65523470, 65596636-65596638, 65596642-65596643, 65596650-65596651, 65612042, 65612045-65612047, 65622457-65622463, 66005779, 66115079-66115080, 66115146, 66115209-66115249, 66200507-66200512, 66200520, 66200527-66200529, 66200536-66200537, 66200554-66200555, 66200558-66200561
973LMBRD160.9858287122612423162370410708, 70410713, 70410716, 70410733-70410734, 70410740-70410742, 70410747, 70410757, 70410760, 70411339-70411341, 70447860, 70506725, 70506752-70506758
974RIMS160.95845638905296211507972596768-72596773, 72806836, 72889405-72889408, 72892061-72892064, 72892088-72892098, 72892115, 72892125, 72892158-72892167, 72892295, 72892301-72892334, 72892341-72892350, 72892357-72892368, 72892380, 72892383-72892388, 72892409-72892410, 72892413-72892420, 72892423, 72892432, 72892437, 72892700, 72892812-72892815, 72945406, 72945415, 72947573-72947575, 72960743, 72960767-72960776, 72974696-72974697, 72974746, 73102400-73102423, 73108681-73108684, 73108749, 73108754-73108796
975SLC17A560.91666666666667124148874304841-74304854, 74331673, 74331683, 74345125-74345136, 74351506, 74351512, 74363516-74363609
976MYO660.998963193364444385876570752, 76580397, 76599808, 76618235
977LCA560.9617956064947580209480196732-80196738, 80196743, 80196748-80196749, 80196756, 80196759, 80196826-80196834, 80196839-80196851, 80196859-80196866, 80202327-80202364
978ELOVL460.9989417989418194580631431
979BCKDHB60.9262086513994987117980838933-80838946, 80878594-80878595, 80878598-80878599, 80878721-80878742, 80880999-80881016, 80881019-80881026, 80881035, 80881039-80881047, 80881067-80881076, 80982911
980SLC35A160.9852071005917215101488210275-88210277, 88218161-88218167, 88218199, 88218206-88218209
981RARS260.994818652849749173788228552-88228558, 88265200, 88265203
982NDUFAF460.973484848484851452897339093, 97339100, 97339103, 97339108, 97339112, 97339160, 97344622-97344629
983SIM160.998696219035232301100838446-100838447, 100868747
984SEC6360.964082347788822283108204310, 108222574-108222583, 108279143-108279213
985OSTM160.95621890547264441005108375730, 108375754, 108375785-108375791, 108395535, 108395742-108395743, 108395758-108395778, 108395784-108395794
986FIG460.99449339207048152724110036320-110036321, 110106173-110106181, 110112598-110112601
987WISP360.9937444146559471119112390708-112390714
988COL10A160.998531571218832043116442255-116442257
989RSPH4A60.99209669920967172151116938375, 116938382-116938385, 116938399-116938403, 116944113-116944119
990GJA160.970409051349341149121768895-121768928
991LAMA260.99166933675104789363129371145-129371148, 129486728-129486731, 129486748-129486784, 129486815-129486817, 129513935-129513937, 129588349, 129635800-129635807, 129635920, 129670510-129670512, 129674402, 129674411-129674416, 129704293, 129794373, 129794383-129794387
992ARG160.99690402476783969131900345, 131903843-131903844
993ENPP160.92440604751622102778132129176-132129253, 132129259-132129262, 132129273, 132129282, 132129365, 132129371, 132171184, 132179808-132179810, 132179815, 132181607-132181608, 132181638, 132203485-132203600
994EYA460.97291666666667521920133767772-133767773, 133767777-133767797, 133767821, 133769249-133769275, 133804200
995AHI160.99303815093289253591135759583-135759594, 135759603, 135759608, 135776932-135776933, 135776936, 135787314-135787321
996PEX760.9146090534979483972137143804-137143814, 137143841, 137143851-137143872, 137143882-137143892, 137143910-137143921, 137166753-137166754, 137167225-137167233, 137167244-137167253, 137167318-137167319, 137191084, 137191134, 137193336
997IFNGR160.98979591836735151470137524683-137524685, 137524708-137524715, 137524805-137524808
998PEX360.96434937611408401122143789300, 143792112, 143792122, 143792131, 143792172, 143792540, 143793343-143793376
999EPM2A60.73493975903614264996146056334-146056596, 146056621
1000IYD60.9804597701149417870150713485-150713492, 150719238-150719245, 150719255
1001SYNE160.9845798287489640726394152510394-152510443, 152510451, 152510523-152510542, 152532661-152532669, 152542123, 152545675-152545680, 152545703, 152545777-152545799, 152552670-152552702, 152553297, 152553301-152553305, 152553316, 152560717, 152560742, 152583265, 152599264, 152599267-152599272, 152623035, 152631562, 152631595, 152639312-152639315, 152639319-152639320, 152639351, 152644699-152644727, 152665258-152665297, 152671357, 152675854, 152690202-152690237, 152694219, 152694222, 152694225, 152708239, 152708397, 152725348-152725377, 152725397-152725408, 152725423-152725449, 152728203, 152740757, 152740837, 152751756-152751762, 152757076-152757108, 152774751-152774752, 152774756, 152774765-152774767, 152819879-152819881, 152819884-152819886
1002PARK260.96423462088698501398161969937-161969986
1003TBP60.96274509803922381020170871007, 170871010-170871016, 170871019, 170871022-170871025, 170871039-170871050, 170871060, 170871064, 170871067, 170871070-170871073, 170871087-170871089, 170871107, 170876063-170876064
1004LFNG70.6684210526315837811402559496-2559797, 2559812-2559848, 2559863-2559901
1005PMS270.9571263035921211125896013046-6013052, 6013147-6013157, 6026642-6026685, 6026939-6026962, 6026999-6027005, 6038835-6038837, 6042090, 6043366-6043367, 6043386, 6043686-6043689, 6045523-6045529
1006TWIST170.4745484400656832060919156371, 19156378-19156399, 19156648-19156944
1007DNAH1170.99358974358974871357221583049-21583052, 21598542-21598549, 21600731, 21630618-21630620, 21630635-21630640, 21630934-21630935, 21630938, 21655844-21655891, 21726727-21726729, 21778431, 21847621-21847622, 21857905-21857908, 21857918-21857920, 21857931
1008FAM126A70.9923371647509612156623000002-23000009, 23017911-23017912, 23017917, 23017920
1009KLHL770.99772856331634176123164344, 23207595, 23213648-23213649
1010HOXA1370.61096829477292454116727239091-27239098, 27239113-27239115, 27239254-27239696
1011GARS70.99639639639648222030634584-30634591
1012GHRHR70.987421383647816127231008449-31008463, 31008480
1013RP970.7387387387387417466633134974-33134985, 33136948-33136950, 33136953, 33136957-33136962, 33148833-33148984
1014BBS970.9879879879879932266433192407-33192421, 33296857, 33296986-33296988, 33296995-33297000, 33384214-33384217, 33392479, 33545231-33545232
1015TXNDC370.992642897566513176737907449-37907458, 37907467-37907468, 37916594
1016GLI370.9829222011385281474342005102, 42005290-42005320, 42005581-42005583, 42005586-42005595, 42005600, 42005620-42005626, 42005630-42005631, 42005651-42005652, 42005661-42005665, 42005684-42005687, 42005693, 42005850-42005852, 42005857, 42005866, 42005873, 42005947, 42005950-42005952, 42011984, 42012016, 42012019, 42187901
1017GCK70.9614561027837354140144185217-44185219, 44186089, 44186095, 44186120, 44186146-44186193
1018CCM270.975280898876433133545039933-45039962, 45113127-45113129
1019DDC70.994455994455998144350596935, 50605671-50605677
1020GRB1070.9697478991596654178550682477, 50682482-50682499, 50682507-50682513, 50771545-50771572
1021EGFR70.96834571979081115363355086971-55087058, 55214316-55214329, 55220303-55220308, 55229193-55229196, 55229199, 55229233, 55229237
1022GUSB70.999488752556241195665429424
1023ASL70.9483870967741972139565548067-65548074, 65554082-65554085, 65554116-65554162, 65554263-65554275
1024KCTD770.8344827586206914487066094052-66094195
1025NCF170.910303030303037482572639983-72639989, 72640033-72640039, 72643682-72643689, 72644208-72644236, 72645927, 72648696, 72648730-72648750
1026ELN70.9889655172413824217573442527-73442538, 73442541, 73442545-73442546, 73466281-73466283, 73466289, 73466293-73466297
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1103SLC1A190.992380952380951215754490719, 4490722, 4490725, 4490746-4490749, 4490753, 4490758, 4490768-4490770
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1116FXN90.966824644549762163371650751-71650752, 71650755, 71650763, 71650798-71650804, 71650807-71650812, 71650858-71650861
1117TMC190.9824791940429340228375315500-75315520, 75315532-75315536, 75315550-75315551, 75403379-75403387, 75403397-75403399
1118TRPM690.9968693359696819606977411804-77411805, 77416915-77416918, 77417023-77417033, 77470480-77470481
1119VPS13A90.96304461942257352952579820229-79820231, 79820274-79820304, 79820894-79820916, 79820923, 79820927-79820931, 79824397, 79824402, 79824406-79824408, 79841382-79841395, 79841411, 79841418-79841420, 79841425, 79841450-79841452, 79841460, 79841468, 79843045, 79843102, 79843106-79843107, 79853014, 79862219, 79862223-79862224, 79865096-79865099, 79888267, 79890560-79890565, 79895095, 79896796, 79897054-79897060, 79898352, 79908269-79908299, 79908324, 79908342, 79908363-79908373, 79908377-79908384, 79908393, 79908397-79908400, 79908405, 79908409, 79908412, 79908415, 79908420, 79910566-79910568, 79910695, 79917932, 79928966, 79929010, 79929470-79929480, 79929577-79929580, 79930186-79930197, 79931137-79931139, 79931203-79931215, 79931236-79931241, 79931246, 79931308, 79932605-79932614, 79933162, 79933250, 79933358-79933359, 79934488-79934501, 79934527-79934546, 79937983-79937987, 79938018, 79938021-79938024, 79938037, 79938072, 79946926-79946945, 79952220, 79952237-79952239, 79952259, 79952262-79952264, 79952313-79952316, 79952446, 79954773, 79954776, 79980473, 79985483-79985485, 79996894-79996895, 79996906-79996912, 79996939-79996940, 79996945
1120AUH90.994117647058826102094118376, 94124042-94124043, 94124113, 94124159-94124160
1121ROR290.9713983050847581283294486708-94486713, 94495716, 94712172-94712245
1122SPTLC190.995077355836857142294842353-94842359
1123FBP190.999016715830881101797401539
1124PTCH190.95050644567219215434498242860-98242870, 98268689-98268781, 98270474-98270481, 98270505-98270526, 98270542-98270543, 98270551, 98270560-98270562, 98270569-98270643
1125XPA90.99635036496353822100437820-100437822
1126FOXE190.279857397504468081122100616209-100616279, 100616299-100616661, 100616670-100616964, 100616980-100616989, 100616998-100617007, 100617021, 100617047-100617075, 100617084-100617087, 100617099-100617105, 100617111, 100617115-100617120, 100617181-100617188, 100617281-100617283
1127TGFBR190.92923280423281071512101867488-101867584, 101900233-101900237, 101900256-101900259, 101900265
1128ALG290.9960031974420551251101983920-101983924
1129INVS90.99562226391495143198102866893, 102866907-102866908, 103015384, 103015389, 103015395, 103035255-103035262
1130ABCA190.99749484232243176786107562101, 107588129-107588139, 107588142, 107588145, 107588149, 107594997, 107645408
1131FKTN90.99134199134199121386108370161-108370163, 108370174-108370175, 108370183, 108370199-108370201, 108370208-108370209, 108382274
1132IKBKAP90.9997499374843713999111660809
1133MUSK90.9988505747126432610113445064-113445066
1134DFNB3190.946402349486051462724117266697-117266702, 117266762-117266764, 117266767-117266769, 117266817-117266819, 117266823-117266829, 117266832-117266883, 117266930-117266990, 117267005-117267013, 117267016-117267017
1135CDK5RAP290.99454417458641315682123253705-123253722, 123280869, 123280911-123280917, 123301321, 123301435-123301438
1136GSN90.990208599404232349124062174-124062181, 124062192-124062200, 124062206, 124062218-124062221, 124062234
1137NR5A190.883838383838381611386127245140-127245141, 127245147-127245176, 127245183-127245190, 127255322-127255337, 127255348, 127262457-127262459, 127265403-127265448, 127265470-127265499, 127265581-127265591, 127265594, 127265602, 127265607-127265618
1138LMX1B90.783735478105452421119129376811, 129376816, 129376828-129376833, 129376839-129376842, 129377662-129377848, 129455803-129455806, 129455818-129455821, 129455829-129455845, 129456034-129456041, 129456074-129456083
1139STXBP190.97958057395143371812130374683-130374719
1140ENG90.96611026808295671977130587521, 130587532-130587539, 130587550-130587552, 130588022, 130588025, 130588029, 130588072-130588116, 130588133-130588139
1141GLE190.97186456843109592097131267088-131267131, 131267165-131267170, 131286051, 131287671-131287678
1142DOLK90.9981447124304331617131708898-131708900
1143TOR1A90.9509509509509549999132586193-132586215, 132586264-132586271, 132586276-132586279, 132586287, 132586300-132586309, 132586348-132586350
1144ASS190.9991928974979811239133333842
1145SETX90.99427433408016468034135139889-135139893, 135139896, 135139901, 135158762-135158786, 135202104-135202117
1146TSC190.99141630901288303495135771984-135771994, 135771999-135772008, 135772011-135772012, 135772016-135772018, 135772914, 135782221, 135798864-135798865
1147CEL90.772787318361965162271135937446-135937455, 135944192-135944228, 135944521-135944527, 135944583-135944589, 135945985-135946018, 135946472-135946494, 135946508-135946509, 135946512-135946513, 135946516-135946517, 135946520-135946522, 135946526-135946530, 135946650-135947026, 135947095-135947101
1148SURF190.9235880398671169903136223124-136223138, 136223276-136223329
1149ADAMTS1390.952380952380952044284136293754-136293891, 136295064-136295067, 136295070-136295071, 136295075, 136295086, 136295096-136295100, 136302014, 136302017-136302018, 136302029-136302044, 136302053, 136302056-136302058, 136307852-136307861, 136308669, 136321707, 136321736-136321743, 136321753-136321760, 136321765, 136321768
1150SARDH90.98585418933624392757136535739-136535746, 136535750, 136550315-136550332, 136597638-136597647, 136597651, 136597656
1151COL5A190.980242885626251095517137534034-137534142
1152LHX390.858560794044671711209139089366, 139089369, 139090511-139090512, 139090571, 139090652-139090666, 139090754, 139090779-139090783, 139090793-139090803, 139090807-139090813, 139090820-139090825, 139090833-139090905, 139094794, 139094822-139094868
1153INPP5E90.893023255813952071935139325454-139325460, 139326276, 139326314-139326318, 139326338-139326339, 139327034, 139333142-139333145, 139333148, 139333150, 139333152-139333159, 139333205-139333208, 139333213-139333216, 139333259, 139333319-139333324, 139333327-139333334, 139333343-139333345, 139333411, 139333457, 139333483, 139333500-139333511, 139333626-139333627, 139333630, 139333633, 139333684-139333696, 139333753-139333871
1154NOTCH190.960485133020343037668139390561-139390586, 139390851, 139390899-139390968, 139390975-139390986, 139390999, 139391002-139391004, 139391064-139391076, 139391549-139391564, 139391572-139391574, 139391772-139391779, 139391794-139391806, 139391816-139391823, 139391875-139391881, 139391991, 139396823-139396836, 139396878, 139396885, 139396895-139396897, 139396900-139396907, 139399232-139399233, 139399237-139399240, 139399246-139399250, 139400144-139400145, 139400274-139400275, 139401081-139401082, 139401085, 139403334, 139403371-139403377, 139403511-139403513, 139411778-139411780, 139412330, 139440178-139440238
1155AGPAT290.85065710872162125837139571037-139571061, 139571463, 139581666-139581681, 139581689-139581722, 139581725, 139581732-139581737, 139581740-139581741, 139581753-139581761, 139581763, 139581766, 139581781-139581809
1156SLC34A390.944444444444441001800140127803, 140127829, 140128315-140128393, 140128582, 140128590, 140128604-140128606, 140128683-140128687, 140128872, 140128881, 140128884, 140128895, 140130500-140130502, 140130679, 140130802
1157EHMT190.98588657942007553897140513481-140513501, 140605425-140605434, 140637823-140637824, 140638533, 140708930-140708948, 140729308, 140729329
1158SHOXX0.9453924914675848879591767, 595485-595488, 595507, 595510, 595523, 595526, 605159-605192, 605252, 605266-605267, 605281-605282
1159CSF2RAX0.9992337164751113051422198
1160ARSEX0.99943502824859117702871225
1161KAL1X0.994126284875181220438699998-8700009
1162GPR143X0.963921568627454612759707539-9707546, 9709421-9709424, 9709437-9709440, 9733648-9733653, 9733677-9733685, 9733692-9733700, 9733748, 9733751-9733755
1163RPS6KA3X0.9914529914529919222320174269-20174271, 20284718-20284721, 20284737-20284741, 20284744-20284750
1164SMSX0.9854677565849216110121958976-21958991
1165ARXX0.71758436944938477168925025299-25025303, 25025366-25025369, 25031165-25031169, 25031222-25031225, 25031228-25031229, 25031235-25031254, 25031262-25031266, 25031293-25031294, 25031322-25031334, 25031343-25031350, 25031369-25031413, 25031417-25031423, 25031438-25031471, 25031480-25031486, 25031524-25031835, 25031879-25031882
1166GKX0.999398315282791166230745625
1167DMDX0.99819135467535201105831514993-31514996, 31515007-31515014, 32305750-32305753, 32509506-32509509
1168RPGRX0.89418907198612366345938145317-38145625, 38145635-38145664, 38145667-38145670, 38145679, 38145683, 38145687, 38145690, 38145702, 38145705, 38150218-38150234
1169TSPAN7X0.966666666666672575038534993-38535017
1170BCORX0.999810174639331526839932125
1171NYXX0.7088520055325421144641332856-41333241, 41333368, 41333371-41333376, 41333382-41333409
1172SYN1X0.83191690273843356211847433432-47433470, 47433487-47433529, 47433552-47433786, 47433804-47433810, 47433906, 47478806-47478811, 47478821-47478838, 47478842-47478844, 47479108-47479111
1173CFPX0.995744680851066141047488928-47488933
1174WASX0.998674618952952150948547234-48547235
1175SYPX0.99787685774947294249056644-49056645
1176CACNA1FX0.999662959218072593449087348, 49087351
1177KDM5CX0.999786461669871468353223598
1178FGD1X0.99757449757457288654497111-54497112, 54521593-54521596, 54521599
1179ARX0.9761129207383366276366765170-66765211, 66766363-66766386
1180EDAX0.9753401360544229117668836377-68836388, 68836395-68836411
1181DLG3X0.999592502037491245469665116
1182MED12X0.9940312213039539653470338605-70338634, 70338645-70338651, 70338675, 70338679
1183GJB1X0.99882629107981185270444389
1184TAF1X0.97342485040479151568270586165-70586276, 70586306-70586344
1185SLC16A2X0.88762214983713207184273641315-73641338, 73641347-73641350, 73641361-73641366, 73641376-73641419, 73641435-73641489, 73641549-73641578, 73641586, 73641713-73641716, 73641731-73641769
1186ATRXX0.998796630565589747976855923-76855931
1187BRWD3X0.9914956553891746540979942409, 79942473, 79991575-79991587, 80064940-80064970
1188CHMX0.999490316004081196285218872
1189PCDH19X0.9882032667876639330699663548-99663586
1190ACSL4X0.9995318352059912136108911402
1191CUL4BX0.9985412107950442742119673129-119673132
1192OCRLX0.9996304508499612706128674428
1193GPC3X0.9994262765347111743133119396
1194HPRT1X0.9589041095890427657133594342-133594368
1195SLC9A6X0.97673314339981492106135067680-135067683, 135067696-135067701, 135067851-135067852, 135067857, 135067876-135067901, 135067951-135067958, 135067981-135067982
1196ZIC3X0.911680911680911241404136651061-136651166, 136651174-136651181, 136651196-136651205
1197SOX3X0.616703952274425141341139585886-139585987, 139585997-139586003, 139586029-139586033, 139586054-139586080, 139586091-139586096, 139586119-139586156, 139586166-139586171, 139586177-139586179, 139586192-139586461, 139586481-139586486, 139586489, 139586496-139586524, 139586548-139586551, 139586576-139586580, 139586591-139586595
1198FAM58AX0.9823129251700713735152864466-152864472, 152864500, 152864516-152864520
1199SLC6A8X0.862683438155142621908152954030-152954291
1200ABCD1X0.998212689901742238153008675-153008678
1201L1CAMX0.9992050874403833774153137610-153137612
1202MECP2X0.95858383433534621497153363061-153363122
1203OPN1LWX0.98447488584475171095153409798, 153416403, 153418510-153418519, 153420066, 153420096-153420099
1204OPN1MWX0.655707762557083771095153448176-153448186, 153448201-153448248, 153448260-153448278, 153453322-153453346, 153453416-153453423, 153453442-153453496, 153453531-153453537, 153455586, 153455590, 153455598, 153455633-153455653, 153455661-153455697, 153457196, 153457226-153457261, 153457275-153457318, 153457340, 153458956-153459010, 153459042, 153459046, 153459072, 153459079-153459080, 153459120
1205OPN1MWX0.643835616438363901095153485294-153485304, 153485319-153485366, 153485378-153485396, 153490440-153490464, 153490534-153490541, 153490560-153490614, 153490652, 153492697-153492719, 153492751-153492771, 153492779-153492815, 153494314, 153494344-153494379, 153494393-153494436, 153494458, 153496074-153496129, 153496160, 153496164, 153496190, 153496198
1206FLNAX0.99735649546828217944153581690, 153599242-153599245, 153599258-153599271, 153599549-153599550
1207IKBKGX0.98428961748634231464153788622-153788641, 153788736, 153788739-153788740
1208USP9YY0.9962180490349529766814898526-14898541, 14898559-14898567, 14898571-14898572, 14898577-14898578
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5PKD2-S804Nhet unknown0.008Dominant
pathogenic
High clinical importance,
uncertain
Predicted to cause autosomal dominant polycystic kidney disease, but without control allele frequency the report cannot be tested for statistical significance.
5SLC9A3R1-R153Qhet unknown0.008Dominant
pathogenic
Moderate clinical importance,
uncertain
This variant was reported in a small family, associated with kidney stones. This gene is strongly associated with causing kidney stones and osteoporosis, and the variant is computationally predicted to be damaging, but the reported cases for this variant were too few to establish any statistical significance.
4PKD1-I4045Vhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
4PKD1-P3412Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4PKD1-E2966Dhet unknown0.053Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests with associated GeneReview
4PKD1-W2882Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
4PKD1-R739Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
4RHO-G51Ahet unknown0.016Dominant
pathogenic
Moderate clinical importance,
uncertain
Implicated in autosomal dominant retinitis pigmentosa, but published observations lack statistical significance. Other variants at this position have strong evidence, but this variant had less severe consequences in functional studies. Also contradicting a pathogenic hypothesis is the fact that it has been seen in a presumed-healthy PGP individual (African American) and in one other presumed-healthy public genome (Nigerian).
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5ABCG8-D19Hhet unknown0.043Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests
2.5ABCG8-T400Khet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
2.5ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5RPGRIP1L-G1025Shomozygous0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-A229Thet unknown0.055Unknown
pathogenic
Low clinical importance,
likely
This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2MTRR-I49Mhomozygous0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
2MTRR-L360Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2OPTN-M98Khet unknown0.055Unknown
pathogenic
Moderate clinical importance,
uncertain
This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.
2OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2CA2-N252Dhet unknown0.051Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2TPMT-R215Hhet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
2TPMT-R163Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
2ANKK1-R185Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.822 (possibly damaging)
2ANKK1-A239Thomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
2ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2ANKK1-E713Khomozygous0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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.
1.5ABCG5-R50Chet unknown0.070Unknown
protective
Low clinical importance,
likely
This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.
1.375DSP-L1489Rhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Unreported, rare and predicted to be damaging. Some dominant variants in this gene are reported to cause Arrhythmogenic Right Ventricular Dysplasia -- this effect is contradicted by the presence of this variant in a healthy PGP participant, although penetrance is reported to be variable. Other recessive missense variants in this gene are reported to cause Skin Fragility-Woolly Hair Syndrome.
1.375DSP-Y1512Chomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.25PEX1-I696Mhet unknown0.016Recessive
pathogenic
High clinical importance,
uncertain
Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.
1.25PEX1-N271Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CUL7-R852Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ESCO2-I508Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ESCO2-P579Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FUT6-E247Khet unknown0.143Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
1FUT6-P124Shet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
1NPRL3-A495Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NANOGP1-Q136Ehomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PMS1-M394Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1PMS1-G501Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PMS1-Y793Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I29477Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V28135Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26092Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R21620Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R21422Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P20671Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAMDEC1-I81Thomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAMDEC1-M121Thomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1ADAMDEC1-P439Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.642 (possibly damaging)
1GPR98-I707Lhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-W4969Rhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RYR1-G893Shet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Rare, tentatively evaluated as benign. Some recessive missense variants in this gene are reported to cause malignant hyperthermia and central core disease, but this variant occurs outside of the amino acid regions where these pathogenic variants typically occur.
1RYR1-S1342Ghet unknown0.047Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RYR1-E1898Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RYR1-N4627Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
1CYP2B6-I328Thet unknown0.063Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-S220Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.574 (possibly damaging), Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf71-S1225SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C2orf71-P1089Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1FLT4-S26Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1IGF2R-T1184Shomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
1IGF2R-R1619Ghomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-L160Fhomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-P341Lhet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
1SLC22A1-M408Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ECT2L-W440Ghomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
1PPEF2-S575Chomozygous0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
1PPEF2-R553Khomozygous0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.669 (possibly damaging)
1PPEF2-M481Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1PPEF2-W446Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PPEF2-R118Chomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1MTHFD1-T761Mhomozygous0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1CDKN1A-S31Rhet unknown0.271Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-I30VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-A142VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-W144*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HLA-L-C172YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCN5A-H558Rhomozygous0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCP-L836Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-G145Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
1CPN2-V536Mhomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
1CPN2-Q509RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CPN2-A305Thomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1TNXB-W458Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R452Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SH2B3-W262Rhomozygous0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CLECL1-P95Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZXDA-P147Shomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
1ZXDA-P47Lhomozygous0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PHKA2-T158Ahomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.555 (possibly damaging), Testable gene in GeneTests
1DEFB124-Y58Chomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-M1764Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NHS-P551Shomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1NHS-F1319Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FLG-S3935Phet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S3640Ahet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-R3375Whet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.987 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-Y2194Hhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-K2192Qhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S2152Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-H1961Qhet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-T1488Nhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S1184Lhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S742Yhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-T454Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
1GSTM1-C78Rhomozygous0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ARMS2-A69Shomozygous0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-G935Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
1COL6A2-I1015Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.85 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDK5RAP2-R1045Thomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CDK5RAP2-V12Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HRNR-A2764Shomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H2762Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R2761Qhomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-L2688Shomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H1218RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y563Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S485Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1L1CAM-P10Shomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.674 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1AX746750-S137Shifthomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRMD7-M78Vhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCC2-R353Hhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
1ABCC2-C1515Yhet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HTR2C-C23Shomozygous0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
1MED12-G1884Shomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.75RYR2-R298Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75RYR2-G385*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.
0.75KCNQ1-A486Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNQ1-E487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75WNK1-S2358Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75WNK1-L2359Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625EIF2B5-I587Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.625EIF2B5-V666Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.625NAT2-G286Ehet unknown0.065Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.625CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625CACNA1S-E614Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5DNAH8-G807Ehomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-T2444Nhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.838 (possibly damaging)
0.5DNAH8-A3098Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DNAH8-I4271Vhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLL1-E522Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5HEATR2-L276Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5HEATR2-R560Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5HEATR2-V632Ahet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5HEATR2-R743Khet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IQCE-H643Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5GAD2-P346Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5GPRIN2-R5Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5GPRIN2-L39Vhet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5GPRIN2-R40Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5GPRIN2-V47Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5GPRIN2-W91Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN2-T100Phet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.161 (benign)
0.5GPRIN2-S104Ghet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN2-P169Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5GPRIN2-G202Whet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.429 (possibly damaging)
0.5GPRIN2-A233Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5GPRIN2-E240EMREhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GPRIN2-R239Khet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.461 (possibly damaging)
0.5GPRIN2-R242Ghomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN2-V375Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRIN2-L400Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRPS18B-P230Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5RAET1G-L141Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAET1G-P76Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5RAET1G-V74Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5RAET1G-S68Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAET1G-T38Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V5606Lhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Tentatively classified as benign, although Polyphen 2 predicts a damaging effect. Other recessive variants in this gene are reported to cause Emery-Dreifuss muscular dystrophy or spinocerebellar ataxia, but these are generally more severe and/or far earlier in the peptide sequence.
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K3874Thet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-Q1709Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FNDC1-T438Ahomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-P491Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5FNDC1-D1180Ehet unknown0.776Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-TRRTTT1479Delhet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1504Khet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-T1574Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5VWDE-F1485Chomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Q1411Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-P1407Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-I702Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWDE-S607Fhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-A351Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWDE-G340Dhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPOCK2-T184Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2W1-M81Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5INMT-R137Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5INMT-F254Chet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5BMPER-R582Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-V92Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEBL-R694Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5NEBL-N654Khomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.536 (possibly damaging)
0.5NEBL-P4Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SNX13-L224Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ABCB5-E970Khet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB5-Q1195*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-I1538Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-L2331Vhet unknown0.008Unknown
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-T3471Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-L4131Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFE2L3-E230Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SAMD11-R41Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MBL2-M1Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPSR1-N107Ihomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPSR1-S241Rhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5NPSR1-Q344Rhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCE-S204Lhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCE-A502Thomozygous0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (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-F41Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.151Unknown
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
0.5COL12A1-G3058Shomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.952 (probably damaging)
0.5COL12A1-R1742Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5COL12A1-I1738Thomozygous0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DTNBP1-R292Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.637 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TCTE1-R133Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TCTE1-P35Lhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.408 (possibly damaging)
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R3Chet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1207Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PNRC1-P252Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROS1-D1776Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LAMA2-A468Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-G1584Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-T2634Ahet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMP6-R257Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZNF311-K511Qhomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF311-E149*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FIG4-V654Ahomozygous0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-Y102Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihet unknown0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-L281Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BMPR1A-P2Thomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2976Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-V2127Mhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMGN4-D88Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5PCDH15-T1875Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-V1183Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-A573Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-G385Shet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACN9-F53Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GATA3-N52Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CORO2A-L497Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5MTFR1-D78Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPS28-L89Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CNGB3-L498Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.307 (possibly damaging), 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-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-G15Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANKS6-P735Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANKS6-V644Ihomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RB1CC1-L45Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5FGFR1-P770Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR124-C1084Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DFNB31-R882Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R223Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAM9-A234Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5INVS-G801Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-L308Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAM32-M668Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5NBN-T452Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.358 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-FDLLFFCVVDLACQNFI942Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-V3162Ihet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A2194Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-K1427Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-G815Rhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R988Phet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.228 (possibly damaging), Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-I1708Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1729Ahet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.486 (possibly damaging), Testable gene in GeneTests
0.5TG-A2422Thet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-N2616Shet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-S1077Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-A1970Phet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5SLC1A1-F50Yhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDKN2A-A127Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNV2-M285Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5KCNV2-L533Vhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM84B-P278Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5TRMT12-D195Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRMT12-D195Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5VPS13B-V2559Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-R3696Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI1-V487Ghet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBAP2-N606Shet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5UBAP2-S568Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5UBAP2-R14Qhet unknown0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.353 (possibly damaging)
0.5KLF10-T189Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KLF10-R186Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5IFNK-W13Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IFNK-K133Ehomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPS1-T795Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKHD1L1-F256Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.761 (possibly damaging)
0.5PKHD1L1-Y440Hhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PKHD1L1-Y943Hhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-N1005Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-T1192Ahet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5PKHD1L1-R1514Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-V1965Lhomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1L1-R2572Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5PKHD1L1-H3050Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1L1-V3182Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKHD1L1-V4220Ihet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5CEP110-R509Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-G51Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BC032716-M89Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LAMB1-Q1022Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMB1-V670Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.944 (probably damaging)
0.5LAMB1-P379Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.934 (probably damaging)
0.5DBH-A211Thomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBH-R549Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.613 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DBH-R549Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.613 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EXD3-V504Mhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-E322Dhet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R268Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5EXD3-R220Qhet unknown0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R20Qhomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF394-R181Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5BAIAP2L1-V112Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5AKR1E2-P110Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R336Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5GLI3-T183Ahomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNTLN-T284Ahet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CNTLN-D553Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CNTLN-T695Ihet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNTLN-I1349Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5IDI2-*228Chomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IDI2-Q15*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PKD1L1-A2685Thet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.035 (benign)
0.5PKD1L1-R2358Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5PKD1L1-R2281Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.709 (possibly damaging)
0.5PKD1L1-P2021Lhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5PKD1L1-K1272Ehomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKD1L1-R1053Phomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PKD1L1-T1002Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L1-P925Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5PKD1L1-T879Ahet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PKD1L1-L403Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5PKD1L1-V312Fhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CFTR-V470Mhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPAM1-F6Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5PRKAG2-S20Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.201 (possibly damaging), Testable gene in GeneTests
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MLL3-G845Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR5A1-G146Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1967-Q760Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5GFRA2-P249Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GFRA2-E15Dhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TMEM176A-T122Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM176A-S156Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.88 (probably damaging)
0.5TMEM176A-T208Ahet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDIA4-T173Mhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
0.5SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.494Unknown
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
0.5ZNF800-P20Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SVOPL-F385Chet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5SVOPL-H154Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PARP12-A620Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PARP12-V463Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.867 (probably damaging)
0.5PARP12-V293Ihet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP20-D359DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP20-V444Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5OR9A2-R298Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.103 (benign)
0.5OR9A2-Y248Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FHDC1-R174Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FHDC1-R639Chomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5SH3PXD2B-P826Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SH3PXD2B-ER542Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH3PXD2B-D515Nhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CEP170-N924Khet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTR-R52Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTR-V345Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYS1-R154Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5HS1BP3-G273Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HS1BP3-R48Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ALK-D1529Ehomozygous0.606Unknown
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
0.5TRIM54-Y295Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GNPAT-S9Fhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-Q502Rhet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-D2106Ehet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-V2720Mhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.839 (possibly damaging)
0.5OBSCN-G2789Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OBSCN-A3300Thet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.552 (possibly damaging)
0.5OBSCN-G4039Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-H4489Qhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4516Whet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-R4534Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-R5575Hhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.276 (possibly damaging)
0.5OBSCN-Q5891Ehet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5CRB1-H1199Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.104 (benign), Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-V2243Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F13B-R645Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.896 (probably damaging)
0.5F13B-R115Hhet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5PKP1-I196Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKP1-C446Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CR1L-R116Ghomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-Y179Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-A221Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.504 (possibly damaging)
0.5CR1L-N402Dhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-C475Yhet unknown0.024Unknown
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)
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
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
0.5LAMB3-V527Mhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMB3-S438Thet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NLRC4-Y367Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5CYP1B1-R48Ghomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGA6-D766Yhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC40A1-Q248Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM119A-T192Ihomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.5FAM119A-Y177Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPIL3-D146Ehet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PPIL3-P94Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5018Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-L1742Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP1B-Q3734Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP1B-R1890Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5PDCL3-K108Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5EIF2AK3-A704Shomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-G584Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-I217Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL1RL2-I237Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5IL1RL2-L550Phet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT1C4-D5Ehomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5YSK4-E676Qhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5YSK4-C351Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MERTK-R466Khomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-N498Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-V870Ihet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP2-T1576Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging), Testable gene in GeneTests
0.5CFHR5-G145Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB4-W128*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TMEM54-L110Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5KCNQ4-H455Qhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAST2-D388Ehomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-I659Mhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5MAST2-D1551Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5STIL-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
0.5FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5TAF12-T145Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging)
0.5AIM1L-E409Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5AIM1L-S249Nhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHG5-E779Delhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHG5-E779Delhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLEKHG5-T294Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1751-*763Qhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1751-G739Shifthet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5KIAA1751-A732Shifthet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5KIAA1751-G628Chet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1751-R508Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5KIAA1751-I363Vhomozygous0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1751-R307Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TNFRSF18-K233Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5PARK7-A56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR157-A223Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
0.5SPEN-D2007Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5SPEN-N2360Dhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLOD1-H473Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.264 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX14-R320Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRIQ3-A558Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-M129Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.819 (possibly damaging)
0.5COL24A1-P1067Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5COL24A1-A61Vhomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLAMF1-P333Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ETV3L-R151Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5NES-S1466Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.312 (possibly damaging)
0.5NES-G1407Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5NES-P1275Lhet unknown0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NES-P1101Lhet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5TOR1AIP1-M146Thet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-Q293Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-E945Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5TEDDM1-L54Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5JTB-I83Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL11A1-S1547Phet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-Q229Rhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYPL2-Y91Fhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.509 (possibly damaging)
0.5SYPL2-R148Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RSBN1-Q769*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAMTSL4-A193Phet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL4-M838Vhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE4DIP-D1910Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-R1867Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-A1757Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDE4DIP-A1709Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5PDE4DIP-Q1665Shifthet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PDE4DIP-H1598Rhet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PDE4DIP-L1565Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5PDE4DIP-R1504Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1454Ehet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5PDE4DIP-W1396Rhet unknown0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-K1359Ehet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5PDE4DIP-S1265Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5PDE4DIP-A1066Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5PDE4DIP-F1013Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-C708Rhomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PDE4DIP-R681Hhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PDE4DIP-R622*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PDE4DIP-S536Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.914 (probably damaging)
0.5PDE4DIP-A487Shifthet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PDE4DIP-H482Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE4DIP-E410Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PDE4DIP-S275Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.419 (possibly damaging)
0.5PDE4DIP-R25Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CD101-M415Vhomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD101-R933Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-A1119Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), 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
0.5ABCA12-N237Hhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5TET2-P29Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAJB14-H141Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-S429Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.361 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DCHS2-R1438Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DCHS2-S1205Lhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5DCHS2-N897Shomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-L843Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5DCHS2-S344Lhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-H174Rhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5DCHS2-V153Ahet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.227 (possibly damaging)
0.5IFIT1B-G180Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5INTU-S462Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5INTU-C692Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5INTU-C711Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCG2-Q141Khet unknown0.131Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging)
0.5SPP1-R301Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SPATA18-T488Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KCTD8-R459Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5GRXCR1-M258Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IGFBP7-R221Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENAM-G389Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENAM-I648Thet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENAM-R763Qhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANXA3-S19Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANXA3-P251Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ANKRD56-H581Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5ANKRD56-D152Ghet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC158-E482Khet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5SH3RF1-G348Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5DNAH5-P4488Thet unknown0.032Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5SRFBP1-F253Lhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRFBP1-V419Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5APC-V1822Dhomozygous0.887Unknown
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
0.5SPINK5-G40Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S887Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6A-K827Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6A-V391Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDE6A-A145Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP10B-R821Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5ATP10B-C217Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TIGD6-E345Shifthomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5TIGD6-R67Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.787 (possibly damaging)
0.5TIGD6-E60*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-S300Lhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.111 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERINC5-C100Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-W191Rhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-M11Vhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5IL7R-T125Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5SPEF2-N71Hhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPEF2-R794Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SPEF2-K1482Nhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5NNT-T802Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BDP1-D38Ehet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-R757Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V778Mhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5BDP1-G1180Shet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-F1244Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K1469Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5BDP1-Q1676Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BDP1-I2013Lhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OCLN-K504Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ERBB2IP-I88Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5ERBB2IP-M609Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-S602Ihomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-H305Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.318 (possibly damaging)
0.5TLR1-N248Shomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5THOC7-R113*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DLEC1-L79Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.094 (benign)
0.5DLEC1-R404Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5STX19-A38Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5OR5H14-T10Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5OR5H14-L101Fhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR5H14-S107Ghet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR5H14-N294Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PHLDB2-F786Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5ABI3BP-E314Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5CPOX-R352Chet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5ZNF385D-P25Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5TMEM43-K168Nhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNT10A-G165Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging), Testable gene in GeneTests
0.5STK36-K295Rhomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5SLC11A1-R108Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ECEL1-R333*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ECEL1-H328Yhet unknown0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CAPN10-L474Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.858 (probably damaging)
0.5CAPN10-I666Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.047Unknown
benign
Low clinical importance,
likely
Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.
0.5COL6A3-V1364Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT1A1-G8Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5UGT1A1-R9Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5POPDC2-W214*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DOK7-P214Lhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause congenital myasthenic syndromes, but these are usually more severe (frameshift or nonsense mutatinos) and there are many other genomes with rare missense polymorphisms.
0.5DOK7-P415Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HTT-N1385Hhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-T1720Nhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK057553-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
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-R443Qhet unknown0.078Complex/Other
benign
Low clinical importance,
likely
Probably benign. Implicated in causing Ellis-van Creveld Syndrome in a dominant manner (despite the disease typically being recessive), but the high allele frequency of this variant (7.8% in GET-Evidence data) strongly contradicts any severe pathogenic effect.
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR10-Q370*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TLR10-I369Lhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR10-N241Hhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5GPR125-V1043Mhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR125-K852Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5SLC2A9-V295Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.536 (possibly damaging), Testable gene in GeneTests
0.5SLC2A9-V282Ihet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.5SLC2A9-G25Rhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LEPREL1-R127Chet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5BCHE-A567Thet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCHE-E283Dhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GTF2E1-R432Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB5-R751Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5AY358102-E79Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AY358102-M1Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MED12L-R1920Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5MRPS22-I95Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPRA1-F265Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5TRPM1-T1314Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhet unknown0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UNC45B-R367Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5UTP6-K197Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5CRYBA1-N120Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5GPR179-Q1869Ehet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-K1150Ehet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R493Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5GPR179-D218Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5GPR179-G170Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5GPR179-A25Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5PIP4K2B-G185Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HSPB9-F8Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5KRT40-S406Lhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.023 (benign)
0.5KRT40-M303Thomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-E286Dhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.971 (probably damaging)
0.5KRT40-C265Yhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-R262Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT40-R235Hhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5KRT40-T153Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.872 (probably damaging)
0.5KRT40-S102Nhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT40-T37Ahomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5KRT24-K429Ehomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT24-M267Ihomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.637 (possibly damaging)
0.5KRT24-G250Dhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KIAA0100-H1266Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5MYO15A-C1977Rhomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-G2018Rhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-R2262Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYBBP1A-K1299Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5MYBBP1A-V1069Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5MYBBP1A-D916Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MYBBP1A-Q8Ehet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCARF1-G667Shomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCARF1-R662Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SCARF1-E639Dhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCARF1-R618Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.818 (possibly damaging)
0.5SCARF1-A425Vhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FANCA-V1287Ihet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.349 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PITPNM3-Y554Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PITPNM3-A80Thet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALOX12-Q261Rhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALOX12-N322Shet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALOX12-P337Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.925 (probably damaging)
0.5TNFRSF13B-K188Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH9-Q445Rhet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-R842Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.985 (probably damaging)
0.5DNAH9-R990Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH9-Q2438Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH9-L2823Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5MYH4-S1603Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYH4-P735Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ACADVL-P65Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACADVL-E114Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5AOC2-P141Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CDC27-N642Khet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-Y641Chet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-R631*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CDC27-L619Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-F617Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-H615Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-TL611SAhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-Q301Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA8-C1244Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TSEN54-V190Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC13D-I283Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.307 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5QRICH2-P1077Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5QRICH2-H974Rhet unknown0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5QRICH2-H906Yhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5QRICH2-H603RGLVRPGMDQShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5QRICH2-L202Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDK3-I124Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5MRPL38-D371Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MRPL38-R99Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ARSG-A11Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ARSG-I493Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5APOH-W335Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-R154Hhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXB9-R183Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RNF43-R529Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RNF43-L418Mhomozygous0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5RNF43-I47Vhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AXIN2-P525Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests
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
0.5FTSJ3-E628Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5FTSJ3-Y456Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5FTSJ3-S424Chet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5FTSJ3-Q91Ehomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACE-R442Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACE-T1187Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5ACE-R1290Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.058 (benign), Testable gene in GeneTests
0.5DPEP1-V104Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.925 (probably damaging)
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC24A1-V311Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC24A1-L313Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC24A1-S332Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYP19A1-R264Chet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.5CSK-T44Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RLBP1-E3Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1199-W1303Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SCAMP2-P74Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GATM-Q110Hhomozygous0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-R1213Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-E1017Ghet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhomozygous0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-L72Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZFYVE19-S376Ahet unknown0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AVEN-Q213Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RYR3-I432Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5RYR3-R1641Chomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RYR3-V2986Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.875 (probably damaging)
0.5CAPN3-T184Mhet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Probably benign -- this was implicated in Limb-girdle muscular dystrophy when homozygous (in a recessive manner), but the reports lacked statistical significance and a relatively high allele frequency (>1%) contradicts the hypothesis.
0.5CAPN3-A236Thomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CDAN1-Q596Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIM69-T161Mhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM69-I399Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5SPG11-K1273Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP1A-D1461Nhomozygous0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5MAP1A-R2480Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TTBK2-L8Phomozygous0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-P1890Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (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
0.5BBS2-A504Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS2-I123Vhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5NOD2-R708Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.517 (possibly damaging), Testable gene in GeneTests
0.5SLC7A6OS-Y220Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-K4087Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-V3898Mhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-D2157Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.044 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-R451Phet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Y289Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-D269Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA0182-A49Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIAA0182-E978Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5LRRC50-Q260Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-Q307Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly 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
0.5WWOX-D183Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5HEATR3-I205Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5HEATR3-R302Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5ABCC11-H1344Rhomozygous0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC11-R995Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABCC11-I748Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ABCC11-A317Ehet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC11-R19Hhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-I75Vhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IL4R-E400Ahet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.578 (possibly damaging)
0.5IL4R-Q576Rhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IL4R-S752Ahomozygous0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.328 (possibly damaging)
0.5COG7-T605Mhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCC6-L1097Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5ABCC6-I742Vhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN3-H404Rhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC12-E1191Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5ABCC12-I1187Thet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC12-S1162Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC12-Y1013Hhomozygous0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC12-T989Shomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC12-N587Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ABCC12-A102Ehet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC12-D26Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5TRIM72-R192Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ZNF629-H827Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP36-S992Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP36-N148Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.905 (probably damaging)
0.5AK057217-R590*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC2A10-A385Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZSWIM1-R110Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GTSF1L-F22Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5CYP24A1-M374Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CASS4-S411Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5KRTAP26-1-C3Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL9A3-P94Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A3-A435Ehomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5FAM83C-R621Qhomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM83C-Y600Hhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5FAM83C-D334Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM83C-E134Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5VSX1-D105Ehet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
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
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KLK4-H197Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLK4-G159Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VN1R2-G118Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZNF813-A62Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ZNF813-S146Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.07 (benign)
0.5ZNF813-Y383Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5JAG1-V272Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.69 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5RASSF2-R78*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZSCAN22-E15Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZSCAN22-E257Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5ZSCAN22-E381Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5ZNF587-E189Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5PIGP-Y118Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PIGP-A9Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIGP-P3Shet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC19A1-H27Rhomozygous0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL4A5-I444Shomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM109B-R97Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5PPIL2-P335Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-A472Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A1-R850Hhomozygous0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF280B-E256Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF280B-V229Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO18B-G44Ehet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-W547Chomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-W661Rhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-H1119Qhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYO18B-Q2347Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO18B-R2532Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5GCAT-N260Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5GCAT-R286Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NOL12-Y98Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5SLC5A1-N51Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.043 (benign), Testable gene in GeneTests
0.5SLC5A1-A411Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC5A1-H615Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5FUT2-P271Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CABP5-V128Ahet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CABP5-R111Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5CABP5-R44Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SERPINB2-N120Dhet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINB2-G374Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5SERPINB2-N404Khet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAX-D44Ehomozygous0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH19-C19Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5POLRMT-V713Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5POLRMT-C591Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5POLRMT-E555Ahet unknown0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRG1-E197Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5LRG1-P133Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.278 (possibly damaging)
0.5LRG1-G64Shet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRG1-R8Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5PLIN4-A1124Thomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.28 (possibly damaging)
0.5PLIN4-A883Thet unknown0.398Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLIN4-A844Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLIN4-QNI841KTVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLIN4-K838Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLIN4-GL836SVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLIN4-A832Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLIN4-M802Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLIN4-S659Ghomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLIN4-N431Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5PLIN4-T421Ahet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.5PLIN4-V124Ahomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5ZFR2-I718Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5ZFR2-A577Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SKA1-H86Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SKA1-V91Ihomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GNTL1-R152Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CANT1-R19Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LPIN2-P623Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2132Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB7C-P250Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SLC39A6-S420Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5SLC39A6-E119Dhet unknown0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DSG2-I962Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSC2-I776Vhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR22-P182Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHG2-I622Vhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHG2-R992Khet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5PLEKHG2-R1293Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PLEKHG2-P1329Ahet unknown0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5BCKDHA-Q42Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF45-I380Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF45-H270Phet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EHD2-P48Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SYMPK-P995Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCAM-R282Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5NPHS1-N1077Shomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5NPHS1-L392Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.698 (possibly damaging), Testable gene in GeneTests
0.5UPK1A-S33Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5UPK1A-S33Ahet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5UPK1A-I128Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5UPK1A-M257Thomozygous0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF442-K51Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5TYK2-A928Vhet unknown0.008Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5TYK2-G363Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-Q582Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhomozygous0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL27RA-V326Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF599-T349Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ZNF737-R492Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5NCAN-S838Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.867 (probably damaging)
0.5PDE4C-R344Qhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.428 (possibly damaging)
0.5PDE4C-Y128Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5TPSG1-T239Ihet unknown0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TPSG1-S202Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.858 (probably damaging)
0.5TPSG1-T75Khet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TPSG1-R28Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.141 (benign)
0.5TBC1D4-V1275Ahet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D4-V1119Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5VEGFB-R148Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MAP4K2-R677Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LGALS12-V252Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5CEP290-R1237Hhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.073 (benign), Testable gene in GeneTests with associated GeneReview
0.5AHNAK-G5282Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5AHNAK-L3907Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-T1986Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BSCL2-D20Ehet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OSBPL8-T116Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ZFC3H1-R937Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EHBP1L1-V78Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5EHBP1L1-V133Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EHBP1L1-P396Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5EHBP1L1-D569Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT71-I355Fhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5KRT71-E122Khet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5KRT71-V107Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DDIT3-R147Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF5A-E492Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5GPR44-H72Nhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5MS4A14-M405Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5OR5M1-V124Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5XPO4-A881Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-I3412Vhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPSTI1-N399Khet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPSTI1-E395Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ULK1-P577Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ULK1-P714Lhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ULK1-T816Ahomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-V380Dhet unknown0.061Unknown
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
0.5HNF1A-G606Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5TMX2-G56Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FAM111B-G684Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5FGD6-R560Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5P2RX3-C3Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLBD2-Q54Phomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLBD2-R354Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PLBD2-R524Chet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.746 (possibly damaging)
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CCDC63-D373Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.5GNPTAB-G871Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYT12-R420Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5TCIRG1-P572Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5ALG9-P506Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FXYD2-G10Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GUCY2C-V964Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5GUCY2C-F281Lhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC89-E134Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PLEKHA5-G923Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5A2ML1-D850Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-V1091Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5A2ML1-M1257Vhet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX5-L88Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX5-M272Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-S252Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5SNX19-S26Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.45 (possibly damaging)
0.5CDON-I1221Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDON-R437Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5CDON-P351Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDON-V75Ihet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC77-M335Thet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC77-F388Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AKAP3-E525Khomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP3-T464Shomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP3-G118Ehet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AKAP3-N87Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OR10S1-V309Ahet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.924 (probably damaging)
0.5OR10S1-Y190Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR10S1-A112Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR10S1-K93Rhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5OR10S1-G63Shet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5VWF-T2666Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-P1725Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.082 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-N1435Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.118 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-A837Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B1-N130Dhomozygous0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NARS2-N87Thet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NARS2-R9Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5ANKRD33-R75Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.919 (probably damaging)
0.5PHOX2A-R88Ghet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT86-E294Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-G362Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NUMA1-S1637Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NUMA1-R1636Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUMA1-Q1634Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRT75-S485Rhet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT75-I367Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5KRT75-R91Ghet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARAP1-R358Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5C2CD3-R1832Ghet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5C2CD3-G1831Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5C2CD3-Y1297Chet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5C2CD3-R1219Qhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C2CD3-R997Qhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGD4-D145Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GYS2-A193Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-T1410Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5VDR-R358Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5DNAJC22-G186Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OR10AD1-Y279Hhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OR10AD1-R123Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYO7A-L16Shomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-V679Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.035 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1530Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYLTL1B-R560Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-A1122Vhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-P1103Lhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests
0.5RNASE9-S204Phet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNASE9-C123Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RNASE9-R97Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RNASE9-K50Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RNASE9-L23Phet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RPGRIP1-L1256Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MICAL2-P1110Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5TEP1-I2486Mhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihomozygous0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1447Thet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL4A2-R517Khomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A2-P718Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5COL4A2-P1307Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TTC8-D65Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPATA7-R534Qhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBM23-M334Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ADM-S50Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5DMBT1-P42Thet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-R1860Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPS8L2-R20Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5PLEK2-D216Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5PLEK2-R205Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5OR52K2-R124Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OR52K2-R236Hhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OR52K2-R265Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5OLFML1-R193Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.964 (probably damaging)
0.5REC8-E229EEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5REC8-R300Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SLC25A21-W299Chet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR10A5-T241Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATXN3-V212Mhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XRCC3-T241Mhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.5MRGPRX2-F78Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5MRGPRX2-N62Shet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5SEC31B-A1169Shet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC31B-L97Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5GPC5-Q467Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC6A5-G102Shomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACCSL-M1Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5ACCSL-C529Rhomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2C9-H251Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.947 (probably damaging)
0.5AHNAK2-P5397Ahet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.149 (benign)
0.5AHNAK2-Y5184Dhet unknown0.626Unknown
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-H4845Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5AHNAK2-T4664Ahet unknown0.558Unknown
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-L4326Phet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-L4321Vhet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5AHNAK2-V4278Ahet unknown0.466Unknown
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-M3869Vhet unknown0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-D3793Nhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-S3687Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.741 (possibly damaging)
0.5AHNAK2-G3654Ehet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.204 (possibly damaging)
0.5AHNAK2-V3363Ahet unknown0.542Unknown
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-M3260Thet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-V3083Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.445 (possibly damaging)
0.5AHNAK2-R3076Hhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.233 (possibly damaging)
0.5AHNAK2-R2862Shet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5AHNAK2-G2517Vhet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5AHNAK2-E2503Ahomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-L2416Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.754 (possibly damaging)
0.5AHNAK2-P2387Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5AHNAK2-L2333Phet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AHNAK2-T2049Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5AHNAK2-L2045Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5AHNAK2-P2041Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5AHNAK2-T1926Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-AV1650DMhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-P1562Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5AHNAK2-M1298Ihomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5AHNAK2-A1175Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-E1148Dhet unknown0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AHNAK2-V1133Ihet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5NELL1-R82Qhet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NELL1-F211Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NELL1-V287Ihet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5FAM178A-K145Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5IGSF22-I1131Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IGSF22-R672Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IGSF22-R653Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IGSF22-M559Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IGSF22-R472Qhomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5IGSF22-V414Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOAP1-Q292Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINA12-I394Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CLMN-P963Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5CALHM1-G330Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CALHM1-A153Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CALHM1-L86Phomozygous1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USH1C-R620Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FARP1-R902Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TMTC4-L673Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375SLX4-R1761Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SLX4-P1122Lhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DCAF15-V338Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DCAF15-C482Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NRAP-R1566Chomozygous0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25NRAP-A674Vhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-N519Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.25NRAP-D484Nhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.25NRAP-Q360Rhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A344Thet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-A282Thet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-V208Ahomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NRAP-Y161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NRAP-E159Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF844-K226Ehet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF844-T276Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF844-A308Phet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF844-P406Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF844-T462Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF844-I642Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF844-V658Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SDR16C6-G277Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SDR16C6-F243Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SDR16C6-T148Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SDR16C6-T76Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC35C1-I227Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25C9orf102-M521Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C9orf102-V592Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HPS5-L417Mhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MCEE-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
0.25PTCH1-T1195Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.25FGFR2-M186Thet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25CPXM2-Q750Rhomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPXM2-R415Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPXM2-T414Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCN2-R215Whet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests
0.25TCN2-R259Phomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25CHAT-V461Mhet unknown0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-C4Yhet unknown0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25ARSA-R496Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-N350Shet unknown0.241Unknown
benign
Low clinical importance,
well-established
This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
0.25RIBC2-F262Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RIBC2-R329Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RIBC2-R376*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK094914-T33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL18A1-A288Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.25COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AHR-R554Khet unknown0.315Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MFSD8-A423Vhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ENPP1-A124Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25ENPP1-K173Qhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.15 (benign), Testable gene in GeneTests
0.25REV3L-P1791Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25REV3L-K1399Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25REV3L-T1224Ihet unknown0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCM-S175Fhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HADH-L86Phet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign)
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-V73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PMS2-K541Ehet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HS6ST3-C177*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25HS6ST3-K451Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.36 (possibly damaging)
0.25CHST4-Y27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CHST4-S28Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-K6544Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R6075Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L6011PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-F5916LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5838Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-N5750ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5644ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-S4943PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-V3805IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T3015IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T2812PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G2410RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-E2111QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A1822PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C1275*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C13orf40-P773LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-I96Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C82Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP2C2-M165Lhomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP2C2-M466Lhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP2C2-L604Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP2C2-*947*WKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC22A2-I552Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SLC22A2-S270Ahet unknown0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DPB1-LF37VYhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-G40Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-F64Yhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HLA-DPB1-M105Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.055 (benign)
0.25HLA-DPB1-GP114EAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-M116Vhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-R125Khomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-I244Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.374 (possibly damaging)
0.25HLA-DPB1-*259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MSX2-M129Thet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RNF39-A304Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.223Unknown
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
0.25MICA-W37Ghet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25MICA-C329Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TNIP1-Q453Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TNIP1-P151Ahet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
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
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH9-V261Ihet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-S2580Lhet unknown0.091Dominant
benign
Low clinical importance,
uncertain
Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.
0.25FBN2-M2311Vhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-V887Ahet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HEXA-I436Vhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP1A1-I462Vhet unknown0.128Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.25KIF6-M522Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CTNS-T260Ihet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25HLA-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
0.25C7orf29-Q29*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C7orf29-P93Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-I6Thet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-N227Shet unknown0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25SLCO1B3-V560Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.25CTSB-L26Vhet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTSB-A6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLI2-A1156Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EPHX2-R103Chet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.25EPHX2-R287Qhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.25DNAH6-V141Mhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH6-S1633Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO7B-G21Shet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO7B-V1348Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25MYO7B-E1350Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7B-L1351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO7B-E1647Dhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.25MYO7B-Q2105Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLXND1-S1542Nhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-G901Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLXND1-H894Rhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-M870Vhet unknown0.537Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-G531Shet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A6-E461Ahet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.25COL6A6-H1078Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL6A6-H1799Rhet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNJ12-S15Lhet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.25KCNJ12-R39Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.25KCNJ12-R40Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.25KCNJ12-Q192Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KCNJ12-I249Vhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNJ12-E289Qhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KCNJ12-T290Mhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25KCNJ12-V297Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.427 (possibly damaging)
0.25KCNJ12-M302Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.25KCNJ12-R399*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KCNJ12-S405Ihet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.25KCNJ12-E430Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IDUA-R105Qhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.25IDUA-A361Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUMF2-D70Ehomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SUMF2-F118Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6A-T552Shet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0FAM126A-Q154Rhet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
Unreported, rare and predicted to be damaging by Polyphen 2. Other recessive variants in this gene, including one missense mutation, have been reported to cause hypomyelinating leukodystrophy and congenital cataracts.
0SPG7-G199Shifthet unknown0.008Recessive
pathogenic
High clinical importance,
uncertain
This variant is predicted to cause hereditary spastic paraplegia (paraplegin type) in a recessive manner. Other downstream frameshift mutations in this gene have been implicated in causing the disease. Age of onset is usually in adulthood (~25 years of age), and is characterized by progressive bilateral lower limb weakness and spasticity.
0SLC26A4-I300Lhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
If homozygous, this disruptive variant may be a recessive cause of Pendred Syndrome (congenital deafness).
0ITPA-P32Thet unknown0.084Recessive
pharmacogenetic
Low clinical importance,
well-established
This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,722,204,493 bases (95.2% of callable positions, 88.4% of total positions)

Coding region coverage: 32,010,044 bases (96.2% of all genes, 97.1% of genes with clinical testing available)

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

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"GENE" or "GENE A123C":

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