huF7E042 - GET-Evidence variant report

Variant report for huF7E042

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Heterozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).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
3COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
4FANCG-R513QLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00715746Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.1
5BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
6TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
7RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
8TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
9KDR-C482RLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0209147Hypothesized to cause a higher risk of benign neonatal hemangiomas (which are seen in 10% of children). However, observations lacked statistical significance.1
10POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
12HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
13SP110-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
14H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
15TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
16ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
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
19CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
20KCNJ11-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
21HTRA2-A141SLowLikelyLikely benign

Unknown, Heterozygous
0.016814Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease.1
22NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
23SLC45A2-E272KLowLikelyLikely benign

Unknown, Heterozygous
0.0290946Pigmentation allele for black hair in Caucasian population.1
24BRCA1-Q356RLowUncertainUncertain benign

Unknown, Heterozygous
0.0462911One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.1
25TYR-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
26SLC45A2-L374FLowUncertainUncertain benign

Unknown, Heterozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
27APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
29PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
30RP1-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
31CASP8-M1TLowUncertainUncertain benign

Unknown, Heterozygous
0.0310451Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.1
32TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31577138 / 33282720 = 94.88%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.5024437927663730546138955553-955753, 957581-957614, 957624, 957627, 957633-957645, 957669-957744, 957774, 957795-957841, 970657-970704, 976045-976054, 976066, 976069-976091, 976107-976130, 976162-976165, 976169-976173, 976189-976260, 976553-976600, 976611-976672, 976681-976739, 976762, 976769-976777, 976859-976869, 976873-976878, 976892-976925, 976958, 976961-976966, 976969-976970, 976983, 977058-977061, 977409-977433, 977443, 977454, 977477-977499, 977502-977504, 978619-978626, 978676-978680, 978685-978749, 978768-978820, 978923-978955, 979027, 979030-979039, 979047-979095, 979203, 979208-979211, 979226, 979248, 979253, 979282-979303, 979357-979401, 979489-979506, 979806-979807, 980541-980580, 980590-980629, 980779-980824, 980853-980859, 980881-980903, 981174, 981194, 981242-981252, 981352-981354, 981580, 981619-981645, 981777-981816, 981836-981844, 981861, 981875-981881, 981888-981954, 981974-981976, 981979-981998, 982021-982052, 982061-982089, 982200-982230, 982254-982263, 982308-982324, 982716-982759, 982820, 982833-982834, 982958-982968, 983003-983040, 983050-983051, 983177, 983180-983219, 983237-983253, 983272-983275, 983398-983448, 983458-983519, 983552-983745, 984247-984335, 984341-984402, 984421-984439, 984616-984733, 984754-984771, 984777-984780, 984795-984799, 984806, 984810, 984826-984831, 984946-984966, 985060, 985092-985115, 985119-985121, 985162-985175, 985283-985285, 985317, 985332-985338, 985342-985354, 985356, 985360-985398, 985417, 985617-985626, 985629-985630, 985633, 985640, 985643, 985661-985687, 985807-985808, 985838-985881, 985913-985914, 986106-986107, 986111-986113, 986138-986145, 986153-986175, 986187-986217, 986633-986650, 986666-986699, 986707-986739, 986833-986860, 986873, 986883-986907, 986941-986970, 986987-987023, 987108-987109, 987112-987115, 987145, 987155, 987178-987180, 989133-989135, 989163, 989185, 989214-989221, 989300, 989307, 989314, 989320, 989328-989330, 989835, 989890-989922, 990204-990215, 990244-990296
2GABRD10.3097866077998593813591950863-1950930, 1956381-1956396, 1956414-1956428, 1956459-1956493, 1956773-1956784, 1956791-1956840, 1956957-1957028, 1957037, 1957049, 1957052-1957125, 1957147-1957169, 1959016-1959061, 1959070-1959097, 1959594-1959637, 1959655-1959666, 1959699-1959713, 1960550-1960639, 1960656-1960705, 1960990-1961030, 1961039-1961056, 1961077-1961105, 1961128-1961143, 1961167-1961201, 1961422-1961435, 1961453-1961459, 1961466, 1961474-1961475, 1961486-1961487, 1961531-1961536, 1961551, 1961578-1961630, 1961641-1961684, 1961705-1961721
3PEX1010.755351681957192409812337225-2337239, 2337923-2337961, 2337982, 2337996-2338001, 2338034, 2338058, 2338164, 2338200-2338235, 2340001-2340022, 2340026-2340041, 2340149, 2340200-2340202, 2340269, 2340274, 2341881-2341890, 2343830-2343913, 2343940-2343941
4NPHP410.957252978276118342815924574, 6029156-6029160, 6038330-6038473, 6046257-6046264, 6046267-6046268, 6046322-6046344
5ESPN10.6830409356725181325656485016-6485165, 6485204-6485309, 6488300-6488346, 6488377-6488392, 6488426-6488433, 6488463-6488479, 6500376-6500411, 6500417-6500428, 6500449-6500488, 6500686-6500716, 6500722-6500728, 6500735-6500802, 6500836-6500840, 6500850-6500851, 6500863-6500868, 6501097-6501103, 6505726-6505753, 6505851-6505854, 6505931-6505937, 6508702, 6508712, 6508730-6508731, 6508763, 6508828-6508875, 6508881-6508888, 6508922-6508928, 6508976-6508988, 6509054-6509086, 6509100-6509106, 6509139-6509151, 6511703-6511709, 6511907-6511933, 6512106-6512133, 6517244-6517263
6PLEKHG510.935716525556620531896527968-6527969, 6528050-6528065, 6528093-6528099, 6528270-6528271, 6528282-6528288, 6529225-6529227, 6529488-6529495, 6529678-6529686, 6529701, 6530342-6530358, 6530839, 6530845-6530851, 6531099, 6531621-6531627, 6532639, 6533413-6533419, 6534106-6534138, 6534523-6534545, 6534618, 6534622-6534647, 6535172-6535178, 6535183-6535193, 6535548, 6556582-6556584, 6557380-6557383
7PEX1410.9770723104056426113410684437-10684444, 10684447, 10690018, 10690021-10690036
8TARDBP10.90200803212851122124511082258-11082305, 11082356-11082362, 11082530, 11082582-11082610, 11082630-11082666
9MASP210.83745754488113335206111097751-11097778, 11102956-11102980, 11102985, 11103033-11103058, 11103065, 11103076, 11103406-11103442, 11103456, 11103508, 11103531-11103573, 11103583-11103592, 11105465-11105468, 11105496-11105510, 11105517-11105522, 11105536, 11105576, 11106638, 11106645-11106666, 11106676-11106692, 11106755-11106790, 11106955-11106963, 11107111-11107142, 11107160-11107176
10MTHFR10.997970573313044197111854097-11854100
11PLOD110.9876373626373627218412023674-12023681, 12024839, 12024842, 12025591-12025592, 12026312-12026326
12MFN210.999560246262091227412067111
13CLCNKA10.93846899224806127206416353237-16353243, 16355623-16355627, 16355738-16355741, 16356959-16356962, 16357004-16357063, 16357102-16357107, 16357117-16357122, 16358293-16358304, 16358700-16358714, 16358938, 16360141-16360147
14CLCNKB10.9786821705426444206416375063-16375064, 16378284-16378285, 16378706-16378714, 16378774-16378804
15ATP13A210.9819362122495164354317312741-17312743, 17313103, 17313300-17313301, 17313421, 17313599-17313625, 17313654, 17314942, 17320268-17320274, 17322482, 17322487-17322493, 17322505, 17323552-17323555, 17323562, 17323647, 17326554-17326559
16ALDH4A110.9923167848699813169219201891, 19202916-19202922, 19203967, 19203972-19203975
17PINK110.99713631156935174620960089-20960093
18HSPG210.938752276867038071317622149809-22149858, 22149872, 22149881, 22149884, 22149891, 22149926-22149937, 22149946, 22150110-22150140, 22150151-22150153, 22150156-22150176, 22150202-22150203, 22150210, 22150614-22150640, 22150697, 22150830-22150852, 22150859, 22151030-22151052, 22151055, 22151094-22151108, 22151197, 22151214-22151228, 22151267, 22151270-22151272, 22154384-22154394, 22154540, 22154572-22154597, 22154622-22154645, 22154767-22154772, 22155384-22155394, 22155441-22155451, 22155502-22155510, 22155554-22155556, 22155906-22155907, 22155918-22155922, 22155926, 22155967-22155971, 22156018, 22156052-22156062, 22156096-22156097, 22156486-22156502, 22156540-22156541, 22156584, 22157539, 22159086, 22163426-22163429, 22165415-22165421, 22165441, 22165446, 22165905-22165908, 22165942-22165944, 22167598-22167600, 22167653-22167659, 22168121-22168157, 22168584, 22169407, 22169915-22169931, 22172634-22172637, 22172715-22172724, 22172732, 22174292-22174302, 22174524-22174545, 22174560-22174570, 22175520, 22176665-22176685, 22176862-22176873, 22176910, 22176934-22176966, 22178336, 22178364, 22180781-22180798, 22181203, 22181411-22181427, 22181846-22181849, 22181859, 22182058, 22183865, 22186097-22186106, 22186148-22186162, 22186336-22186360, 22186392-22186393, 22186396-22186398, 22191454, 22191503-22191516, 22198708-22198713, 22199245, 22199522-22199538, 22207987-22207991, 22263648-22263710
19WNT410.9100378787878895105622456118-22456127, 22456179-22456186, 22469339-22469415
20HMGCL10.99897750511247197824134721
21FUCA110.956459671663161140124194388, 24194393-24194395, 24194464, 24194509, 24194512, 24194616-24194660, 24194673-24194675, 24194701-24194702, 24194718-24194720, 24194736
22LDLRAP110.97303128371092592725870203-25870205, 25870210, 25870229, 25870236-25870238, 25870250-25870264, 25893445-25893446
23SEPN110.88968824940048184166826126722-26126904, 26135268
24ZMPSTE2410.997899159663873142840737651-40737653
25KCNQ410.9257662835249155208841249766-41249827, 41249866-41249874, 41249877-41249888, 41249920-41249930, 41249935, 41249957-41249990, 41250016, 41250024-41250027, 41250033, 41250036-41250040, 41250044, 41250077-41250079, 41284293-41284303
26CLDN1910.99111111111111667543201581-43201586
27LEPRE110.9950248756218911221143232613-43232623
28SLC2A110.9878296146044618147943424305-43424322
29POMGNT110.998991427130612198346661554, 46661557
30DHCR2410.9716312056737644155155352580-55352612, 55352710, 55352713, 55352784-55352792
31PCSK910.9995189995191207955524279
32ALG610.995424836601317153063862245, 63862248-63862253
33COL11A110.99468572475719295457103364258-103364286
34GSTM110.82648401826484114657110230496-110230524, 110230810-110230811, 110230820, 110230830-110230863, 110231295-110231333, 110231919, 110233079, 110235885-110235891
35VANGL110.9955555555555671575116226649-116226655
36NOTCH210.977750809061491657416120539665-120539714, 120539739-120539784, 120539916, 120539936, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611964, 120611990-120612011
37HFE210.999219359875111281145415763
38FLG10.9469062859018564712186152276577-152276586, 152276812-152276816, 152276822-152276835, 152276870-152276871, 152277379-152277385, 152278431-152278437, 152279403-152279409, 152279743, 152279890, 152280071, 152280075-152280077, 152280080, 152280173-152280177, 152280183-152280184, 152280187, 152280271-152280297, 152280614, 152280932, 152281144-152281145, 152281148, 152281270, 152281284, 152281307-152281356, 152281579, 152281755, 152281904, 152281944, 152282128-152282139, 152282233-152282252, 152282281-152282297, 152282511-152282549, 152283222, 152283230, 152283236, 152283390, 152283410, 152283627-152283633, 152283657, 152283722-152283770, 152283800-152283801, 152283804, 152283818, 152283877-152283911, 152283975, 152283983, 152284007-152284049, 152284069-152284071, 152284076-152284078, 152284087, 152284314-152284328, 152284406-152284453, 152284524, 152284578-152284579, 152284708-152284714, 152284815-152284823, 152285017, 152285020, 152285038, 152285050-152285088, 152285119, 152285210-152285247, 152285410-152285428, 152285656-152285693, 152285733, 152285753, 152285775, 152285959, 152285973, 152286019-152286040, 152286055, 152286182, 152286441, 152286915
39PKLR10.9976811594202941725155269983-155269986
40SEMA4A10.9995625546806612286156131158
41NTRK110.9987452948557132391156830732-156830734
42F510.98666666666667896675169510233, 169510377-169510434, 169510499-169510528
43LHX410.9965899403239641173180217572-180217575
44CFH10.9883658008658433696196716353-196716395
45CFHR110.997985901309162993196801042, 196801078
46ASPM10.99990415947863110434197115487
47PSEN210.97772828507795301347227071416, 227071477-227071487, 227071592-227071609
48ADCK310.99434156378601111944227152910, 227152913-227152920, 227153425, 227171803
49GJC210.256818181818189811320228345460-228345484, 228345495-228345518, 228345536-228345577, 228345605-228345637, 228345643-228345661, 228345664, 228345676, 228345679-228345680, 228345684-228345686, 228345701, 228345706, 228345712-228345721, 228345748-228345778, 228345785-228345819, 228345825-228345829, 228345846-228345852, 228345862, 228345874-228346166, 228346186-228346213, 228346227, 228346231-228346239, 228346263, 228346265-228346269, 228346283-228346290, 228346293-228346305, 228346317-228346404, 228346414-228346450, 228346454, 228346469-228346507, 228346514-228346620, 228346643-228346697, 228346704-228346748, 228346754, 228346771-228346779
50ACTA110.97266313932981311134229567914-229567932, 229568154-229568165
51ACTN210.9996275605214212685236908000
52RYR210.99818840579712714904237821263-237821289
53NET1100.981574539363483317915454700-5454727, 5454752, 5454755-5454758
54OPTN100.987889273356421173413151245-13151265
55PTF1A100.8085106382978718998723481506-23481536, 23481542-23481561, 23481579-23481588, 23481644-23481651, 23481690-23481701, 23481708-23481715, 23481764-23481804, 23481835-23481836, 23481894-23481916, 23481938-23481970, 23481983
56PDSS1100.994391025641037124826986659-26986665
57RET100.96741405082212109334543572707-43572779, 43596082-43596083, 43600420-43600426, 43600513-43600529, 43600603-43600608, 43609941, 43610003-43610004, 43610148
58ERCC6100.998661311914326448250740810, 50740819, 50740825, 50740830-50740832
59PCDH15100.999490575649523588955587178-55587180
60NODAL100.9760536398467425104472195575, 72201330-72201341, 72201378, 72201395-72201405
61CDH23100.9906523468576941005673442283-73442316, 73453975-73453992, 73461933-73461934, 73461945-73461946, 73461950-73461953, 73462335-73462336, 73464825-73464840, 73464873-73464877, 73490285-73490293, 73490298, 73571167
62VCL100.997944199706317340575873959-75873965
63LDB3100.9624542124542182218488441341, 88466316, 88466390, 88469749-88469755, 88469787, 88476161-88476168, 88476177-88476178, 88476189, 88476199-88476200, 88476211-88476241, 88476346-88476351, 88476461-88476481
64BMPR1A100.9881175734834319159988679151, 88679168, 88683133-88683149
65GLUD1100.9677996422182554167788854357-88854358, 88854395-88854396, 88854420-88854422, 88854456-88854495, 88854506-88854512
66HPS1100.99240265906933162106100177367-100177379, 100177391, 100177955, 100177980
67HPS6100.97594501718213562328103825232-103825234, 103825439-103825468, 103825726-103825737, 103825783-103825792, 103826586
68SUFU100.9993127147766311455104263983
69BAG3100.99247685185185131728121411327-121411331, 121411360-121411367
70FGFR2100.999593991067812463123325002
71HTRA1100.767844767844773351443124221169-124221279, 124221289-124221295, 124221310-124221412, 124221432-124221451, 124221460, 124221471-124221516, 124221530-124221535, 124221559-124221599
72UROS100.997493734335842798127477437-127477438
73HRAS110.928070175438641570532697-532701, 532704, 532712, 532716-532719, 532738, 532751, 533898-533925
74TALDO1110.873767258382641281014747482-747560, 747575-747578, 755930-755932, 755965-755980, 763344-763355, 763403, 763409-763420, 763452
75SLC25A22110.47942386831276506972791915-791918, 791934-791966, 792005, 792013, 792039-792068, 792142-792147, 792173-792174, 792177-792185, 792197, 792203-792206, 792214, 792324-792375, 792384-792425, 792449-792458, 792553-792727, 792884, 792890-792895, 792925-792960, 793553-793561, 793567-793570, 793581, 794476-794513, 794776-794779, 794786, 794856-794862, 794877-794901, 794990-794991, 794998
76PNPLA2110.675247524752484921515819719-819747, 819755-819905, 821755-821756, 823527-823539, 823579-823587, 823753-823773, 823849-823855, 824001, 824060, 824065-824070, 824082, 824085, 824096-824116, 824120-824127, 824316-824381, 824413-824428, 824432, 824523-824562, 824575-824596, 824642-824687, 824717-824719, 824722-824726, 824729, 824736-824739, 824789, 824797, 824839-824853
77CTSD110.6424535916061344312391774755-1774761, 1774775-1774803, 1774807, 1774831, 1774857-1774900, 1775033-1775052, 1775116-1775130, 1775224-1775272, 1775296, 1775334, 1775352-1775368, 1778580-1778608, 1778648-1778684, 1780231-1780232, 1780275-1780298, 1780746-1780765, 1780776-1780795, 1780806-1780807, 1780813-1780824, 1780860, 1782555, 1782611, 1782618-1782623, 1782638-1782672, 1785022-1785089
78TNNI2110.92349726775956425491861454-1861468, 1862049-1862054, 1862078, 1862083-1862094, 1862381-1862388
79TNNT3110.625482625482632917771944785-1944789, 1946329, 1946345, 1947925, 1947933-1947939, 1950369-1950373, 1951040-1951044, 1953702, 1954951-1954967, 1955026-1955056, 1955067, 1955174-1955177, 1955198, 1955203-1955215, 1955229-1955238, 1955609-1955645, 1955655-1955675, 1955801-1955841, 1955878-1955885, 1956105, 1956108, 1958193-1958203, 1958221-1958233, 1959668-1959722
80IGF2110.440225035161743987112154217-2154267, 2154273-2154283, 2154301-2154368, 2154374-2154413, 2154752-2154851, 2154863-2154869, 2154876-2154895, 2156611-2156614, 2156648-2156656, 2156680, 2156729-2156744, 2156749-2156756, 2161400-2161424, 2161439, 2161457, 2161460-2161464, 2161468-2161478, 2161489, 2161508-2161526
81TH110.12126984126984138415752185463-2185622, 2186462-2186466, 2186472-2186521, 2186530-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188708, 2189096-2189128, 2189137, 2189143-2189163, 2189321, 2189333-2189383, 2189409, 2189721-2189810, 2189815-2189817, 2189825-2189853, 2189862-2189863, 2189886-2189891, 2190892-2190932, 2190939-2191079, 2191082, 2191920-2192000, 2192927-2192977, 2193003
82KCNQ1110.7804037419990244620312466329-2466714, 2592555-2592566, 2593276-2593283, 2593304-2593338, 2608883, 2608890-2608893
83CDKN1C110.0609884332281818939512905234-2905290, 2905325-2905334, 2905341-2905364, 2905900-2906676, 2906695-2906719
84HBD110.9842342342342374445255652-5255658
85SMPD1110.99683544303797618966411931-6411936
86ABCC8110.9972608512431513474617498300-17498312
87USH1C110.998518518518524270017565851-17565854
88ANO5110.996353026987610274222277009-22277010, 22277038-22277045
89WT1110.9974259974264155432456619-32456622
90ALX4110.997572815533983123644286491-44286493
91SLC35C1110.991477272727279105645827418-45827421, 45827426, 45827627-45827628, 45827630, 45827762
92PEX16110.9173871277617786104145935384, 45935906-45935907, 45935915-45935917, 45935920, 45935930, 45935934, 45935956-45936000, 45939030, 45939257-45939286, 45939317
93F2110.9882289994649522186946742073, 46742076-46742082, 46744820, 46747496-46747498, 46747550, 46747628-46747630, 46747672-46747676, 46748155
94MYBPC3110.9882352941176545382547354181, 47356754, 47367896-47367899, 47371462-47371473, 47371584-47371599, 47372864, 47372869, 47372884, 47372896-47372901, 47372941, 47372952
95SLC39A13110.9838709677419418111647433921, 47435981-47435987, 47436427-47436436
96RAPSN110.86763518966909164123947459583, 47460289-47460302, 47460306, 47460315-47460316, 47460321, 47460342-47460360, 47460400, 47460442-47460451, 47463204-47463217, 47463412-47463450, 47464277-47464280, 47464310, 47469435-47469442, 47469445, 47470350-47470354, 47470401-47470409, 47470445-47470476, 47470510-47470511
97NDUFS3110.99748427672956279547600648-47600649
98BEST1110.9874857792946522175861723261-61723282
99SLC22A12110.70216606498195495166264359029, 64359041, 64359121, 64359283-64359314, 64359358-64359367, 64360271-64360294, 64360328, 64360885-64360887, 64360910, 64360930-64360940, 64360965-64360970, 64361000-64361010, 64361107-64361132, 64361174-64361218, 64361224, 64361272, 64361275, 64365999, 64366295-64366299, 64366303-64366339, 64366350, 64366353, 64366367-64366370, 64367148-64367346, 64367857-64367885, 64367921, 64368207-64368234, 64368244, 64368332-64368343
100PYGM110.962831158560794252964521039-64521042, 64521082-64521085, 64521386-64521393, 64521757-64521759, 64526075-64526086, 64527128-64527167, 64527213-64527235
101MEN1110.9908008658008717184864572594, 64572597-64572602, 64575026-64575034, 64577580
102RNASEH2C110.9979797979798149565488106
103SPTBN2110.99930294158655717366475224-66475228
104PC110.975685609273486353766617578, 66617716, 66617748-66617754, 66618295, 66618381-66618384, 66618538, 66618670-66618673, 66620033-66620070, 66620110-66620121, 66638894-66638907, 66639158-66639160
105CABP4110.98913043478261982867222902, 67223078, 67223887-67223892, 67223899
106AIP110.6424974823766435599367256741-67256742, 67256781, 67256803-67256854, 67256879-67256885, 67256914-67256922, 67257521-67257549, 67257563-67257596, 67257608-67257609, 67257622-67257655, 67257679-67257685, 67257809-67257885, 67257911, 67257915-67257922, 67258259-67258268, 67258285-67258308, 67258343-67258364, 67258374-67258379, 67258405, 67258419-67258447
107NDUFS8110.7472353870458116063367799637-67799676, 67799775-67799803, 67800468, 67800471, 67800477, 67800653-67800654, 67800660, 67800667-67800690, 67803743-67803755, 67803832-67803846, 67803929-67803942, 67803962-67803980
108TCIRG1110.60569594865624983249367808743-67808751, 67808789-67808796, 67808825-67808832, 67808849-67808855, 67810110-67810156, 67810191-67810223, 67810238-67810308, 67810413, 67810417-67810419, 67810442-67810471, 67810474, 67810488-67810498, 67810860, 67810893-67810930, 67811038-67811041, 67811047-67811054, 67811059-67811079, 67811084-67811092, 67811096-67811099, 67811304-67811362, 67811599-67811614, 67811648-67811663, 67811696-67811726, 67811729-67811733, 67811769-67811788, 67811804-67811811, 67812491, 67812530-67812550, 67814979, 67815240-67815258, 67815349-67815378, 67815385-67815408, 67816349-67816373, 67816391, 67816423-67816464, 67816548-67816596, 67816615-67816628, 67816666, 67816722-67816742, 67817130-67817150, 67817161-67817162, 67817167, 67817170-67817172, 67817177-67817182, 67817185-67817188, 67817207-67817215, 67817218-67817243, 67817246, 67817451-67817530, 67817604-67817610, 67817613-67817640, 67817657-67817666, 67817689-67817721, 67818031-67818058, 67818100, 67818106, 67818266, 67818280-67818282
109LRP5110.94183168316832282484868080183-68080273, 68131407-68131411, 68171022-68171028, 68171037-68171043, 68174091-68174094, 68181436, 68181439, 68201212-68201231, 68201250, 68201255, 68204362, 68204371, 68204415, 68204429, 68205950-68205952, 68205959, 68206044-68206045, 68206050, 68206057, 68207331, 68207340, 68207349-68207360, 68207377-68207384, 68213958-68213983, 68216293-68216323, 68216357, 68216395, 68216403, 68216449-68216453, 68216458, 68216495-68216538
110IGHMBP2110.9939637826961818298268671476-68671481, 68704261-68704272
111DHCR7110.999299719887961142871146577
112MYO7A110.737214199759331747664876853863, 76858902-76858917, 76867719-76867721, 76868015-76868024, 76869323-76869324, 76872062, 76873344-76873366, 76873954, 76883794-76883914, 76883925-76883931, 76885802-76885960, 76886418-76886483, 76886500-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892450, 76892466-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894122, 76894132-76894137, 76894148-76894179, 76895633-76895660, 76895695-76895760, 76900389-76900390, 76900402, 76900409-76900422, 76900448-76900449, 76900457, 76901065-76901074, 76901080-76901085, 76901137, 76901156-76901170, 76901742-76901748, 76901809-76901815, 76903254-76903287, 76910766
113ALG8110.998102466793173158177820488-77820490
114FZD4110.9553903345724972161486665844-86665853, 86666008-86666015, 86666074-86666127
115ACAT1110.9984423676012521284108002634, 108014717
116ATM110.9998909606367919171108203588
117DRD2110.99699699699741332113281449-113281452
118APOA1110.9788557213930317804116706760-116706761, 116706787-116706789, 116706795-116706806
119SCN4B110.9737991266375518687118015853-118015860, 118023355-118023364
120KCNJ1110.9991496598639511176128709569
121WNK1120.999233716475111305978095
122WNK1120.9998601202965417149863271
123CACNA2D4120.99853544229643534141904851, 2027531-2027534
124CACNA1C120.993293705227864465612621982, 2676735-2676743, 2676800-2676812, 2676850-2676851, 2676892-2676907, 2690758-2690760
125KCNA1120.99798387096774314885021021-5021023
126VWF120.998104714522621684426058300, 6058965, 6131926-6131932, 6132027-6132033
127TPI1120.98133333333333147506976731-6976742, 6976844-6976845
128ATN1120.99860061572908535737045906, 7045912-7045915
129PEX5120.99894514767932218967351643-7351644
130ABCC9120.999569892473122465022068655, 22068663
131KRAS120.99649122807018257025380187, 25380200
132PKP2120.992044550517120251433049443-33049458, 33049499, 33049514, 33049525, 33049536
133COL2A1120.996191756272417446448374728-48374743, 48379566
134MLL2120.992716985674731211661449425112, 49426730-49426732, 49426780, 49426847-49426854, 49426957-49426959, 49427221-49427223, 49427247-49427290, 49427315-49427321, 49427652, 49431272, 49431281, 49431286-49431308, 49431533, 49431536-49431555, 49433323-49433325, 49434074
135TUBA1A120.942982456140352645649522213, 49522266-49522290
136AQP2120.98284313725491481650344621-50344623, 50344626, 50344720, 50349266-50349272, 50349276, 50349280
137KRT81120.93214756258235103151852682999-52683005, 52684021-52684064, 52684950-52684956, 52685177-52685221
138KRT86120.9685147159479846146152695997, 52696890-52696933, 52697952
139KRT6B120.9457227138643192169552843632-52843637, 52845397-52845438, 52845571-52845606, 52845798-52845804, 52845844
140KRT6C120.9610619469026566169552865295-52865300, 52867024-52867030, 52867091-52867129, 52867230-52867236, 52867457-52867463
141KRT6A120.99528023598828169552884735, 52886908-52886914
142GNS120.9795057263411734165965141676, 65152963, 65152967, 65152975-65152991, 65152994, 65153001-65153013
143LEMD3120.999269005847952273665563609, 65563622
144CEP290120.9959677419354830744088519059-88519088
145TMPO120.998081534772184208598927728, 98927771-98927773
146GNPTAB120.9992044550517133771102224436-102224438
147UNG120.9840764331210215942109535564-109535571, 109535576, 109535616, 109536439-109536443
148MMAB120.9362549800796848753110011229-110011276
149TRPV4120.98700305810398342616110221426-110221434, 110221442, 110230587-110230600, 110246170-110246179
150ATXN2120.870624048706245103942112036588-112036624, 112036648, 112036651, 112036661-112036775, 112036780-112036782, 112036791-112036812, 112036822, 112036827, 112036830-112036831, 112036851-112036855, 112036859-112036862, 112036876-112037096, 112037119-112037139, 112037196-112037230, 112037256-112037286, 112037299, 112037302, 112037311-112037318
151SDS120.997973657548132987113836585, 113836588
152ACADS120.9935431799838681239121174871, 121176958-121176964
153HPD120.94077834179357701182122284969, 122285004-122285007, 122285078-122285080, 122286935-122286956, 122286981-122286982, 122287635-122287651, 122287671-122287689, 122292695-122292696
154PUS1120.96105919003115501284132414278-132414283, 132414471-132414475, 132414481, 132414601-132414604, 132414609, 132414614-132414627, 132425995-132426005, 132426087-132426090, 132426419-132426421, 132426425
155B3GALTL130.9919839679358712149731774255-31774266
156BRCA2130.99844008969484161025732903626, 32903629, 32907381-32907382, 32907415-32907417, 32911438, 32912317-32912321, 32953633-32953635
157FREM2130.9914826498422781951039261564-39261603, 39261663-39261679, 39261880-39261887, 39261931-39261935, 39261942-39261951, 39261954
158SUCLA2130.99928160919541139248528294
159ATP7B130.999090495679854439852523871-52523873, 52585458
160ZIC2130.854283927454662331599100634390-100634414, 100634469-100634473, 100634537-100634543, 100634580-100634615, 100634817-100634823, 100635008-100635010, 100635177, 100637351-100637363, 100637593-100637619, 100637646, 100637701-100637708, 100637715-100637747, 100637787-100637852, 100637931
161COL4A1130.9996007984031925010110959348, 110959356
162F7130.411235955056187861335113760156-113760219, 113765004-113765057, 113765063-113765101, 113765111-113765115, 113765128-113765136, 113768078-113768079, 113768170-113768171, 113768196, 113768242-113768243, 113768247-113768249, 113768260-113768268, 113769974-113770059, 113770070, 113770080-113770106, 113771105-113771127, 113771156-113771189, 113771834-113771856, 113771864-113771871, 113772746-113772755, 113772778-113772863, 113772882-113772982, 113773001-113773056, 113773103-113773109, 113773142-113773159, 113773170-113773208, 113773215-113773281, 113773289, 113773309, 113773312-113773319
163F10130.94955691888207741467113777172-113777174, 113777178-113777188, 113777190, 113777234-113777239, 113798226-113798230, 113798372-113798376, 113798379, 113803232-113803234, 113803381-113803387, 113803538-113803542, 113803573-113803577, 113803582-113803583, 113803686, 113803691-113803709
164GRK1130.9946808510638391692114322047-114322049, 114322177, 114426090-114426093, 114426129
165SLC7A7140.98632812521153623282182-23282187, 23282227-23282240, 23282587
166PABPN1140.99022801302932992123790949-23790957
167NRL140.963585434173672671424550552-24550561, 24550595, 24550599-24550601, 24550606-24550607, 24550622, 24550636-24550642, 24551780, 24552025
168TGM1140.998777506112473245424724384, 24724388-24724389
169FOXG1140.8294147029236624-29236629, 29236638, 29236674-29236960
170NKX2-1140.9800995024875624120636986577, 36986587-36986588, 36986601, 36986742-36986744, 36988365, 36988368, 36988374-36988388
171MGAT2140.9806547619047626134450088126-50088151
172C14orf104140.9466984884646134251450100682-50100716, 50100742-50100748, 50100807-50100850, 50100971-50100983, 50101102-50101110, 50101560-50101585
173PYGL140.998820754716983254451398417-51398419
174GCH1140.896414342629487875355369100-55369109, 55369211-55369235, 55369248-55369262, 55369282-55369295, 55369361-55369374
175VSX2140.9852670349907916108674706419-74706426, 74706461-74706463, 74706470-74706474
176EIF2B2140.9801136363636421105675469746, 75471584-75471603
177POMT2140.9720372836218463225377786863, 77786865, 77786934-77786945, 77786971-77787019
178GALC140.999028182701652205888459400-88459401
179ATXN3140.991712707182329108692537339-92537342, 92537351-92537354, 92559660
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183UBE3A150.9920091324200921262825602008-25602010, 25616251-25616257, 25616620-25616626, 25616720-25616723
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203HBA2160.9510489510489521429222912-222930, 222985, 223003
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211MEFV160.981670929241264323463304509-3304527, 3304635-3304638, 3304698, 3306345-3306363
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215ALG1160.934050179211479213955128851-5128879, 5129065-5129073, 5130959-5130999, 5131046-5131057, 5133687
216ABAT160.971390552228884315038860120, 8870305-8870311, 8873395-8873429
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221TUFM160.9868421052631618136828857411-28857420, 28857426, 28857566-28857571, 28857589
222ATP2A1160.9943446440452417300628895896-28895905, 28898861, 28900261-28900264, 28915512-28915513
223PHKG2160.993447993447998122130760151, 30760156, 30760189, 30760232-30760236
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226SLC5A2160.9787023278850943201931500001-31500005, 31500008, 31500012, 31500061-31500089, 31500471-31500477
227PHKB160.998476538695925328247733224-47733228
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230SLC12A3160.9925638538635623309356921856-56921864, 56921930-56921943
231TK2160.99891774891775192466584014
232HSD11B2160.8111658456486230121867465152-67465354, 67465381-67465404, 67465414-67465416
233LCAT160.9803476946334126132367973969, 67973972, 67974024-67974032, 67976772-67976779, 67976984, 67976988-67976991, 67977004, 67977993
234CDH3160.99959839357431249068725783
235CDH1160.9950924877312213264968771337-68771346, 68771352-68771354
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237AARS160.998968008255933290770298898, 70301627, 70301631
238HP160.9541359541359556122172090452, 72092166-72092209, 72092231-72092237, 72093017, 72093029-72093030, 72093033
239GCSH160.829501915708818952281129759-81129783, 81129809-81129872
240GAN160.9782608695652239179481348752-81348790
241MLYCD160.85155195681511220148283932771-83932777, 83932818-83932828, 83932834-83932840, 83932849-83932915, 83932987-83933052, 83933085-83933131, 83933141-83933153, 83933213-83933214
242FOXF1160.9701754385964934114086544211-86544213, 86544828-86544836, 86544847-86544852, 86544857-86544859, 86544916-86544928
243FOXC2160.73638778220452397150686601055-86601108, 86601385-86601391, 86601405-86601445, 86601549-86601552, 86601641-86601706, 86601712-86601734, 86601759-86601760, 86601779-86601820, 86601831-86601837, 86601864-86601869, 86601885, 86601897-86601916, 86601962-86602005, 86602074-86602081, 86602089-86602092, 86602145-86602149, 86602163, 86602190-86602201, 86602206-86602211, 86602214, 86602219-86602220, 86602227, 86602260-86602299
244JPH3160.70315976858033667224787636857, 87636878-87636883, 87636893-87636921, 87636948-87636950, 87636952-87636965, 87637106-87637134, 87678319, 87678581-87678586, 87678597, 87717769-87717777, 87717827-87717843, 87717856-87717872, 87723277-87723290, 87723302-87723385, 87723391-87723473, 87723479-87723580, 87723593-87723598, 87723601-87723604, 87723609, 87723612, 87723652-87723700, 87723708-87723764, 87723784-87723790, 87723824-87723829, 87723860-87723905, 87723911-87723915, 87723956-87723960, 87723965, 87723967-87723968, 87723976-87723998, 87724003-87724005, 87724008-87724035, 87724105-87724111
245CYBA160.1938775510204147458888709761-88709979, 88712535-88712598, 88713163-88713165, 88713175-88713206, 88713233-88713246, 88713509-88713547, 88713553-88713583, 88714464-88714466, 88714497-88714522, 88717364-88717403, 88717409-88717411
246APRT160.2246777163904242154388876106-88876132, 88876141-88876166, 88876188-88876233, 88876248, 88876478-88876489, 88876495-88876556, 88876845-88876876, 88876913, 88876916, 88876920-88876945, 88877958-88878064, 88878228-88878307
247GALNS160.62778840025494584156988880847-88880862, 88884415-88884426, 88884440-88884532, 88888997-88889037, 88889054-88889085, 88889091-88889108, 88891175-88891215, 88891225-88891277, 88893160, 88893177-88893215, 88898468, 88901663, 88902182-88902211, 88907421-88907429, 88907433-88907455, 88907466, 88907497-88907499, 88908305-88908333, 88908367, 88908378-88908379, 88909114-88909118, 88909133-88909142, 88909184-88909191, 88923166-88923251, 88923257-88923285
248SPG7160.9673366834170978238889574833-89574836, 89614443, 89614509, 89616985-89616991, 89623437-89623501
249FANCA160.97596153846154105436889805010-89805016, 89805046-89805049, 89836981-89836987, 89839751-89839761, 89842164, 89882945-89883019
250TUBB3160.9563932002956459135389989841, 89989853-89989857, 89989864-89989866, 89998984-89999007, 90001428-90001430, 90001440, 90001663, 90001716, 90001731-90001739, 90001803, 90002184-90002193
251PRPF8170.99942922374429470081557216-1557219
252CTNS170.8802992518703214412033552150, 3559799-3559856, 3559995-3560040, 3560080-3560089, 3561299-3561310, 3561374, 3563257, 3563263-3563265, 3563941-3563944, 3563963, 3564001-3564007
253CHRNE170.8495276653171422314824802182, 4802186, 4802305-4802323, 4802356, 4802360-4802361, 4802376-4802402, 4802512, 4802522, 4802525, 4802531, 4802534, 4802564-4802588, 4802595-4802607, 4802628-4802632, 4802642-4802647, 4802655-4802679, 4802763-4802785, 4802802-4802806, 4802814-4802818, 4802822, 4804113-4804122, 4804345-4804346, 4804421-4804439, 4804445-4804449, 4804459-4804478, 4804484-4804485, 4805285
254PITPNM3170.9476923076923115329256358691, 6358702-6358800, 6358827-6358844, 6358849-6358852, 6358871, 6358921-6358922, 6377810-6377814, 6382024, 6459705-6459726
255ACADVL170.989837398373982019687123308, 7123311-7123312, 7123341, 7123347-7123352, 7123355, 7123466-7123474
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335JAK3190.96740740740741110337517940917-17940935, 17940952-17940966, 17941000-17941006, 17941012, 17941020-17941027, 17953245-17953258, 17953262, 17953269-17953280, 17953894-17953908, 17953914-17953920, 17954677-17954687
336SLC5A5190.9518633540372793193217983129-17983131, 17983134-17983140, 17983244-17983263, 17983297-17983302, 17984951-17984992, 17985303-17985314, 17992795, 17994526, 17999185
337IL12RB1190.94318753142283113198918186632, 18186642-18186647, 18187107-18187114, 18191762-18191810, 18197573-18197621
338COMP190.89973614775726228227418896527-18896532, 18896537, 18896581-18896587, 18896845-18896847, 18898377, 18899034-18899037, 18899063-18899075, 18899277-18899285, 18899413-18899443, 18899502, 18899511-18899534, 18900010-18900020, 18900055-18900075, 18900799, 18900802-18900806, 18900854-18900866, 18900918, 18901659-18901714, 18901729-18901744, 18902064-18902067
339CEBPA190.50974930362117528107733792392-33792394, 33792426, 33792511-33792533, 33792574-33792616, 33792673-33792692, 33792753-33792769, 33792788-33792816, 33792821, 33792840-33793064, 33793136-33793256, 33793276-33793320
340SCN1B190.950433705080554080735521725-35521764
341MAG190.91281233386497164188135786561-35786585, 35790457-35790502, 35790530-35790533, 35790607-35790656, 35790699-35790709, 35791050-35791052, 35791151-35791158, 35791205-35791213, 35793500-35793507
342PRODH2190.999379267535691161136303323
343TYROBP190.5575221238938115033936398121-36398136, 36398348-36398396, 36398429-36398472, 36398632-36398664, 36399076-36399082, 36399112
344SDHAF1190.916666666666672934836486184-36486186, 36486198-36486201, 36486298, 36486302-36486306, 36486313, 36486316-36486324, 36486346, 36486357, 36486407-36486410
345WDR62190.9978127734033210457236595730-36595738, 36595905
346RYR1190.957663557584186401511738931386, 38931392, 38931422, 38976650-38976671, 38976749-38976753, 38980000, 38980061-38980062, 38980863-38980876, 38984998-38985000, 38985097-38985099, 38985161-38985169, 38986855-38986865, 38986915-38986921, 38987056-38987125, 38987158-38987172, 38987500-38987505, 38987516-38987517, 38987521-38987546, 38987567-38987588, 38989771, 38990344, 38990387-38990419, 38991531, 38991543, 38993547, 39037100, 39055681-39055690, 39055741-39055808, 39055834-39055877, 39055902-39055996, 39056012-39056048, 39056068, 39056163-39056164, 39056177-39056180, 39056204-39056242, 39056277, 39056285-39056290, 39056319-39056327, 39056386-39056389, 39075596-39075598, 39075604, 39075662-39075679, 39075691-39075724, 39076626-39076629
347ACTN4190.85672514619883392273639138430-39138434, 39138497-39138512, 39207930, 39207942-39207943, 39214333-39214362, 39214613-39214615, 39214628-39214633, 39214685-39214704, 39214797-39214808, 39214843-39214890, 39214959-39214961, 39214969, 39215071-39215089, 39215164-39215191, 39216371-39216378, 39216470-39216504, 39216520-39216521, 39219636-39219643, 39219704-39219711, 39219731-39219755, 39219920-39219959, 39219970-39220041
348DLL3190.9601507808292974185739993466-39993472, 39993533-39993543, 39993560, 39993566-39993577, 39993584, 39993599-39993607, 39993680, 39994746-39994758, 39997847-39997857, 39998027-39998034
349TGFB1190.9335038363171478117341837075-41837081, 41837085, 41848095-41848099, 41854217-41854258, 41854302-41854304, 41858892-41858908, 41858921, 41858934-41858935
350BCKDHA190.997010463378184133841930439-41930442
351ATP1A3190.9877650897226845367842470749, 42470798, 42470870-42470880, 42470954-42470961, 42470971, 42471050-42471057, 42471105-42471108, 42471324, 42471331-42471333, 42471359, 42471414, 42471436-42471438, 42480568, 42482424
352ETHE1190.941176470588244576544012096-44012105, 44012140-44012157, 44012198-44012202, 44031264-44031267, 44031271-44031278
353BCAM190.9735029146793950188745312405-45312407, 45312410-45312449, 45324062-45324068
354APOE190.99056603773585995445412059-45412060, 45412206-45412212
355BLOC1S3190.940886699507393660945682555, 45682576, 45682896-45682922, 45682935-45682939, 45682997-45682998
356ERCC2190.9802890932982945228345867092-45867097, 45867113, 45867148-45867154, 45867291-45867295, 45867581-45867589, 45867696-45867699, 45868154-45868156, 45868207-45868211, 45868309, 45873462-45873465
357SIX5190.77927927927928490222046268775-46268794, 46268837-46268838, 46268870-46268890, 46268944-46268945, 46268948-46268953, 46268976, 46268999, 46269002, 46269023, 46269113-46269127, 46269210-46269223, 46269230, 46269306, 46269313, 46269639-46269642, 46269711-46269718, 46269737, 46269740-46269755, 46269848, 46269877-46269915, 46269949, 46269952, 46270017-46270021, 46270073, 46270143-46270173, 46270198, 46270202, 46270264, 46270379-46270381, 46271358-46271364, 46271550-46271588, 46271594-46271618, 46271662-46271665, 46271716-46271718, 46271754, 46271790-46271796, 46271824-46271907, 46271920-46271972, 46272027-46272091, 46272100
358DMPK190.86666666666667252189046273840-46273841, 46274271-46274275, 46274278, 46274300-46274318, 46280705-46280715, 46280786, 46280834-46280848, 46281431-46281462, 46281757-46281759, 46281853-46281880, 46281890, 46281896, 46282588, 46282592-46282593, 46283039-46283048, 46283054, 46283084-46283087, 46285451-46285452, 46285480-46285488, 46285492, 46285495-46285497, 46285511-46285610
359FKRP190.78897849462366314148847258780-47258787, 47258868-47258876, 47259027, 47259041-47259056, 47259059-47259079, 47259101-47259110, 47259180, 47259221-47259225, 47259243-47259302, 47259314, 47259317-47259319, 47259377-47259391, 47259432-47259468, 47259480-47259488, 47259491, 47259511-47259537, 47259614-47259615, 47259618-47259625, 47259650-47259681, 47259687-47259708, 47260090, 47260093-47260102, 47260137-47260145, 47260176-47260181
360DBP190.7229038854805727197849134182-49134190, 49134306, 49136895, 49138837-49138864, 49138867, 49138874, 49138876-49138892, 49138914-49138956, 49138972-49138973, 49138982-49138985, 49139013-49139024, 49139047-49139054, 49139073-49139078, 49139081, 49139088-49139156, 49139163, 49139177-49139208, 49139211-49139215, 49139246, 49140182-49140210
361BCAT2190.9567430025445351117949299841-49299848, 49302985-49302991, 49303064-49303078, 49303337-49303340, 49303468-49303469, 49303495-49303500, 49303509, 49309783-49309786, 49309790, 49309861-49309863
362GYS1190.9801264679313544221449494658, 49494661, 49494664-49494678, 49496252-49496264, 49496305, 49496318-49496330
363MED25190.86675579322638299224450321610-50321615, 50321621-50321634, 50321671-50321706, 50321828-50321851, 50322429-50322440, 50322526, 50331788, 50333430, 50333774-50333786, 50333953-50333956, 50334014, 50334018, 50334073, 50334084, 50334677-50334678, 50335392-50335414, 50338414-50338428, 50338799, 50338804-50338823, 50338845-50338854, 50339043, 50339046, 50339147-50339157, 50339184-50339202, 50339490-50339492, 50339496, 50339499-50339503, 50339513, 50339520, 50339544-50339599, 50340126-50340127, 50340130-50340131, 50340134-50340136, 50340149-50340154
364MYH14190.9901816396661860611150764780-50764808, 50764823, 50764862-50764875, 50764891-50764892, 50770135-50770137, 50770215-50770225
365KCNC3190.81354441512753424227450823546, 50823563, 50826396-50826399, 50831656-50831671, 50831686-50831740, 50831748-50831790, 50831812-50831821, 50831939-50831954, 50831963-50831968, 50831979-50832027, 50832041-50832047, 50832085-50832128, 50832145, 50832152, 50832170-50832339
366NLRP12190.94852479598242164318654299177, 54299180-54299182, 54299255-54299281, 54301512-54301515, 54301614-54301621, 54301667, 54304517-54304540, 54304555-54304557, 54304563-54304571, 54304612-54304651, 54307233, 54307319-54307326, 54310903, 54312841-54312849, 54312864-54312865, 54313586-54313595, 54313669-54313681
367PRKCG190.93027698185291146209454385779, 54385904-54385918, 54392913, 54392922-54392929, 54392971, 54392987-54393002, 54393188, 54393192, 54393197, 54393205, 54393209, 54393226-54393247, 54401719-54401747, 54401759-54401765, 54401869-54401875, 54409571-54409572, 54409970, 54409988-54409991, 54410076-54410088, 54410136-54410149
368PRPF31190.76933333333333346150054621688, 54625239, 54625897-54625901, 54626910-54626911, 54627137-54627156, 54627159, 54627878-54627883, 54627915, 54627953-54627960, 54628008-54628019, 54628022-54628024, 54629904, 54629926-54629957, 54631448-54631462, 54631489-54631521, 54631680-54631692, 54631721-54631722, 54631730-54631734, 54631739-54631745, 54631749-54631752, 54632432-54632435, 54632453-54632454, 54632469-54632511, 54632524-54632554, 54632647-54632738, 54634795, 54634806
369NLRP7190.999678869621071311455451232
370TNNT1190.7275031685678121578955644283-55644293, 55644296, 55644306-55644319, 55644325, 55645255-55645295, 55645475-55645524, 55648499-55648502, 55649367, 55652251-55652291, 55652312-55652328, 55652596-55652599, 55652630-55652633, 55652664-55652670, 55653285, 55657802-55657810, 55658051-55658053, 55658056-55658058, 55658068, 55658376-55658377
371TNNI3190.911330049261085460955665488-55665500, 55665555-55665558, 55666109-55666112, 55666188-55666193, 55667668-55667694
372TPO20.9229122055674521628021481096-1481097, 1497580-1497618, 1497770-1497773, 1497780-1497782, 1499841, 1520655-1520754, 1544366-1544373, 1544409-1544412, 1544419, 1544439-1544445, 1544452-1544495, 1546200, 1546209, 1546246
373RPS720.95042735042735295853623256-3623270, 3623411-3623420, 3623465-3623468
374KLF1120.9792072774528932153910183844-10183848, 10183862-10183885, 10188535-10188537
375LPIN120.998503554059114267311911798-11911800, 11911803
376MYCN20.9648745519713349139516082305-16082313, 16082395-16082397, 16082452, 16082459-16082461, 16082603-16082619, 16082646-16082656, 16082831-16082835
377APOB20.9999269646508911369221266793
378OTOF20.805305305305311167599426695387-26695443, 26695449-26695453, 26696020-26696029, 26696061-26696077, 26696080, 26696113, 26696122-26696149, 26696275-26696281, 26696311-26696313, 26696337-26696342, 26696894-26696896, 26696901-26696929, 26696946-26696970, 26697381-26697500, 26697520-26697530, 26698293, 26698296-26698297, 26698782-26698785, 26698801, 26698814, 26698827-26698858, 26698879-26698901, 26698996-26699065, 26699077, 26699088, 26699103-26699185, 26699759-26699895, 26700040-26700041, 26700046-26700056, 26700066-26700085, 26700093, 26700103-26700156, 26700284-26700299, 26700329-26700356, 26700517-26700547, 26700565-26700573, 26700598-26700617, 26702132-26702175, 26702197-26702203, 26702344-26702380, 26702410-26702425, 26702468-26702501, 26703071-26703074, 26703676-26703725, 26703757-26703763, 26703797, 26703843-26703855, 26703859, 26703862-26703870, 26705298-26705322, 26705349-26705366, 26705401-26705402, 26705453-26705455, 26707342-26707366
379C2orf7120.94828032066201200386729287853, 29287863-29287895, 29287908-29287933, 29293541-29293564, 29293593-29293599, 29293641-29293651, 29293693, 29293767-29293768, 29293889, 29294125, 29294267-29294280, 29294449, 29294603-29294611, 29294664, 29295261-29295267, 29295323-29295328, 29295438, 29295441-29295445, 29295526-29295528, 29295586, 29295643-29295664, 29295857, 29295911, 29296311-29296329, 29296517, 29296886
380SPAST20.9783900594273440185132289007, 32289010, 32289020, 32289037-32289038, 32289194-32289220, 32289292-32289297, 32289301-32289302
381CYP1B120.93259803921569110163238301785-38301792, 38301977-38301982, 38302004-38302041, 38302168-38302178, 38302185, 38302236-38302262, 38302410-38302428
382SOS120.9967516241879113400239281756, 39281810, 39281922, 39285821-39285824, 39285828-39285832, 39285836
383ABCG820.87685459940653249202244099130-44099175, 44099263-44099266, 44099362-44099440, 44100943-44100954, 44100987-44100989, 44101033-44101040, 44101087-44101097, 44101122-44101125, 44101602-44101614, 44102317-44102331, 44102340-44102393
384EPCAM20.9957671957672494547596645-47596648
385MSH220.997147950089138280547630332, 47630432-47630438
386MSH620.9529757531227192408348010401-48010425, 48010453-48010494, 48010508-48010632
387DYSF20.9853773584905793636071801351, 71801438-71801440, 71801444-71801459, 71825709-71825715, 71825784-71825789, 71827911-71827912, 71839842-71839843, 71847677-71847683, 71847691-71847739
388SPR20.98854961832061978673114608-73114614, 73114775, 73114779
389ALMS120.99896033269354131250473613028-73613040
390MOGS20.93476531424025164251474688411-74688413, 74688863-74688872, 74688889-74688918, 74689004-74689008, 74689238-74689272, 74689549-74689551, 74689604-74689611, 74689846-74689854, 74689945-74689956, 74691654, 74691673, 74691679, 74692273-74692283, 74692316-74692327, 74692344-74692366
391HTRA220.9891067538126415137774757239-74757253
392REEP120.955445544554462760686564605-86564631
393EIF2AK320.9934347955834122335188926640, 88926730-88926750
394TMEM12720.956764295676433171796931074-96931104
395ZAP7020.9913978494623716186098340595-98340604, 98340750-98340755
396RANBP220.938708010335925939675109336126-109336134, 109345588-109345601, 109347853-109347894, 109351988-109351996, 109352184-109352192, 109357053, 109357072, 109357076, 109357110-109357116, 109363167-109363196, 109363251-109363254, 109365376, 109365426, 109367720-109367744, 109367751-109367796, 109367844, 109368049, 109368098-109368110, 109368363-109368387, 109368430-109368450, 109369594-109369615, 109369982-109370019, 109370291-109370312, 109370343-109370375, 109370398, 109371659, 109374889-109374921, 109374952, 109378557, 109382787-109382793, 109383054-109383055, 109383084-109383113, 109383226-109383232, 109383347-109383364, 109383538-109383561, 109383634-109383641, 109383822-109383828, 109384505-109384541, 109384628-109384667
397MERTK20.98733333333333383000112656314, 112656317-112656318, 112656328-112656361, 112656372
398PAX820.9948263118994871353113992992-113992998
399GLI220.950640621718132354761121555017-121555020, 121555025, 121728146-121728148, 121729638-121729639, 121745909-121745910, 121745995, 121745999-121746000, 121746005-121746006, 121746017, 121746098, 121746155-121746187, 121746223-121746243, 121746312-121746355, 121746370-121746383, 121746416-121746420, 121746447-121746462, 121746564-121746570, 121746592-121746597, 121746769-121746770, 121747056-121747057, 121747081-121747088, 121747339-121747373, 121747467-121747475, 121747669-121747676, 121747737, 121748036-121748040
400PROC20.96248196248196521386128180493-128180517, 128180698-128180718, 128180742-128180747
401CFC120.78869047619048142672131279058-131279080, 131279616-131279627, 131279681, 131280363-131280392, 131280406-131280409, 131280447-131280471, 131280781-131280782, 131280792-131280805, 131280822-131280851, 131285313
402SCN1A20.99399699849925365997166848187, 166848838-166848865, 166908292-166908298
403ITGA620.998168498168563276173292517-173292520, 173292697-173292698
404HOXD1320.9912790697674491032176957673-176957679, 176957821-176957822
405AGPS20.99140111279717171977178257518, 178257603-178257608, 178257731-178257740
406TTN20.9997007421594430100248179514898-179514904, 179514907-179514915, 179634488, 179634495-179634506, 179644023
407CERKL20.9987492182614121599182468692-182468693
408BMPR220.99133782483157273117203397425-203397434, 203420760-203420776
409CYP27A120.99185463659148131596219677733-219677741, 219678895-219678898
410WNT10A20.96012759170654501254219745725-219745770, 219757575-219757578
411DES20.9929228591649101413220283277, 220283651, 220283704-220283711
412OBSL120.960288174310312265691220416834-220416835, 220416864-220416875, 220417266, 220417275, 220417286-220417296, 220417352-220417379, 220417404-220417419, 220435349-220435356, 220435620-220435626, 220435661-220435697, 220435711-220435713, 220435721-220435754, 220435780-220435787, 220435863-220435894, 220435918-220435921, 220435924-220435942, 220435945, 220435951-220435952
413COL4A420.9998025276461315064227968768
414COL4A320.9996010373030125013228163486-228163487
415CHRND20.924066924066921181554233390926-233390962, 233391252-233391256, 233394658, 233394680-233394694, 233396262-233396305, 233396334-233396339, 233399900-233399909
416CHRNG20.99871299871321554233405318, 233409282
417COL6A320.9994755611495759534238244867-238244868, 238244875-238244877
418AGXT20.94147582697201691179241808283-241808284, 241808290, 241808311, 241808352, 241808361, 241808369-241808371, 241808409, 241808658-241808665, 241808743, 241810061, 241810788, 241814604, 241816954-241816999, 241817019
419D2HGDH20.895913154533841631566242689590-242689598, 242689601, 242689629-242689641, 242690725-242690728, 242695382-242695388, 242695402-242695413, 242695422, 242695427, 242707125-242707138, 242707201-242707258, 242707282-242707283, 242707304-242707323, 242707332-242707335, 242707368-242707384
420C20orf54200.97163120567376401410741758-741759, 741762-741769, 742345-742347, 744370-744374, 744527-744548
421AVP200.8020202020202984953063314-3063316, 3063325-3063328, 3063331, 3063338-3063357, 3063412-3063425, 3063445-3063448, 3063632-3063650, 3063696, 3063729-3063734, 3063764-3063789
422PANK2200.984821949795682617133870096, 3870105-3870112, 3870140-3870143, 3870231-3870243
423FERMT1200.99754178957719520346088198-6088202
424JAG1200.993710691823923365710653390-10653397, 10654164-10654178
425C20orf7200.9807321772639720103813782219-13782238
426THBD200.997106481481485172823029891-23029895
427SNTA1200.85836627140975215151832000103-32000105, 32000112, 32000219-32000232, 32000463-32000479, 32031160-32031184, 32031201-32031236, 32031255-32031263, 32031317-32031426
428GDF5200.998007968127493150634025100-34025102
429SAMHD1200.998936735778842188135545395-35545396
430HNF4A200.995087719298257142543052773-43052775, 43052781-43052784
431ADA200.997252747252753109243252895-43252897
432CTSA200.9906479625918514149744520238-44520246, 44520249-44520253
433SALL4200.997153700189759316250407096-50407100, 50407104, 50408346-50408348
434GNAS200.8509485094850911073857415186-57415200, 57415312-57415355, 57415573-57415594, 57415697-57415699, 57415781-57415806
435GNAS200.90141297366731307311457428430-57428431, 57428444-57428449, 57428501-57428508, 57428944-57428949, 57429073-57429094, 57429177, 57429234-57429268, 57429418, 57429446-57429458, 57429491-57429506, 57429515-57429540, 57429598-57429621, 57429645-57429654, 57429657, 57429677-57429683, 57429686, 57429699-57429704, 57429710-57429723, 57429754-57429767, 57429808-57429813, 57429864-57429897, 57429965-57429970, 57430060-57430067, 57430089-57430107, 57430368-57430388
436EDN3200.974895397489541871757875868-57875884, 57876503
437COL9A3200.60827250608272805205561448417-61448494, 61448919-61448987, 61449870-61449873, 61449900-61449905, 61450574-61450591, 61450594-61450614, 61450618-61450622, 61450627-61450631, 61450645, 61451285-61451334, 61452533-61452535, 61452544-61452549, 61452560-61452563, 61452859-61452882, 61453109-61453115, 61453144, 61453149, 61453153-61453162, 61453470, 61453472-61453516, 61453943-61453984, 61455797-61455840, 61455849-61455853, 61456320-61456373, 61457169-61457199, 61457204, 61457558-61457561, 61457570, 61457581-61457602, 61458119-61458120, 61458130-61458166, 61459296-61459297, 61459301-61459303, 61459319, 61460137-61460141, 61460275-61460289, 61460315-61460328, 61460815-61460823, 61460982-61460983, 61460999-61461019, 61461118-61461123, 61461157, 61461719-61461755, 61461869-61461930, 61463519-61463525, 61464372-61464374, 61464407, 61467539, 61467547, 61467589-61467595, 61467645, 61467662, 61467834, 61468583, 61471988
438CHRNA4200.27919320594481358188461978090-61978119, 61978130-61978140, 61978144, 61978164-61978166, 61978172-61978173, 61978208-61978215, 61981005, 61981011-61981085, 61981092-61981191, 61981201-61981215, 61981231, 61981235-61981280, 61981287-61981319, 61981327-61981420, 61981432-61981450, 61981466-61981485, 61981509-61981545, 61981554, 61981562-61981567, 61981590-61981763, 61981772-61981799, 61981847-61981851, 61981856, 61981861-61981905, 61981922, 61981935-61981936, 61981956-61982009, 61982039, 61982047-61982114, 61982123-61982124, 61982139, 61982155-61982179, 61982240, 61982261, 61982264, 61982288-61982303, 61982326-61982371, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
439KCNQ2200.523864070255821247261962037997-62038043, 62038050-62038058, 62038066-62038102, 62038112-62038153, 62038182-62038184, 62038214-62038250, 62038274-62038291, 62038311-62038451, 62038469-62038515, 62038535-62038538, 62038541, 62038548-62038599, 62038609-62038616, 62038650-62038682, 62038726-62038728, 62039766-62039771, 62039777-62039825, 62044818-62044867, 62044890-62044893, 62044897-62044900, 62044907, 62044911-62044912, 62045441-62045469, 62045542-62045546, 62046262-62046277, 62046282-62046283, 62046289, 62046328, 62046332-62046335, 62046377-62046400, 62046419, 62059732-62059738, 62059747-62059788, 62065188-62065189, 62065197, 62065203, 62069990-62070021, 62070060, 62070967, 62070997-62071042, 62071057-62071061, 62073759-62073770, 62073860, 62076024-62076026, 62076068-62076115, 62076150, 62076178-62076187, 62076618, 62076649-62076660, 62076663-62076665, 62076683-62076717, 62078142-62078146, 62078149, 62103521-62103816
440SOX18200.13506493506494999115562679519-62679525, 62679534-62679580, 62679626-62679669, 62679706-62679713, 62679718-62679719, 62679731-62679788, 62679806-62679926, 62679948-62679951, 62679966-62680315, 62680512-62680869
441IFNGR2210.9280078895463573101434775850-34775922
442RCAN1210.847167325428211675935987059-35987062, 35987069-35987082, 35987166-35987214, 35987223-35987229, 35987237-35987278
443CLDN14210.99722222222222272037833528, 37833986
444TMPRSS3210.99780219780223136543805546-43805548
445CBS210.9444444444444492165644474010, 44474033, 44474048, 44474055-44474071, 44478980, 44479336-44479370, 44484032-44484034, 44485329-44485335, 44485341, 44485348-44485349, 44485598-44485608, 44485618-44485620, 44485800-44485803, 44492158-44492162
446AIRE210.43162393162393931163845705891-45706010, 45706446-45706468, 45706482-45706513, 45706539-45706555, 45706588-45706591, 45706861-45706886, 45706941, 45706944-45706952, 45706957, 45706969, 45706983-45706985, 45707400-45707413, 45707441-45707474, 45708263-45708300, 45708314-45708341, 45709568, 45709604-45709610, 45709625-45709661, 45709871-45709898, 45709944, 45709947-45709951, 45710978-45710980, 45710995, 45711022-45711054, 45711075, 45712214-45712255, 45712270-45712284, 45712877-45712878, 45712883-45712884, 45712891-45712916, 45712926-45712959, 45712971-45713030, 45713033-45713035, 45713037-45713058, 45713672-45713681, 45713705-45713712, 45713725-45713726, 45713754, 45713769, 45713776-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717580, 45717602-45717610
447ITGB2210.9666666666666777231046308608-46308620, 46308680-46308684, 46308712, 46308768-46308770, 46309191-46309202, 46309381-46309385, 46309936-46309945, 46310033-46310034, 46311742-46311766, 46311897
448COL18A1210.524596391263062503526546875468-46875479, 46875522, 46875616-46875656, 46875686-46875701, 46875816-46875817, 46875844-46875849, 46875859, 46875885-46875888, 46875944-46875951, 46876053-46876077, 46876083, 46876092-46876093, 46876099-46876101, 46876105, 46876112, 46876212-46876215, 46876230-46876240, 46876244-46876248, 46876271-46876281, 46876301-46876332, 46876373, 46876406-46876482, 46876491-46876539, 46876559, 46876569, 46876578-46876590, 46876615-46876620, 46876641-46876665, 46876671-46876725, 46876743-46876771, 46876791-46876795, 46888156-46888157, 46888187-46888208, 46888228-46888263, 46888288, 46888306, 46888327-46888357, 46888510-46888552, 46888585, 46888601, 46888636, 46888645-46888671, 46888681, 46895390, 46895395, 46895405-46895409, 46895423, 46896359, 46896366, 46897364, 46899852-46899878, 46900031, 46900035-46900057, 46900405-46900414, 46900642, 46900652-46900654, 46900690-46900698, 46900720-46900761, 46906775-46906906, 46907361-46907370, 46907398-46907423, 46908344-46908346, 46908349-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912610-46912627, 46913077-46913139, 46913429-46913489, 46914459-46914461, 46914468-46914485, 46914776-46914829, 46915272-46915310, 46915342-46915346, 46916414-46916482, 46916964-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924355, 46924368-46924470, 46925048-46925116, 46925133-46925192, 46925272-46925344, 46925752-46925832, 46925870-46925880, 46927475-46927503, 46929290-46929338, 46929376-46929418, 46929450-46929459, 46929466-46929471, 46929482-46929505, 46929508, 46929511, 46929514-46929515, 46930007-46930067, 46930087-46930119, 46930143, 46930153-46930162, 46931025-46931059, 46931071, 46932149, 46932153, 46932161-46932195, 46932202-46932232, 46932241-46932242, 46932277-46932312
449COL6A1210.645934564301911093308747401765-47401861, 47402548-47402677, 47404183-47404325, 47404336-47404383, 47406440-47406456, 47406474-47406491, 47406503-47406598, 47406858-47406944, 47406967-47406986, 47407069-47407082, 47407413-47407433, 47407524-47407568, 47408998-47409005, 47409043-47409051, 47409522-47409563, 47410172-47410198, 47410292-47410336, 47410700, 47410716-47410740, 47410913, 47410916, 47410931, 47410942-47410945, 47411924-47411928, 47411956-47411982, 47412095-47412113, 47414081-47414093, 47414134-47414137, 47414140-47414143, 47417614-47417639, 47417647-47417663, 47418035, 47418039, 47418064-47418085, 47418345-47418347, 47419571-47419596, 47420673-47420680, 47422532-47422535, 47423329, 47423494, 47423499, 47423507, 47423810-47423811, 47423894-47423900
450COL6A2210.292483660130722165306047531434-47531468, 47531474-47531505, 47531899, 47531920-47532028, 47532055-47532056, 47532069-47532098, 47532105-47532143, 47532165-47532205, 47532245-47532293, 47532305-47532353, 47532367-47532413, 47532468-47532490, 47533975, 47533978, 47533981-47533987, 47535786, 47535804, 47535807, 47535834-47535839, 47535939-47535942, 47536291-47536313, 47536585-47536591, 47536684-47536708, 47537314-47537367, 47537788-47537825, 47537840-47537850, 47538528-47538581, 47538944-47538985, 47539004-47539033, 47539702-47539764, 47540429-47540453, 47540460-47540491, 47540975-47540985, 47540995-47541037, 47541470-47541532, 47542022-47542062, 47542410-47542424, 47542432-47542445, 47542789-47542805, 47542826-47542851, 47544565-47544567, 47544599-47544601, 47544604-47544614, 47544810-47544825, 47545180-47545215, 47545379-47545385, 47545391-47545397, 47545417-47545468, 47545489-47545499, 47545526-47545531, 47545699-47545727, 47545730, 47545750-47545775, 47545785-47545815, 47545823, 47545826, 47545830-47545834, 47545844-47545848, 47545861, 47545874-47545882, 47545899-47545901, 47545905, 47545911-47545918, 47545926-47545937, 47545953-47546014, 47546024-47546055, 47546061-47546148, 47546419-47546455, 47551868-47552051, 47552057-47552302, 47552320-47552406, 47552415-47552420, 47552428-47552438, 47552453-47552466
451COL6A2210.1345029239766129634247552183-47552302, 47552320-47552406, 47552415-47552420, 47552428-47552438, 47552453-47552524
452FTCD210.0141451414514151603162647556901-47556965, 47556978-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570361, 47570373-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
453PCNT210.987114174408151291001147744143, 47744193-47744196, 47766818-47766841, 47786638-47786680, 47801745-47801755, 47805887, 47818149-47818150, 47831450-47831457, 47836719-47836726, 47848402-47848408, 47848444-47848445, 47848461, 47848471, 47850123-47850136, 47851592-47851593
454PRODH220.85246810870771266180318900745-18900786, 18900868, 18901004, 18904414, 18905975-18905981, 18908910-18908936, 18910643, 18923532-18923635, 18923640, 18923645, 18923652, 18923662, 18923677-18923691, 18923703, 18923717-18923753, 18923776-18923800
455GP1BB220.02415458937198160662119711093-19711102, 19711377-19711756, 19711762-19711807, 19711818-19711987
456TBX1220.72715053763441406148819748428-19748599, 19748608-19748627, 19748645-19748679, 19753425-19753426, 19753446, 19753449, 19753452-19753467, 19753507-19753514, 19753912-19753914, 19753922-19753934, 19753943-19753972, 19753993-19754030, 19754042, 19754048, 19754077-19754110, 19754213-19754223, 19754317, 19754323-19754324, 19754326, 19754338-19754352, 19754355
457SMARCB1220.9835924006908519115824175818-24175836
458CHEK2220.9596819988642871176129083903-29083912, 29083946-29083965, 29085165-29085196, 29091837-29091844, 29121353
459TIMP3220.99056603773585663633198009-33198014
460MYH9220.83188849226585989588336688062-36688074, 36688097-36688119, 36688216-36688218, 36689375-36689388, 36689427, 36689452, 36689805-36689821, 36689861-36689865, 36690138-36690139, 36690221-36690239, 36690978-36691043, 36691066-36691096, 36691104-36691118, 36691551-36691552, 36691557-36691559, 36691597-36691599, 36691684-36691692, 36691695-36691696, 36692895-36692896, 36692912-36692964, 36693017-36693052, 36694988-36694991, 36695032, 36695047, 36696186-36696192, 36696206-36696239, 36696259, 36696909-36696931, 36696973-36696986, 36697038-36697043, 36697068-36697099, 36697580-36697596, 36697650-36697693, 36697711, 36698690-36698716, 36700041-36700066, 36700086-36700116, 36700159-36700169, 36700179, 36701090-36701132, 36701138-36701148, 36701979-36702011, 36702015, 36702043-36702044, 36702047-36702074, 36702499-36702539, 36702591, 36702642-36702645, 36702653, 36705342-36705371, 36708121-36708135, 36708144, 36708148, 36708237-36708251, 36710191-36710200, 36710227-36710230, 36710267-36710299, 36712564, 36712571, 36712636-36712667, 36712686-36712714, 36716296-36716299, 36716395-36716401, 36716843-36716864, 36717850-36717861, 36718489, 36718531-36718535
461TRIOBP220.94590025359256384709838119879-38119905, 38120041, 38120176-38120178, 38120837-38120843, 38121785-38121829, 38121883-38121885, 38121899-38121905, 38121930-38121931, 38121973-38121977, 38122029-38122064, 38122110-38122126, 38122214-38122228, 38122448, 38122462, 38122470-38122472, 38122477-38122486, 38129332-38129334, 38129392-38129394, 38129413-38129419, 38130431, 38130434, 38130479-38130496, 38130501, 38130587-38130609, 38130723-38130729, 38130732, 38130773, 38130839-38130842, 38130881-38130913, 38130947, 38131104-38131117, 38131160-38131168, 38131239-38131251, 38131332-38131333, 38131337-38131338, 38131443-38131449, 38136910-38136918, 38136944-38136950, 38147779-38147795, 38154110, 38165156-38165171
462SOX10220.9878658101356217140138379440-38379456
463PLA2G622048948938508274-38508312, 38508511-38508584, 38509494-38509869
464PLA2G6220.438661710037171359242138508168-38508193, 38508203-38508312, 38508511-38508584, 38509494-38509661, 38511534-38511688, 38512082-38512122, 38512138-38512218, 38516766-38516848, 38516885-38516916, 38519102-38519265, 38522378-38522430, 38522444-38522445, 38522448-38522456, 38524276-38524383, 38524398-38524411, 38524433-38524435, 38525475, 38525481-38525499, 38525520-38525521, 38525524, 38525550-38525551, 38525560, 38528838-38528855, 38528870-38528912, 38528921-38528949, 38528969, 38528972-38528975, 38528994-38529020, 38531013-38531018, 38531028, 38531048-38531062, 38535990, 38536014-38536015, 38536062-38536109, 38536122-38536136
465ADSL220.994501718213068145540756440, 40757333-40757338, 40761058
466EP300220.999861973775021724541489078
467TNFRSF13C220.3747747747747734755542321395-42321399, 42321408-42321411, 42321426-42321434, 42322114-42322122, 42322133-42322137, 42322146-42322246, 42322252-42322329, 42322642-42322777
468CYB5R3220.945916114790294990643027429-43027456, 43045301-43045321
469ATXN10220.9880952380952417142846067954-46067970
470TRMU220.79067930489731265126646731679-46731686, 46731689, 46731696-46731700, 46731708-46731732, 46746263-46746313, 46746336, 46748204-46748207, 46749694, 46751343, 46751369-46751384, 46751389, 46751393, 46751420-46751421, 46751430-46751441, 46751459-46751469, 46751887-46751918, 46751931, 46751938, 46751941-46751957, 46752741-46752769, 46752795-46752836, 46752858, 46752862-46752863
471ALG12220.9740967961826938146750303699-50303706, 50303721, 50303732-50303736, 50304150-50304173
472MLC1220.9567901234567949113450502467-50502497, 50502593-50502595, 50506940-50506951, 50512742-50512744
473SCO2220.903870162297137780150962090, 50962098-50962111, 50962498-50962530, 50962610, 50962643-50962650, 50962653-50962656, 50962825-50962840
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619TUSC380.998089780324742104715397986-15397987
620NEFL80.998161764705883163224813430-24813432
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632VLDLR90.968726163234178226222622190-2622271
633KCNV290.9957264957265716382718969-2718975
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642TGFBR190.97354497354497401512101867524-101867563
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644LMX1B90.9955317247542451119129376818-129376821, 129376835
645ENG90.96611026808295671977130578021, 130578250-130578251, 130580620, 130587109, 130587149, 130587161-130587164, 130587551-130587564, 130588018-130588030, 130588073-130588089, 130616589-130616601
646DOLK90.94990723562152811617131708624, 131708627, 131709001-131709039, 131709233, 131709236-131709238, 131709280-131709284, 131709477-131709487, 131709516-131709535
647TOR1A90.9839839839839816999132586257-132586267, 132586327, 132586344-132586345, 132586360-132586361
648ASS190.9967715899919341239133333842, 133333969-133333970, 133352330
649POMT190.938016528925621352178134393855-134393869, 134394224-134394249, 134394299-134394339, 134394826-134394835, 134396758-134396759, 134396799, 134396804-134396806, 134396826-134396832, 134397442-134397443, 134397458-134397459, 134397526, 134397593, 134397599-134397611, 134398326, 134398329-134398337, 134398341
650SETX90.9992531740104668034135158747-135158751, 135173603
651TTF190.9996320824135412718135276885
652TSC190.99141630901288303495135772997, 135781263-135781291
653CEL90.770585645090275212271135937409-135937410, 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946541-135946542, 135946567-135946581, 135946596-135947053, 135947075-135947079
654SURF190.9091915836101982903136221797-136221812, 136223124-136223128, 136223151-136223154, 136223161-136223170, 136223283-136223329
655ADAMTS1390.5854341736694717764284136291450, 136293754-136293788, 136293800-136293802, 136293815-136293891, 136295059-136295101, 136295107-136295112, 136295115, 136295118, 136295135-136295221, 136297710-136297713, 136297720, 136297790, 136298532, 136298538-136298540, 136298543-136298554, 136298558, 136298605-136298613, 136298624, 136298639-136298644, 136298761, 136301949-136301966, 136301982, 136302007-136302034, 136302044-136302075, 136302873-136302895, 136302905-136302911, 136302916-136302917, 136302920-136302925, 136302936-136302939, 136303009, 136303368-136303375, 136303428, 136303432-136303435, 136303444-136303453, 136303460-136303486, 136304495-136304497, 136305472-136305520, 136305541-136305561, 136305597, 136305609-136305646, 136307520-136307543, 136307565-136307591, 136307607-136307608, 136307617-136307648, 136307735-136307833, 136307840-136307846, 136307852-136307864, 136308497-136308521, 136308530-136308531, 136308541-136308542, 136308545-136308579, 136308610-136308640, 136309997-136310043, 136310051, 136310054, 136310082-136310123, 136310147-136310173, 136310820-136310882, 136310888-136310889, 136310893, 136310906-136310907, 136310912, 136310915-136310940, 136313720-136313759, 136313769-136313786, 136313815, 136313832-136313849, 136314922-136314933, 136314945, 136315038-136315062, 136319545-136319610, 136319644, 136319647-136319650, 136319655-136319659, 136319672-136319706, 136319718-136319721, 136320414-136320422, 136320426, 136320474, 136320479, 136320483, 136320490-136320495, 136320498, 136320521, 136320524-136320549, 136320593-136320624, 136320638-136320656, 136320659-136320664, 136320674-136320698, 136321191-136321201, 136321231-136321251, 136321266-136321267, 136321278-136321288, 136321313, 136321318-136321328, 136321332-136321334, 136321708-136321774, 136321794-136321796, 136321800-136321814, 136323032-136323043, 136323084-136323092, 136323151-136323167, 136324144-136324218, 136324224-136324239, 136324250-136324302
656DBH90.793419633225463831854136501516-136501518, 136501553-136501577, 136501646, 136501721-136501722, 136501798-136501800, 136504974-136504982, 136505021, 136505024-136505035, 136505068, 136505111-136505114, 136508705, 136509384-136509390, 136513052-136513057, 136513064, 136513115, 136516756-136516814, 136516844-136516884, 136517368-136517370, 136517396-136517406, 136518078, 136521657-136521681, 136521703-136521749, 136522208-136522283, 136522305-136522308, 136522319-136522320, 136523507-136523543
657SARDH90.849111352919844162757136529081-136529092, 136531877-136531880, 136531883-136531895, 136531932-136531980, 136531988-136531992, 136535706-136535800, 136535808-136535874, 136536663-136536713, 136536740-136536799, 136536814-136536819, 136555524-136555527, 136555562, 136559380-136559389, 136559431, 136559459-136559460, 136559465, 136559476-136559485, 136578227-136578245, 136597693-136597698
658COL5A190.7975348921515311175517137534034-137534142, 137582759-137582764, 137582776, 137582803, 137582815-137582820, 137582837-137582861, 137582883-137582890, 137582894, 137582898-137582901, 137582905, 137582920-137582925, 137591762-137591773, 137591776, 137591807, 137591824-137591875, 137591887-137591894, 137591915, 137591919, 137591929-137591940, 137591955-137591968, 137593055-137593085, 137593100-137593113, 137593128-137593179, 137620616-137620622, 137630320-137630330, 137630340-137630350, 137630614-137630640, 137642397-137642398, 137642413, 137642430, 137642438-137642441, 137642456-137642462, 137642636-137642642, 137642691-137642692, 137642703-137642728, 137644435-137644457, 137645696-137645710, 137645744-137645747, 137646161-137646164, 137648611-137648628, 137648659-137648664, 137650122-137650128, 137653771-137653824, 137655539-137655583, 137658323, 137658326, 137658880, 137660264-137660265, 137660282, 137660287, 137660291-137660308, 137664636-137664656, 137666751-137666758, 137671979-137671992, 137674531-137674566, 137676849, 137676869-137676914, 137676930-137676942, 137677850, 137677858, 137681029-137681032, 137687118, 137688239, 137688243-137688244, 137688253, 137688262-137688263, 137693800-137693802, 137693832-137693840, 137694767-137694770, 137694775-137694777, 137694812-137694823, 137696839-137696851, 137696874, 137696901-137696910, 137697013, 137698110, 137701056-137701062, 137703338-137703340, 137703351, 137703363, 137703374, 137703378, 137703422, 137705829-137705843, 137705867, 137706667, 137706672, 137706678-137706685, 137706690, 137707781, 137707818-137707834, 137708895, 137709627-137709662, 137710502-137710508, 137710512-137710514, 137710541-137710567, 137710694-137710698, 137710741-137710747, 137710846-137710857, 137710880-137710881, 137710898, 137711962-137711980, 137712045-137712046, 137712060-137712066, 137716684-137716685, 137717721, 137726880-137726881, 137726918-137726933, 137726988-137726989, 137726992-137726995, 137726999-137727005, 137727047-137727050, 137734083-137734089
659LHX390.435897435897446821209139089171-139089176, 139089185-139089193, 139089196, 139089219-139089220, 139089228, 139089232, 139089244-139089282, 139089315-139089407, 139089436-139089484, 139089510-139089535, 139089544-139089570, 139090498, 139090547-139090629, 139090653, 139090755-139090847, 139090864-139090905, 139091566-139091623, 139091652-139091696, 139092522-139092531, 139092599, 139094792-139094885
660INPP5E90.3121447028423813311935139324805-139324820, 139325454-139325466, 139325486-139325490, 139325545-139325555, 139325562-139325569, 139326276-139326437, 139326931-139327038, 139327408-139327429, 139327457-139327480, 139327489-139327508, 139327519-139327527, 139327607-139327618, 139327666-139327731, 139328489-139328522, 139328532-139328546, 139328579-139328586, 139329192-139329315, 139333060-139333096, 139333119-139333207, 139333216-139333222, 139333235-139333287, 139333305-139333428, 139333458-139333543, 139333556-139333646, 139333661-139333681, 139333690-139333779, 139333782, 139333785, 139333790-139333848, 139333857-139333871
661NOTCH190.2801251956181555207668139390523-139390544, 139390576-139390593, 139390631-139390665, 139390682-139390685, 139390710-139390732, 139390774-139390802, 139390812-139390850, 139390859-139390890, 139390897-139390964, 139390970-139391052, 139391058-139391085, 139391108, 139391114-139391129, 139391139, 139391155, 139391182, 139391221-139391273, 139391284-139391303, 139391319-139391342, 139391352-139391382, 139391388-139391478, 139391506-139391558, 139391579-139391592, 139391602-139391647, 139391673-139391718, 139391758-139391787, 139391791, 139391797-139391799, 139391811-139391827, 139391856-139391869, 139391887-139391911, 139391940-139391965, 139391985-139392010, 139393415-139393448, 139393586-139393593, 139395010-139395069, 139395094-139395138, 139395199-139395216, 139395220-139395224, 139395237-139395286, 139396224-139396252, 139396258-139396279, 139396288-139396314, 139396321-139396323, 139396333-139396365, 139396453-139396469, 139396522-139396530, 139396761-139396797, 139396834-139396844, 139396849, 139396862-139396864, 139396872-139396888, 139396904-139396937, 139397634-139397635, 139397665-139397666, 139397703, 139397707-139397714, 139397746, 139397768-139397782, 139399125-139399128, 139399144-139399219, 139399242-139399283, 139399288, 139399293-139399302, 139399314-139399370, 139399395-139399443, 139399449-139399502, 139399508-139399556, 139399762-139399763, 139399777-139399876, 139399925-139399933, 139399945-139399953, 139399985-139400002, 139400011-139400037, 139400063-139400087, 139400132-139400214, 139400217-139400284, 139400317, 139400329-139400333, 139400979-139401034, 139401071-139401072, 139401079-139401090, 139401184-139401232, 139401247-139401294, 139401302-139401350, 139401377-139401425, 139401757-139401889, 139402435-139402457, 139402476, 139402494-139402497, 139402513, 139402518, 139402531, 139402547, 139402552-139402556, 139402684-139402719, 139402729-139402783, 139402793-139402837, 139403322-139403337, 139403351-139403498, 139403511-139403523, 139404185-139404190, 139404198-139404230, 139404236, 139404244, 139404255, 139404266-139404283, 139404343-139404368, 139404386-139404413, 139405106-139405149, 139405171-139405176, 139405201-139405218, 139405238-139405257, 139405604-139405610, 139405615-139405625, 139405649-139405723, 139407473-139407586, 139407844-139407913, 139407922-139407989, 139408962-139409044, 139409083-139409107, 139409114-139409154, 139409744-139409852, 139409935-139410018, 139410028-139410166, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412639, 139412649-139412744, 139413043-139413276, 139413895-139413945, 139413956, 139413965-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
662AGPAT290.39545997610514506837139568204-139568226, 139568239, 139568242-139568249, 139568264, 139568304-139568340, 139568346-139568362, 139569188-139569198, 139569209-139569237, 139571037-139571044, 139571071-139571072, 139571108-139571132, 139571428-139571470, 139571491, 139571504-139571528, 139571531-139571532, 139571556-139571588, 139571875-139571882, 139571906-139571916, 139571951-139571982, 139572002-139572008, 139581628-139581809
663SLC34A390.1283333333333315691800140126155-140126201, 140126212-140126213, 140126536-140126565, 140126594-140126613, 140127027-140127155, 140127236-140127318, 140127339-140127365, 140127375-140127379, 140127456-140127507, 140127522-140127523, 140127532-140127551, 140127558-140127561, 140127661-140127697, 140127714-140127732, 140127739-140127784, 140127795-140127833, 140127839-140127856, 140128086-140128174, 140128315-140128384, 140128392-140128393, 140128561-140128728, 140128868-140128899, 140128905-140128984, 140129059-140129087, 140129103-140129178, 140130416-140130582, 140130593-140130868
664EHMT190.80138568129337743897140513481-140513501, 140605439-140605478, 140611078-140611634, 140622909, 140622942-140622946, 140669678, 140671140, 140671275-140671276, 140671286, 140672359, 140672366, 140728830-140728867, 140728893, 140728976, 140729265-140729309, 140729317-140729362, 140729382-140729389, 140729402-140729405
665SHOXX0.48919226393629449879591633-591895, 595353-595396, 595417-595498, 595510-595558, 601740-601743, 605226-605232
666CSF2RAX0.6643678160919543813051404671-1404696, 1404701-1404707, 1404722-1404732, 1404743, 1404778, 1409232-1409234, 1409391, 1409396-1409399, 1413221-1413282, 1413304-1413354, 1419392-1419475, 1419486-1419519, 1422154-1422252, 1422816-1422836, 1422842-1422872, 1428302, 1428305
667SMSX0.976385104450526110121958950-21958975
668ARXX0.9881586737714620168925031649-25031665, 25031777-25031779
669DMDX0.9998191354675321105832472779-32472780
670RPGRX0.76553917317144811345938144961, 38145010-38145021, 38145174-38145176, 38145182-38145183, 38145192, 38145197, 38145233-38145252, 38145267-38145606, 38145614-38145853, 38145868-38145888, 38145908-38145934, 38145965-38145996, 38146088-38146104, 38146135-38146174, 38146199-38146205, 38146247-38146250, 38146288-38146293, 38146357-38146363, 38146480-38146481, 38147216-38147243
671TSPAN7X0.965333333333332675038420807-38420816, 38420819-38420824, 38420827, 38420872-38420880
672NYXX0.9336099585062296144641332794-41332805, 41332815, 41332818-41332819, 41332940-41332944, 41333101-41333107, 41333227, 41333231-41333234, 41333274-41333282, 41333329-41333330, 41333344, 41333352-41333354, 41333357-41333368, 41333415-41333417, 41333539-41333546, 41333549, 41333552-41333554, 41333953-41333974
673FGD1X0.99896049896053288654494253-54494255
674ARX0.9960188201230511276366765159-66765166, 66766357-66766359
675MED12X0.999540863177233653470361098-70361100
676TAF1X0.9889123548046563568270586180-70586242
677SLC16A2X0.995114006514669184273641389-73641396, 73641400
678BRWD3X0.9981512294324310540980064943-80064952
679PCDH19X0.9936479128856621330699663350-99663355, 99663560-99663570, 99663579-99663582
680TIMM8AX0.996598639455781294100603542
681NDUFA1X0.995305164319251213119010481
682SOX3X0.9940343027591381341139586480-139586487
683AFF2X0.9997459349593513936147582630
684FAM58AX0.9741496598639519735152864478-152864480, 152864483-152864498
685SLC6A8X0.936058700209641221908152954030-152954052, 152954073-152954144, 152954154-152954168, 152954228-152954239
686ABCD1X0.98748882931189282238152990888-152990892, 152990898-152990911, 152991086-152991089, 153002614-153002616, 153009173-153009174
687MECP2X0.97261189044756411497153363062-153363098, 153363105, 153363109-153363110, 153363122
688OPN1LWX0.9963470319634741095153409867-153409869, 153421916
689OPN1MWX0.9981735159817421095153458995, 153459003
690FLNAX0.99081067472306737944153581035-153581043, 153581676, 153585802-153585807, 153586586-153586587, 153587621, 153587624-153587625, 153588168, 153588595-153588598, 153588906-153588909, 153594518-153594523, 153599285-153599292, 153599351-153599357, 153599442-153599454, 153599555-153599563
691EMDX0.9777777777777817765153608067-153608083
692TAZX0.9797211660329516789153640213-153640227, 153641858
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5EDNRB-G57Shet unknown0.007Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5PMP22-T118Mhet unknown0.004Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G126Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2FANCG-R513Qhet unknown0.007Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.048 (benign), Testable gene in GeneTests with associated GeneReview
2RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2RNASEL-R462Qhomozygous0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
2SCNN1B-S82Chet unknown0.006Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.481 (possibly damaging), Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ELAC2-S217Lhomozygous0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
2ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ATP8B1-R952Qhomozygous0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.5TLR4-Q565Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-R61Hhomozygous0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SERPINA9-A42Vhomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MBLAC1-S43Chomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KDR-C482Rhet unknown0.021Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KDR-Q472Hhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHD-S68NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I172FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-S182ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E193KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E233QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-V238MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G263RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.021 (benign)
1RHD-K267MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1RHD-V306IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-Y311ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-G314VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-P323HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-N331IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-I342ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-M379Thomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RHD-E398VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Q2781Hhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-HR2748QHhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CMAH-V478Ahomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CMAH-R310Phomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CMAH-N272Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CMAH-R241Whomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CMAH-I181Thomozygous0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CMAH-G131Shomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SCN5A-H558Rhomozygous0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-I543Vhomozygous0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027336-P160LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-V73FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027336-W23*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-P102Shomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-RW70CLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-EF73VLhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-SK75RQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WHAMM-H736Phomozygous0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_024390-W43*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1NR_024390-A104PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TP53-P72Rhet unknown0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IL23R-Q3Hhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1HPS1-Q604Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-P491Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PINK1-A340Thet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-D107Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1FAM125A-D249Nhomozygous0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1FANCB-G335Ehomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-R207Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1LW-L153Mhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1OPN1LW-M236Vhomozygous0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SP100-V399ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SP100-M826Thomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1OPHN1-V39Ihomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1SSX1-F101Chomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ITIH5L-W1041Shomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
1CROCC-R1030Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-E1037Qhomozygous0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
1CROCC-R1049Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-M1134Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhet unknown0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CALHM2-A96Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC7A9-L223Mhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SLC7A9-V142Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGRN-E728Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5COL17A1-D1370Ghomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-A1551Shet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K829Nhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF254-D93Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF254-K537Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TSPAN32-M91Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AKAP8-R206Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP2A7-V479Ghomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R381Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-T347Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R311Chet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-H274Rhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-Q265Rhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-K239Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5CYP2A7-D169Ehet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-A131Shet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-L128Rhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-A117Vhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPAMD8-Q1890Rhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Qhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.814 (possibly damaging)
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-V2021Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-I391Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5UNC13A-A447Thomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADNP2-T86Ahet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.615 (possibly damaging)
0.5ADNP2-G986Ehet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5ITSN2-A1534Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ITSN2-R1337Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ITSN2-V291Ihet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIX5-V693Mhomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D5573Nhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MERTK-A264Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM177-I32Vhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM177-D267Ehomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM177-R285*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-Q31346Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E18585Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N4093Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPEG-R206Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBP3-R346Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CCDC7-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTRA2-A141Shet unknown0.017Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF331-C85Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5EPN1-H39Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPN1-G523Ahet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF530-T64Ahet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.827 (possibly damaging)
0.5ZNF530-H110Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-T169Mhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ZNF530-G174Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-L849Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B14-R130Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HSD17B14-N31Dhet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-S66Nhet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5PLCE1-S469Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PLCE1-R548Lhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5RTN4-D357Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RTN4-A71Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A5-H253Yhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5MOGS-P293Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOGS-D239Nhomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.5RGR-S245Fhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRD5A2-L88Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LIPA-T16Phomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SPAG5-R832Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TCEB3B-P598Shet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TCEB3B-G505Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5TCEB3B-A446Thet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5TCEB3B-A403Shomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-C254Fhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-R179Phomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCEB3B-T6Shet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5VTI1B-R176Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FARP1-H644Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5TEP1-I2486Mhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-P96Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP5-Q89Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRP5-R1036Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhomozygous0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whomozygous0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCDC81-H303Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5CCDC81-L558Rhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-G38GGhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7B-V1140Ahomozygous0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PFKM-R696Hhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIF21A-E1224Dhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ACSM4-Q357*het unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5A2ML1-D850Ehomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5MLL2-P813Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-E201*het unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USPL1-P384Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5USPL1-L531Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5USPL1-S950Nhet unknown0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BBS10-P539Lhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5UTP20-M120Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ONECUT1-P75Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5KIF23-T51Ihet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5SLC6A5-A89Ehet unknown0.024Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP3K14-S140Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAPT-Y441Hhomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CUBN-E3002Ghet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-L2153Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIGW-H235Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NELL1-R82Qhomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NELL1-R354Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC8-V1572Ihet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC2-P231Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OLFML1-E113Vhet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OLFML1-A259Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM59A-K291Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SBF2-E679Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INSC-R36Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.319 (possibly damaging)
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ARSG-T236Shomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARSG-T444Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PRR5L-A41Thet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CD6-P105Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-R225Whet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5CD6-A257Vhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-T539Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SNX29-E417Khet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5ABCC6-R1268Qhet unknown0.219Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UQCRC2-R183Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5KLHDC4-L155Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5KLHDC4-G130Vhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.482 (possibly damaging)
0.5KLHDC4-T102Ihomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHDC4-L56Vhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FANCA-S858Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HYDIN-E4159Qhet unknown0.500Unknown
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-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 unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-T2520Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous0.994Unknown
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-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-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 unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5CNGB1-V952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-L745Ihet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MADD-R766*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-S833Thet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-R928Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFKBIE-V194Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NFKBIE-P175Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NGF-A35Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-G448Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Dhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFI44L-I235Thet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IFI44L-M390Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.446 (possibly damaging)
0.5SYNE1-L8741Mhomozygous0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRIQ3-A558Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5LRRIQ3-E434Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5LRRIQ3-A255Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRIQ3-M129Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.819 (possibly damaging)
0.5NEGR1-Y347Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R1844Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FIG4-M364Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5FIG4-V654Ahomozygous0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-N473Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5RARS2-V235Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNXB-R3103Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FCRLB-G383Dhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.565 (possibly damaging)
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5LNPEP-P627Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LNPEP-I949Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARSB-S384Nhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.171 (benign), Testable gene in GeneTests
0.5ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5FMO4-L221Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.284 (possibly damaging)
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF192-G296Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-H-Q61Rhomozygous0.288Unknown
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
0.5CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDSN-M18Lhomozygous0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahet unknown0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D1640Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5MRPL50-L127Fhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS13A-V898Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5AQP7-G264Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5VPS13B-E2560Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FKTN-R203Qhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5BSPRY-Q293Hhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENG-T5Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5POMT1-D411Ehet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5STK3-S40Nhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5NR_002144-DDDFE68Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-SE75Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_002144-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHC2-V475Mhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PHC2-A145Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAMP3-W56Rhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MDH2-K301Rhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFHX4-P2424Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-Q73Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHX2-R52Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF212-V169Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF212-H293Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GIMAP2-V74Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5IL6R-D358Ahomozygous0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRELP-N348Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OR2T3-M204Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPA1-S158Nhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DLG1-P921Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5TUBB1-R307Hhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-A1463Shet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-P1515Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATXN7-V862Mhomozygous0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5URB2-V1400Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.042 (benign)
0.5URB2-R1408Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SUN2-R348Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHEK2-E493Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHEK2-Y488Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH9-I1626Vhomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH9-E1384Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF678-C351Yhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL18A1-V144Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-Y1992Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-S841Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5ANO10-R462Qhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO10-R263Hhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EFCAB6-A1059Vhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB6-R199Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RRP15-K149Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1109-R2222Whet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phet unknown0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANO7-D70Nhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTRR-S202Lhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEIL3-P443Lhomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-A547Shet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR2-R753Qhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-L801Fhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LIFR-H116Yhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CNGA1-D187Nhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ECHDC3-A69Thomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-D162Nhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NFXL1-R432Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NFXL1-P246Lhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5TET2-P363Lhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.917 (probably damaging)
0.5TET2-L1721Whet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WFS1-K193Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF518B-S523Nhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF518B-G262Ahet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF518B-Q253Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PRG4-R180Whomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOC-R76Khet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5CRNKL1-T158Ahet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRNKL1-Q111Hhet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-F51Lhet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-Q50*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CRNKL1-G35Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CWH43-K696Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5YTHDC1-H183Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NINL-R1276Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.375SYNE2-I574Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.375SYNE2-S853Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.375SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.375SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.375SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-S2802Ghet unknown0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.375SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.375SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LHCGR-N291Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A1-S932Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-D1435Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COG1-P967Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.375FLNB-R2374Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PCK1-V368Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.375DOCK8-E237Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDK11B-H112Rhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDK11B-C109Rhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDK11B-C109Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDK11B-R93Whomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNF207-A95Vhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-N573Shomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25TNFRSF1B-E232Khet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP9-Q221Rhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASP9-C12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25DYNC2H1-K1413Rhomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-R3105Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH2-A21Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADRB1-S49Ghet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A51Thet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T53Ehet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S54Khet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S112Chomozygous0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L131Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-T137Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-F153YSIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-M155Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25OR8U8-F200Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25OR8U8-M206Thet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25OR8U8-S209Chet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-L211Vhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-S223Fhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-G242Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-A267Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-T270Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25OR8U8-Q293Rhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR8U8-E296Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ANKRD35-Y302*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANKRD35-E661Qhomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25H19-G355Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-A1572Thet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LBR-S154Nhet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ZNF142-L956Hhomozygous0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF142-A686Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ADH1B-H48Rhet unknown0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPRG1-Y61Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TPRG1-S141Ihet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.487 (possibly damaging)
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-W511Rhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-S722Ghet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCF20-M405Vhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IQCB1-C434Yhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25IQCB1-I393Nhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.067 (benign), Testable gene in GeneTests
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-V121IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CREB3L2-Y318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CREB3L2-V130Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CREB3L2-T100DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB1-S400Nhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSC1-M322Thet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA0649-D104Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDR34-Q208Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WDR34-W60Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP11B2-K173Rhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEC-R2969Hhet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I338Thet unknown0.038Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DSP-R1738Qhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A2-S270Ahet unknown0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH11-A1241Thet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-G713Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ADAMTSL3-L869Fhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-Q356Rhet unknown0.046Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ITGB3-L59Phet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MARVELD3-D66Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MARVELD3-R91Qhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STRC-H1298Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.323 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TAOK3-I311Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAOK3-S47Nhet unknown0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-R1668Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC25A15-I254Lhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCRNA00282-W125*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NCRNA00282-A102Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PYGL-V222Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-GHGG490Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-H487Yhet unknown0.841Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TAF1B-A6Shet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25TAF1B-T281Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAF1B-V282Ihomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAF1B-T351Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.25TAF1B-E462Dhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TAF1B-T487Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.517 (possibly damaging)
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-M1Thet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFIH1-A946Thomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IFIH1-H843Rhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IFIH1-E627*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ALS2CR11-M1811Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALS2CR11-C1039Ghomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALS2CR11-H376Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPO-S220Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CASP8-M1Thet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCKR-V187Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25ZNF708-H354Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF708-R130Qhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25ZNF708-K122Thet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.25ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25BCAM-V382Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BCAM-T539Ahet unknown0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PRODH2-P91Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0TFR2-I359Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0EGR2-S207Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,753,464,661 bases (96.3% of callable positions, 89.4% of total positions)

Coding region coverage: 31,577,138 bases (94.9% of all genes, 95.8% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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